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Peng AJ, Fan SC, Chen YX, Huang JH, Cao Y, Zhou LX, Chen N. Atypical teratoid/rhabdoid tumor in adult: case series and an integrated survival analysis. Br J Neurosurg 2024; 38:425-432. [PMID: 33595416 DOI: 10.1080/02688697.2021.1885620] [Citation(s) in RCA: 6] [Impact Index Per Article: 6.0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/22/2019] [Revised: 02/29/2020] [Accepted: 02/01/2021] [Indexed: 02/08/2023]
Abstract
BACKGROUND Atypical teratoid/rhabdoid tumor (AT/RT) is well documented in children but less so in adults because of its rarity. METHOD We report a series of five cases, a literature review and quantitative analysis of the survival outcome of adult AT/RT patients. RESULTS Seventy-four patients including our five cases (male: female = 16: 58) were evaluated, whose median age was 32.5 years (18-80 years). The commonest location was the sellar region. Median overall survival (OS) was 12.5 months (0.5-204.00 months). Chemotherapy was associated with OS (HR: 0.349, 95%CI: 0.176-0.694, p = 0.003), while other factors did not influence OS. From Kaplan-Meier analysis, surgery combining postoperative chemotherapy and radiotherapy was associated with better prognosis (Log Rank: χ2 = 14.662, p = 0.001). CONCLUSIONS Adult AT/RT is commoner in females and tends to recur rapidly after surgical resection. Chemotherapy may provide a survival benefit. Surgery combined with postoperative chemotherapy and radiotherapy was associated with better prognosis for adult AT/RT patients, though the overall prognosis was still poor.
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Affiliation(s)
- Ai Jun Peng
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Shu Cai Fan
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Ya Xing Chen
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Jian Han Huang
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Yi Cao
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Liang Xue Zhou
- Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, China
| | - Ni Chen
- Department of Pathology, West China Hospital, Sichuan University, Chengdu, China
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2
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Corvino S, Del Basso De Caro M, Franca RA, Corazzelli G, Della Monica R, Chiariotti L, Maiuri F. Atypical Teratoid/Rhabdoid Tumor of the Nervous System in Adults: Location-Related Features and Outcome. World Neurosurg 2023; 179:e404-e415. [PMID: 37659753 DOI: 10.1016/j.wneu.2023.08.107] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/11/2023] [Revised: 08/24/2023] [Accepted: 08/25/2023] [Indexed: 09/04/2023]
Abstract
BACKGROUND Atypical teratoid/rhabdoid tumor (AT/RT) of the nervous system is a rare and highly malignant neoplasm, mainly affecting children, first recognized as a pathologic entity in 1996 and added to the World Health Organization Classification of the Tumors of the Central Nervous System in 2000. AT/RT is even rarer among adults and is associated with a worse prognosis. The aim of the present study was to analyze the different tumor features according to the location in adults. METHODS A comprehensive and detailed literature review of AT/RTs in adults was made. The demographic, management, and outcome data associated with tumor location were analyzed and compared; histopathologic and molecular features were also discussed. Furthermore, we added our personal case with brain hemispheric localization and reported a progression-free survival of 103 months after gross total resection and adjuvant radiotherapy showing a peculiar histopathologic pattern. RESULTS Female sex is mainly affected by AT/RT on median localizations, both intracranial and spinal, and by all sellar region cases. Gross total resection is mainly achieved among lateral compared with median localizations. Combined radiotherapy and chemotherapy is the most adopted adjuvant treatment in all tumor localizations and is related to better outcome. Postoperative death is reported only among sellar region localizations, whereas brain hemispheric cases show the best overall survival. CONCLUSIONS AT/RTs show different and peculiar features according to their location, which significantly affects the outcome; precise knowledge of them helps the neurosurgeon in planning the best strategy for treatment.
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Affiliation(s)
- Sergio Corvino
- Department of Neuroscience and Reproductive and Odontostomatological Sciences, Neurosurgical Clinic, School of Medicine, University of Naples "Federico II", Naples, Italy
| | - Marialaura Del Basso De Caro
- Department of Advanced Biomedical Sciences, Section of Pathology, University of Naples "Federico II", Naples, Italy
| | - Raduan Ahmed Franca
- Department of Advanced Biomedical Sciences, Section of Pathology, University of Naples "Federico II", Naples, Italy
| | - Giuseppe Corazzelli
- Department of Neuroscience and Reproductive and Odontostomatological Sciences, Neurosurgical Clinic, School of Medicine, University of Naples "Federico II", Naples, Italy
| | - Rosa Della Monica
- Department of Molecular Medicine and Medical Biotechnology, University "Federico II" of Naples, Naples, Italy
| | - Lorenzo Chiariotti
- Department of Molecular Medicine and Medical Biotechnology, University "Federico II" of Naples, Naples, Italy
| | - Francesco Maiuri
- Department of Neuroscience and Reproductive and Odontostomatological Sciences, Neurosurgical Clinic, School of Medicine, University of Naples "Federico II", Naples, Italy.
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3
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Kolin DL, Konstantinopoulos PA, Campos SM, Toumi G, Kolahi KA, Gars EJ, Howitt BE. Vulvar Yolk Sac Tumors Are Somatically Derived SMARCB1 (INI-1)-Deficient Neoplasms. Am J Surg Pathol 2022; 46:169-178. [PMID: 34265804 DOI: 10.1097/pas.0000000000001777] [Citation(s) in RCA: 4] [Impact Index Per Article: 1.3] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/26/2022]
Abstract
So-called primary yolk sac tumors of the vulva are very rare and often have an aggressive disease course. Their molecular features have not been previously characterized. There is also a well-documented group of SMARCB1 (INI-1)-deficient vulvar neoplasms, which includes proximal-type epithelioid sarcoma and myoepithelial carcinoma. Until now, "vulvar yolk sac tumors" and SMARCB1-deficient neoplasms were considered unrelated diseases. After reviewing an index case of a vulvar yolk sac tumor with loss of SMARCB1 by immunohistochemistry, we retrospectively identified 2 additional cases diagnosed as vulvar yolk sac tumors. Patient ages were 34, 32, and 25 years old, and 2 tumors were associated with a pregnancy. All 3 cases showed morphology typical of a yolk sac tumor, and by immunohistochemistry all were positive for SALL4, glypican-3, keratins, and lacked CD34 positivity. All tumors also demonstrated loss of SMARCB1 in tumor cells. Targeted molecular profiling was performed in 2 cases and identified 2 copy deletion of SMARCB1, without genomic alterations typically seen in gonadal yolk sac tumors. In the third case, isochromosome 12p was not identified by fluorescence in situ hybridization. All 3 patients had either local recurrences or distant metastases, and 2 died of disease. One patient had progressive disease while receiving the enhancer of zeste homolog 2 inhibitor tazemetostat. Overall, these findings suggest that vulvar tumors with pure yolk sac-like morphology may represent morphologic variants of SMARCB1-deficient tumors and not veritable germ cell neoplasia. This potential reclassification may have both prognostic and treatment implications and warrants study of additional extragonadal yolk sac tumors.
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Affiliation(s)
- David L Kolin
- Department of Pathology, Division of Women's and Perinatal Pathology, Brigham and Women's Hospital
| | | | - Susana M Campos
- Medical Gynecologic Oncology Program, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA
| | - Gisele Toumi
- Department of Pathology, Stanford University Medical Center, Stanford, CA
| | - Kevin A Kolahi
- Department of Pathology, Stanford University Medical Center, Stanford, CA
| | - Eric J Gars
- Department of Pathology, Stanford University Medical Center, Stanford, CA
| | - Brooke E Howitt
- Department of Pathology, Stanford University Medical Center, Stanford, CA
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4
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Mathkour M, Carsky K, Chabot AB, Werner C, Berry JF, Carr C, Lockwood JD, Keen JR, Bui CJ, Biro EE. Adult Pineal Region Atypical Teratoid Rhabdoid Tumor: A Case for Aggressive Surgical and Chemoradiation Management with Comprehensive Literature Review. World Neurosurg 2020; 142:117-127. [PMID: 32599188 DOI: 10.1016/j.wneu.2020.06.144] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2020] [Revised: 06/16/2020] [Accepted: 06/18/2020] [Indexed: 11/16/2022]
Abstract
BACKGROUND Atypical teratoid rhabdoid tumor (ATRT) is a rare, highly malignant central nervous system neoplasm classified as an embryonal grade IV neoplasm by the World Health Organization. ATRT generally occurs in children younger than 3 years, with 85 pathologically confirmed cases reported in adults. It is most commonly supratentorial, with only 9 confirmed adult cases localized to the pineal region. CASE DESCRIPTION The case is described of a 29-year-old man with a history of chronic migraines and a previously negative computed tomography scan of the head presenting with worsening headaches and new-onset diplopia with upward gaze palsy. Computed tomography and magnetic resonance imaging showed a hemorrhagic pineal mass with extension into the right thalamus. After resection, the immunohistochemical staining and cytogenetic profile proved consistent with ATRT, making it the ninth reported case of pineal ATRT in an adult, which was treated aggressively with good outcome. CONCLUSIONS Adult ATRT is rare, especially in the pineal region, with only 9 cases reported. Because of the aggressiveness, ATRT must be considered in the differential diagnosis of pineal region lesions because early diagnosis and aggressive treatment are key to prolonged survival.
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Affiliation(s)
- Mansour Mathkour
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA.
| | - Katie Carsky
- Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - A Bert Chabot
- Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Cassidy Werner
- Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - John F Berry
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Christopher Carr
- Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Joseph D Lockwood
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Joseph R Keen
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Cuong J Bui
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
| | - Erin E Biro
- Ochsner Clinic Foundation Department of Neurosurgery, New Orleans, Louisiana, USA; Tulane Medical Center Department of Neurosurgery, New Orleans, Louisiana, USA
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Mallereau CH, Ganau M, Todeschi J, Cebula H, Santin MDN, Virbel G, Pop R, Lhermitte B, Proust F, Chibbaro S. Primary Brain Rhabdomyosarcoma Causing Extracranial Metastases: Case Report with Narrative Review of Atypical Presentations and Their Diagnostic Challenges. World Neurosurg 2020; 138:363-368. [PMID: 32229305 DOI: 10.1016/j.wneu.2020.03.110] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/16/2020] [Revised: 03/17/2020] [Accepted: 03/18/2020] [Indexed: 01/21/2023]
Abstract
BACKGROUND Rhabdomyosarcoma is a rare malignant tumor originating from striated muscle cells. It accounts for only 3% of all soft tissue sarcomas in adults, and its metastases can also reach the central nervous system. Only sporadic cases of primary brain rhabdomyosarcoma (PBRMS) have been reported so far. CASE DESCRIPTION We discuss the atypical presentation and diagnostic challenge of PBRMS in a 65-year-old man. He presented with a 3-day history of progressive right hemiparesis caused by an unspecific left frontoparietal heterogeneously enhancing lesion. Total body computed tomography and positron emission tomography scans performed at baseline did not reveal other secondarisms. The patient underwent radical excision of the lesion, which allowed to establish the diagnosis, with immunohistochemical staining positive for desmin and myogenin. Stereotactic radiotherapy guaranteed local disease control; nonetheless, the patient also required adjuvant chemotherapy when he developed large right lung metastases 6 months postoperatively. CONCLUSIONS PBRMS can be hardly distinguished from other malignant brain tumors during preoperative radiologic workup; only histology can raise the suspicion of primary or metastatic rhabdomyosarcoma, depending on the presence of other distant lesions. Our review of the literature demonstrates that prognosis is poor: 44% of patients die within 1 year from diagnosis. Overall, survival seems to correlate with radical resection, tolerance of stereotactic or if necessary full neuraxis radiotherapy, and adjuvant chemotherapy. Given the high relapse rate, close monitoring and restaging are imperative.
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Affiliation(s)
| | - Mario Ganau
- Neurosurgery Department, Strasbourg University Hospital, Strasbourg, France
| | - Julien Todeschi
- Neurosurgery Department, Strasbourg University Hospital, Strasbourg, France
| | - Hélène Cebula
- Neurosurgery Department, Strasbourg University Hospital, Strasbourg, France
| | | | - Guillaume Virbel
- Radiotherapy Department, ICANS University Hospital, Strasbourg, France
| | - Raoul Pop
- Interventional Neuroradiology Unit, Strasbourg University Hospital, Strasbourg, France
| | - Benoit Lhermitte
- Neuro-histopathology Unit, Strasbourg University Hospital, Strasbourg, France
| | - Francois Proust
- Neurosurgery Department, Strasbourg University Hospital, Strasbourg, France
| | - Salvatore Chibbaro
- Neurosurgery Department, Strasbourg University Hospital, Strasbourg, France
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6
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Monteiro J, Santiago B, Manilha R, Viegas C, Oliveira A, Cunha e Sá M. Adult Atypical Teratoid/Rhabdoid Tumor in the Pineal Region: Case Report and Literature Review. World Neurosurg 2020; 134:428-433. [DOI: 10.1016/j.wneu.2019.11.075] [Citation(s) in RCA: 5] [Impact Index Per Article: 1.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/23/2019] [Revised: 11/12/2019] [Accepted: 11/13/2019] [Indexed: 12/24/2022]
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Ahmad M, Sekar V, Healy E, Rennie I, Cooke S. Case report: The unusual case of a sellar/suprasellar Extrarenal Rhabdoid tumour in an adult. INTERDISCIPLINARY NEUROSURGERY 2019. [DOI: 10.1016/j.inat.2019.01.014] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 10/27/2022] Open
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9
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Dardis C, Yeo J, Milton K, Ashby LS, Smith KA, Mehta S, Youssef E, Eschbacher J, Tucker K, Dawes L, Lambie N, Algar E, Hovey E. Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology and Treatment. Front Neurol 2017; 8:247. [PMID: 28676785 PMCID: PMC5476998 DOI: 10.3389/fneur.2017.00247] [Citation(s) in RCA: 31] [Impact Index Per Article: 3.9] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/28/2017] [Accepted: 05/18/2017] [Indexed: 12/20/2022] Open
Abstract
We present the first quantitative analysis of atypical teratoid rhabdoid tumors (ATRT) in adults, including two patients from our own institutions. These are of interest as one occurred during pregnancy and one is a long-term survivor. Our review of pathological findings of 50 reported cases of adult ATRT leads us to propose a solely ectodermal origin for the tumor and that epithelial–mesenchymal transition (EMT) is a defining feature. Thus, the term ATRT may be misleading. Our review of clinical findings shows that ATRT tends to originate in mid-line structures adjacent to the CSF, leading to a high rate of leptomeningeal dissemination. Thus, we hypothesize that residual undifferentiated ectoderm in the circumventricular organs, particularly the pituitary and pineal glands, is the most common origin for these tumors. We note that if growth is not arrested soon after diagnosis, or after the first relapse/progression, death is almost universal. While typically rapidly fatal (as in our first case), long-term remission is possible (as in our second). Significant predictors of prognosis were the extent of resection and the use of chemotherapy. Glial differentiation (GFAP staining) was strongly associated with leptomeningeal metastases (chi-squared p = 0.02) and both predicted markedly worse outcomes. Clinical trials including adults are rare. ATRT is primarily a disease of infancy and radiotherapy is generally avoided in those aged less than 3 years old. Treatment options in adults differ from infants in that cranio-spinal irradiation is a viable adjunct to systemic chemotherapy in the adult population. Given the grave prognosis, this combined approach appears reasonable. As effective chemotherapy is likely to cause myelosuppression, we recommend that stem-cell rescue be available locally.
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Affiliation(s)
- Christopher Dardis
- Department of Neurology, Barrow Neurological Institute, Phoenix, AZ, Unites States
| | - Jared Yeo
- University of New South Wales, Sydney, NSW, Australia
| | - Kelly Milton
- Department of Neurology, Barrow Neurological Institute, Phoenix, AZ, Unites States
| | - Lynn S Ashby
- Department of Neurology, Barrow Neurological Institute, Phoenix, AZ, Unites States
| | - Kris A Smith
- Department of Neurosurgery, Barrow Neurological Institute, Phoenix, AZ, United States
| | - Shwetal Mehta
- Laboratory of Glial Tumor Biology, Barrow Neurological Institute, Phoenix, AZ, United States
| | - Emad Youssef
- Department of Radiation Oncology, Barrow Neurological Institute, Phoenix, AZ, United States
| | - Jenny Eschbacher
- Department of Pathology, Barrow Neurological Institute, Phoenix, AZ, United States
| | - Kathy Tucker
- Hereditary Cancer Clinic, Prince of Wales Hospital, Randwick, NSW, Australia
| | - Laughlin Dawes
- Department of Diagnostic Radiology, Prince of Wales Hospital, Randwick, NSW, Australia
| | - Neil Lambie
- Department of Anatomical Pathology, Prince of Wales Hospital, Randwick, NSW, Australia
| | - Elizabeth Algar
- Hudson Institute of Medical Research, Clayton, VIC, Australia
| | - Elizabeth Hovey
- University of New South Wales, Sydney, NSW, Australia.,Department of Medical Oncology, Nelune Comprehensive Cancer Center, Prince of Wales Hospital, Randwick, NSW, Australia
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Ud Din N, Barakzai A, Memon A, Hasan S, Ahmad Z. Atypical Teratoid/ Rhabdoid Tumor of Brain: a Clinicopathologic Study of Eleven Patients and Review of Literature. Asian Pac J Cancer Prev 2017; 18:949-954. [PMID: 28545192 PMCID: PMC5494244 DOI: 10.22034/apjcp.2017.18.4.949] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/27/2022] Open
Abstract
Background: Atypical teratoid/ rhabdoid tumor (AT/RT) is a rare aggressive embryonal central nervous system (CNS) tumor of infancy and early childhood. Majority of the cases arise in the posterior fossa, and remaining in the cerebrum. Aims: To analyze the clinicopathologic features of AT/RT on a cohort of cases. Materials and methods: All reported cases of AT/RT at the Department of Pathology and Laboratory Medicine, Aga Khan University Hospital (AKUH) from 2007 to 2016 were reviewed for clinical and pathological features. Immunohistochemical stain for INI-1 was performed in all 11 cases. Follow up was obtained. Results: A total of 11 cases were identified. Seven patients were males and 4 were females. The ages ranged from 1 month to 48 months (mean 26.6 months). Six tumors were located in the cerebrum and 3 in the posterior fossa. Exact Location was not known in 2 cases. Histologically, rhabdoid cells were present in sheets in variable proportions in five cases, Medulloblastoma and PNET like areas were seen in 2 cases each. Immunohistochemical stains EMA (10/10), vimentin (7/7), CKAE1/AE3 (8/9), and CD99 (3/4), GFAP (6/10), ASMA (3/4) and synaptophysin (3/4) were positive in varying proportions while desmin was negative in all 6 cases in which it was performed. All 11 tumors lacked immunoreactivity for INI-1 protein. Four patients died of disease with a follow up ranging from 5 to 24 months. Conclusions: AT/RT is a rare highly aggressive embryonal tumor of CNS. A male predominance was noted in our series. We report the first and largest series from Pakistan.
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Affiliation(s)
- Nasir Ud Din
- Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi, Pakistan.
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Pereira CE, Lynch JC. Management strategies for neoplastic and vascular brain lesions presenting during pregnancy: A series of 29 patients. Surg Neurol Int 2017; 8:27. [PMID: 28303207 PMCID: PMC5339909 DOI: 10.4103/2152-7806.200575] [Citation(s) in RCA: 6] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/27/2016] [Accepted: 12/12/2016] [Indexed: 11/08/2022] Open
Abstract
BACKGROUND The occurrence of a brain tumor or intracranial vascular lesion during pregnancy is a rare event, but when it happens, it jeopardizes the lives of both the mother and infant. It also creates challenges of a neurosurgical, obstetric, and ethical nature. A multidisciplinary approach should be used for their care. METHODS Between 1986 and 2015, 12 pregnant women diagnosed with brain tumors and 17 women with intracranial vascular lesion underwent treatment at the Neurosurgery Department of the Servidores do Estado Hospital and Rede D'Or/São Luis. The Neurosurgery Department teamed up with Obstetrics Anesthesiology Departments in establishing the procedures. The patients' records, surgical descriptions, imaging studies, and histopathological material were reviewed. RESULTS Among 12 patients presenting with brain tumors, there were neither operative mortality nor fetal deaths. Among the vascular lesions, aneurysm rupture was responsible for bleeding in 6 instances. Arteriovenous malformation was diagnosed in 7 patients. In this subgroup, the maternal and fetal mortality rates were 11.7% and 23.7%, respectively. CONCLUSIONS We can assert that the association between a brain tumor and vascular lesions with pregnancy is a very unusual event, which jeopardizes both the lives of the mother and infant. It remains incompletely characterized due to the rare nature of these potentially devastating events. Knowing the exact mechanism responsible for the interaction of pregnancy and with these lesions will improve the treatment of these patients.
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Affiliation(s)
| | - Jose Carlos Lynch
- Neurosurgical and Obstetrics Departments of Servidores do Estado Hospital, RJ, Brazil
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Horiguchi H, Nakata S, Nobusawa S, Uyama S, Miyamoto T, Ueta H, Fujimoto N, Yokoo H. Adult-onset atypical teratoid/rhabdoid tumor featuring long spindle cells with nuclear palisading and perivascular pseudorosettes. Neuropathology 2016; 37:52-57. [DOI: 10.1111/neup.12317] [Citation(s) in RCA: 13] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/04/2016] [Revised: 05/19/2016] [Accepted: 05/22/2016] [Indexed: 12/22/2022]
Affiliation(s)
- Hidehisa Horiguchi
- Department of Laboratory Medicine and Pathology; Tokushima Municipal Hospital; Tokushima Japan
| | - Satoshi Nakata
- Department of Human Pathology; Gunma University Graduate School of Medicine; Maebashi Japan
| | - Sumihito Nobusawa
- Department of Human Pathology; Gunma University Graduate School of Medicine; Maebashi Japan
| | - Shinichi Uyama
- Department of Neurosurgery; Tokushima Municipal Hospital; Tokushima Japan
| | - Tadashi Miyamoto
- Department of Neurosurgery; Tokushima Municipal Hospital; Tokushima Japan
| | - Hiromi Ueta
- Department of Neurosurgery; Tokushima Municipal Hospital; Tokushima Japan
| | - Naomi Fujimoto
- Department of Neurosurgery; Tokushima Municipal Hospital; Tokushima Japan
| | - Hideaki Yokoo
- Department of Human Pathology; Gunma University Graduate School of Medicine; Maebashi Japan
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13
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Wu WW, Bi WL, Kang YJ, Ramkissoon SH, Prasad S, Shih HA, Reardon DA, Dunn IF. Adult Atypical Teratoid/Rhabdoid Tumors. World Neurosurg 2016; 85:197-204. [DOI: 10.1016/j.wneu.2015.08.076] [Citation(s) in RCA: 21] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 05/18/2015] [Revised: 08/23/2015] [Accepted: 08/24/2015] [Indexed: 12/17/2022]
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14
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Afif M, Khalil J, Kouhen F, Aissa A, Omour Y, Elkabous M, Elkacemi H, Kebdani T, Benjaafar N. [About a rare case of atypical rhabdoid teratoid tumor of the central nervous system in a pregnant woman]. Pan Afr Med J 2015; 20:2. [PMID: 25995799 PMCID: PMC4430151 DOI: 10.11604/pamj.2015.20.2.5877] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/03/2014] [Accepted: 12/13/2014] [Indexed: 12/05/2022] Open
Abstract
Les tumeurs rhabdoïdes tératoïdes atypiques du système nerveux central sont des tumeurs pédiatriques rares et de mauvais pronostic. La littérature rapporte une dizaine de cas chez l'adulte dont deux survenus au cours d'une grossesse. Nous rapportons dans ce travail, le cas d'une femme de 25 ans, enceinte de 14 semaines d'aménorrhée, qui a été opérée pour une tumeur rhabdoïde tératoïde atypique de la fosse cérébrale postérieure. Un complément thérapeutique a été discuté chez la patiente après interruption thérapeutique de grossesse, mais la patiente fut décédée avant de démarrer le traitement adjuvant. Nous décrivons brièvement les caractéristiques des tumeurs rhabdoïdes, et les particularités de sa prise en charge chez l'adulte.
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Affiliation(s)
- Mohammed Afif
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Jihane Khalil
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Fadila Kouhen
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Abdellah Aissa
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Youssef Omour
- Service de Radiologie, Institut National d'Oncologie de Rabat, Université Mohammed V, Rabat, Maroc
| | - Mustapha Elkabous
- Service d'Oncologie Médicale, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Hanan Elkacemi
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Tayeb Kebdani
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
| | - Noureddine Benjaafar
- Service de Radiothérapie, Institut National d'Oncologie, Université Mohammed V, Rabat, Maroc
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15
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Moscovici S, Fraifeld S, Cohen JE, Dotan S, Elchalal U, Shoshan Y, Spektor S. Parasellar Meningiomas in Pregnancy: Surgical Results and Visual Outcomes. World Neurosurg 2014; 82:e503-12. [DOI: 10.1016/j.wneu.2013.06.019] [Citation(s) in RCA: 15] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/05/2012] [Revised: 02/27/2013] [Accepted: 06/29/2013] [Indexed: 11/25/2022]
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Shitara S, Akiyama Y. Atypical teratoid/rhabdoid tumor in sellar turcica in an adult: A case report and review of the literature. Surg Neurol Int 2014; 5:75. [PMID: 24949218 PMCID: PMC4061576 DOI: 10.4103/2152-7806.133105] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 03/19/2014] [Accepted: 04/04/2014] [Indexed: 11/24/2022] Open
Abstract
Background: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system tumor composed of primitive rhabdoid cells that may differentiate along neuroectodermal, mesenchymal and epithelial lineages. AT/RT in adults is rare but not completely exceptional. It generally arises from the posterior fossa of infants, but the broad majority of the reported AT/RT in adults manifested supratentorially with the exception of four cases that arose in the cerebellum and two that arose in the spinal cord. Case Description: A 44-year-old female complained of visual disturbance. We performed craniotomies twice and removed partially for each time, but any malignant cells were not found in the specimens. Finally, we determined histological diagnosis from the extended lesion. She died of respiratory failure 17 months after the initial treatment. Conclusion: AT/RT should be considered in the differential diagnosis of a sellar lesion in adult patients. However AT/RT is rare in adults, the appropriate immunohistochemical evaluation should be performed to diagnose this rare entity.
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Affiliation(s)
- Satoshi Shitara
- Department of Neurosurgery, Tenri Hospital, Tenri, Nara, Japan
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17
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Kanoto M, Toyoguchi Y, Hosoya T, Kuchiki M, Sugai Y. Radiological image features of the atypical teratoid/rhabdoid tumor in adults: a systematic review. Clin Neuroradiol 2014; 25:55-60. [PMID: 24477665 DOI: 10.1007/s00062-013-0282-2] [Citation(s) in RCA: 23] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/18/2013] [Accepted: 12/28/2013] [Indexed: 10/25/2022]
Abstract
PURPOSE Atypical teratoid/rhabdoid tumor (AT/RT) occurs in children less than 3 years old, and has a very poor prognosis. AT/RT seldom occurs in adult. We have experienced four cases of AT/RT at our institute. The purpose of this study is to evaluate the radiological image findings of adult-onset AT/RT and to conduct a systematic review. METHODS Image findings of four AT/RTs in our institute were retrospectively evaluated by an experienced neuroradiologist. If the images were unavailable, image findings were evaluated from the former image interpretation report. We assembled papers of adult-onset AT/RT (n = 38) and evaluated the image findings. RESULTS AT/RT occurs in a variety of sites (spinal region, pineal region, suprasellar region, jugular foramen, and so on). High density on computed tomography (CT) was seen in 10 of 11 cases; mixed intensity in T2-weighted image was seen in 13 of 18 cases; and high intensity on diffusion-weighted image (DWI) was seen in 3 of 3 cases. Contrast enhancement was observed in all cases in which images were available. CONCLUSIONS We have experienced four adult-onset AT/RT cases at our institute and have evaluated image findings through systematic review. The image findings of high density on CT, high intensity on DWI, with low apparent diffusion coefficient, and a heterogenous component should lead to an inclusion of AT/RT in the differential diagnosis of a tumor; these findings may be able to suggest AT/RT; however, they cannot make the diagnosis.
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Affiliation(s)
- M Kanoto
- Department of Diagnostic Radiology, Yamagata University Faculty of Medicine, Iida-Nishi 2-2-2, 990-9585, Yamagata, Japan,
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18
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Babu R, Hatef J, McLendon RE, Cummings TJ, Sampson JH, Friedman AH, Adamson C. Clinicopathological characteristics and treatment of rhabdoid glioblastoma. J Neurosurg 2013; 119:412-9. [DOI: 10.3171/2013.3.jns121773] [Citation(s) in RCA: 17] [Impact Index Per Article: 1.4] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
Object
Rhabdoid glioblastoma (GB) is an exceedingly rare tumor in which some of the tumor cells possess rhabdoid features such as eccentric nuclei, abundant eosinophilic cytoplasm, and pseudopapillary formations. These tumors are exceptionally aggressive, and leptomeningeal dissemination is common. In the 9 previously reported cases, the longest survival was only 9 months, with a median survival of 17.8 weeks. The authors report the clinicopathological characteristics of 4 cases of rhabdoid GB and demonstrate the utility of intensive temozolomide and adjuvant therapy in these tumors. The authors also review the literature to provide the most comprehensive understanding of these rare tumors to date.
Methods
A retrospective review was performed of patients treated for GB at the Duke University Medical Center between 2004 and 2012. One of two experienced neuropathologists identified 4 cases as being rhabdoid GBs. Immunohistochemistry and fluorescence in situ hybridization analyses were performed in all cases. Kaplan-Meier analysis was used to assess overall survival, with the log-rank test being used to evaluate differences between survival curves. An extensive review of the literature was also performed.
Results
The median age of patients with rhabdoid GB was 30 years. Clinical presentation varied with location, with headache being a presenting symptom in 90% of patients. All lesions were supratentorial, and 45.5% of the cases involved the temporal lobe. Leptomeningeal dissemination occurred in 63.6% of patients, with 1 patient having extracranial metastasis to the scalp and lungs. Fluorescence in situ hybridization revealed epidermal growth factor receptor gain or amplification in all study cases. The median survival in the authors' cohort was significantly higher than that of all previously reported cases (27.5 vs 4.5 months, p = 0.003). Postoperative treatment in the authors' cohort included radiotherapy with concurrent temozolomide, bevacizumab, interleukin 13, CCNU, and/or etoposide.
Conclusions
Enhanced survival in the authors' 4 patients suggests that the current standard of care for the treatment of GB may be beneficial in rhabdoid GB cases, with postoperative radiotherapy and concomitant temozolomide treatment followed by adjuvant therapy. Due to the rapid tumor dissemination associated with these lesions, aggressive and timely therapy is warranted, with frequent surveillance and/or continued therapy despite stable disease. Additionally, patients should undergo full craniospinal imaging to monitor the development of distant metastatic disease.
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Affiliation(s)
- Ranjith Babu
- 1Departments of Surgery (Division of Neurosurgery),
| | | | | | | | | | | | - Cory Adamson
- 1Departments of Surgery (Division of Neurosurgery),
- 3Neurobiology, Duke University Medical Center; and
- 4Neurosurgery Section, Durham VA Medical Center, Durham, North Carolina
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19
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Endo S, Terasaka S, Yamaguchi S, Ikeda H, Kato T, Kobayashi H, Tanaka S, Houkin K. Primary rhabdoid tumor with low grade glioma component of the central nervous system in a young adult. Neuropathology 2012; 33:185-91. [PMID: 22765644 DOI: 10.1111/j.1440-1789.2012.01336.x] [Citation(s) in RCA: 9] [Impact Index Per Article: 0.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
Abstract
In the CNS, primary tumors with rhabdoid components are classified as atypical teratoid/rhabdoid tumor, rhabdoid meningioma or rhabdoid glioblastoma. The authors present a young adult patient with supratentorial rhabdoid tumor incidentally found after head trauma as a small pre-existing lesion in the parahippocampal gyrus. MRI demonstrated an area of hypointensity on T1-weighted images and hyperintensity on T2-weighted and fluid attenuated inversion recovery images. A serial MR scan revealed no change 3 months after the initial examination but drastic changes at 6 months. As the tumor and accompanying intratumoral hemorrhage enlarged rapidly, resection of the tumor was performed. Histopathology revealed that the main component of the tumor was typical rhabdoid cells with some necrotic areas. There were also pathological features consistent with oligoastrocytoma. The specimen had neither vascular proliferation usually seen in high-grade glioma nor the meningothelial pattern that suggests meningioma. Immunohistochemical findings revealed that cells were strongly positive for vimentin, epithelial membrane antigen and INI-1 antibody throughout the specimen. Further, monosomy 22 was detected by fluorescence in situ hybridization. The tumor was finally thought to be an unclassifiable primitive rhabdoid tumor with oligoastrocytoma that arose in the CNS. The patient died within 5 months of detection of the tumor, regardless of surgical resection, radiotherapy and chemotherapy.
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Affiliation(s)
- Shogo Endo
- Department of Neurosurgery, Hokkaido University Graduate School of Medicine, Sapporo, Japan
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20
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Motegi H, Kobayashi H, Terasaka S, Ishii N, Ito M, Shimbo D, Kubota K, Houkin K. Hemorrhagic onset of rhabdoid meningioma after initiating treatment for infertility. Brain Tumor Pathol 2012; 29:240-4. [PMID: 22350616 DOI: 10.1007/s10014-012-0088-y] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 08/22/2011] [Accepted: 02/02/2012] [Indexed: 11/29/2022]
Abstract
Rhabdoid meningioma (RM) is a rare aggressive phenotype and is classified as a grade III neoplasm by the World Health Organization. A 29-year-old woman initiated treatment with clomiphene citrate for infertility. Two weeks later, she presented with acute headache and nausea. Brain computed tomography and magnetic resonance imaging demonstrated a tumor with hematoma in the left frontoparietal region. Surgical resection was performed, and the tumor was subtotally removed. The tumor was diagnosed as a rhabdoid meningioma (RM). Despite radiation and chemotherapy, she experienced regrowth and dissemination to the spinal cord. She died 11 months after onset of symptoms. Spontaneous hemorrhage is an unusual presentation of RM. In our case, infertility treatment may have triggered progression and bleeding because of an imbalance of sex hormones.
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Affiliation(s)
- Hiroaki Motegi
- Department of Neurosurgery, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita-ku, Sapporo 060-8638, Japan
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21
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Mutou J, Hirose Y, Ikeda E, Yoshida K, Nakazato Y, Kawase T. Malignant brain tumor with rhabdoid features in an adult. Neurol Med Chir (Tokyo) 2011; 51:449-54. [PMID: 21701112 DOI: 10.2176/nmc.51.449] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/20/2022] Open
Abstract
Rhabdoid tumor (RT) of the central nervous system is an uncommon and aggressive neoplasm that usually affects pediatric patients. Currently, these tumors are classified as malignant RT or atypical teratoid/RT. Another entity of intraparenchymal brain tumor with a rhabdoid component is the extremely rare rhabdoid glioblastoma. A 23-year-old woman presented with a malignant RT in the right thalamus. The tumor was adjacent to the right lateral ventricle and was partially resected. Histological examination revealed prominent proliferation of rhabdoid cells, which is consistent with a diagnosis of malignant RT; the typical features of glioblastoma were not observed. The tumor cells stained positively for integrase interactor-1 and glial fibrillary acidic protein. Therefore, the tumor may have originated from glial components. Genetic analysis using comparative genomic hybridization showed a deoxyribonucleic acid copy-number gain on chromosome 7 but not on chromosome 22. The tumor did not respond to chemotherapy or radiotherapy, and the patient survived for only 4 months after surgery. The present case of malignant RTs shows certain similarities with those of rhabdoid glioblastoma. Further accumulation and analysis of data, including data from genetic analyses, may lead to the identification of a new type of malignant RT.
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Affiliation(s)
- Jun Mutou
- Department of Neurosurgery, School of Medicine, Keio University, Tokyo, Japan.
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22
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Shonka NA, Armstrong TS, Prabhu SS, Childress A, Choi S, Langford LA, Gilbert MR. Atypical teratoid/rhabdoid tumors in adults: a case report and treatment-focused review. J Clin Med Res 2011; 3:85-92. [PMID: 21811535 PMCID: PMC3140928 DOI: 10.4021/jocmr535w] [Citation(s) in RCA: 16] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Accepted: 03/10/2011] [Indexed: 01/15/2023] Open
Abstract
Atypical teratoid/rhabdoid tumor is predominantly a childhood tumor and has only been rarely reported in adults; therefore, treatment regimens are often extrapolated from the pediatric experience. Typically, children are treated with craniospinal radiation therapy which is often followed by systemic chemotherapy. Employing pediatric regimens to treat this tumor in adult patients poses a particular risk for myelosuppression, as the prescribed doses in pediatric protocols exceed those tolerated by adults, and conventional craniospinal radiation can be associated with prolonged myelotoxicity and a depletion of the bone marrow reserve in vertebrae of adults. Here we present a case of a woman with a pineal region atypical teratoid/rhabdoid tumor, an unusual adult cancer presenting in an atypical location. This is followed by a review of the disease in adult patients with an emphasis on treatment and suggestions to minimize myelotoxicity.
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Affiliation(s)
- Nicole A Shonka
- Division of Oncology and Hematology, University of Nebraska Medical Center, 987680 Nebraska Medical Center, Omaha NE 68198-7680, USA
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23
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Yamamoto J, Takahashi M, Nakano Y, Soejima Y, Saito T, Akiba D, Hirato J, Nakazato Y, Nishizawa S. Rapid progression of rhabdoid components of a composite high-grade glioma and rhabdoid tumor in the occipital lobe of an adult. Brain Tumor Pathol 2011; 29:113-20. [DOI: 10.1007/s10014-011-0069-6] [Citation(s) in RCA: 11] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 07/19/2011] [Accepted: 09/28/2011] [Indexed: 10/16/2022]
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24
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Schneiderhan TM, Beseoglu K, Bergmann M, Neubauer U, Macht S, Hänggi D, Reifenberger G, Riemenschneider MJ. Sellar atypical teratoid/rhabdoid tumours in adults. Neuropathol Appl Neurobiol 2011; 37:326-9. [DOI: 10.1111/j.1365-2990.2010.01111.x] [Citation(s) in RCA: 29] [Impact Index Per Article: 2.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/30/2022]
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25
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Takahashi K, Nishihara H, Katoh M, Yoshinaga T, Mahabir R, Kanno H, Kimura T, Tanino M, Ikeda J, Sawamura Y, Nagashima K, Tanaka S. A case of atypical teratoid/rhabdoid tumor in an adult, with long survival. Brain Tumor Pathol 2010; 28:71-6. [DOI: 10.1007/s10014-010-0008-y] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/06/2010] [Accepted: 10/05/2010] [Indexed: 11/27/2022]
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26
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Umredkar A, Bal A, Vashista RK. Atypical teratoid/rhabdoid tumour of the central nervous system in adult: case report. Br J Neurosurg 2010; 24:699-704. [DOI: 10.3109/02688697.2010.496877] [Citation(s) in RCA: 12] [Impact Index Per Article: 0.8] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
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27
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Han L, Qiu Y, Xie C, Zhang J, Lv X, Xiong W, Wang W, Zhang X, Wu P. Atypical teratoid/rhabdoid tumors in adult patients: CT and MR imaging features. AJNR Am J Neuroradiol 2010; 32:103-8. [PMID: 21051520 DOI: 10.3174/ajnr.a2361] [Citation(s) in RCA: 26] [Impact Index Per Article: 1.7] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/07/2022]
Abstract
Primary AT/RT is a rare highly malignant tumor of the CNS, usually occurring in children younger than 5 years of age. The objective of this study was to characterize the CT and MR imaging findings in a series of 5 adult patients with pathologically proved AT/RT. All 5 AT/RTs were supratentorial. In 2 patients who underwent nonenhanced CT, the tumors appeared isoattenuated, and 1 of the 2 tumors contained calcifications. Solid portions of the tumors on MR imaging were isointense on T1-weighted, T2-weighted, and FLAIR images, and 1 case showed restricted diffusion on DWI. The tumors also demonstrated a bandlike rim of strong enhancement surrounding a central cystic area on contrast-enhanced T1-weighted imaging. One tumor was associated with destruction of the calvaria. Although AT/RTs can have nonspecific findings, the tumors in our series were large and isointense on T1-weighted, T2-weighted, and FLAIR images with central necrosis and prominent rim enhancement.
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Affiliation(s)
- L Han
- Department of Medical Imaging and Interventional Radiology, Cancer Center, Sun Yat-Sen University, Guangzhou, PR China
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28
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Adult variant of atypical teratoid/rhabdoid tumor: Immunohistochemical and ultrastructural confirmation of a rare tumor in the sella tursica. Pathol Res Pract 2010; 206:788-91. [DOI: 10.1016/j.prp.2010.07.004] [Citation(s) in RCA: 36] [Impact Index Per Article: 2.4] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/22/2010] [Revised: 07/06/2010] [Accepted: 07/09/2010] [Indexed: 11/18/2022]
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29
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Lynch JC, Gouvêa F, Emmerich JC, Kokinovrachos G, Pereira C, Welling L, Kislanov S. Management strategy for brain tumour diagnosed during pregnancy. Br J Neurosurg 2010; 25:225-30. [DOI: 10.3109/02688697.2010.508846] [Citation(s) in RCA: 45] [Impact Index Per Article: 3.0] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/13/2022]
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30
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31
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Woehrer A, Slavc I, Waldhoer T, Heinzl H, Zielonke N, Czech T, Benesch M, Hainfellner JA, Haberler C. Incidence of atypical teratoid/rhabdoid tumors in children. Cancer 2010; 116:5725-32. [DOI: 10.1002/cncr.25540] [Citation(s) in RCA: 106] [Impact Index Per Article: 7.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 04/06/2010] [Revised: 06/11/2010] [Accepted: 06/28/2010] [Indexed: 11/08/2022]
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32
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Takei H, Adesina AM, Mehta V, Powell SZ, Langford LA. Atypical teratoid/rhabdoid tumor of the pineal region in an adult. J Neurosurg 2010; 113:374-9. [DOI: 10.3171/2009.10.jns09964] [Citation(s) in RCA: 35] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/12/2023]
Abstract
An atypical teratoid/rhabdoid tumor (AT/RT) is a highly malignant embryonal tumor most often occurring in the posterior fossa in children younger than 3 years of age. Adult cases of AT/RT are very rare, and 27 cases with a diagnosis of either AT/RT or (malignant) rhabdoid tumor have been reported to date. The authors report an adult case of an AT/RT occurring in the pineal region with molecular cytogenetic and immunohistochemical confirmation. A 33-year-old woman presented with a 2-month history of headache and blurred vision progressing to diplopia, and was admitted emergently due to deteriorating mental status. An MR image showed a heterogeneously enhancing mass involving the posterior third ventricle and pineal region with mild hydrocephalus. She underwent a subtotal resection of the tumor and was then treated with chemoradiation. Thirteen months after surgery, she was still alive with radiological evidence of recurrence/residual lesions. Histological sections showed epithelioid cellular sheets of rhabdoid tumor cells with scattered mitotic figures. Immunohistochemically, the tumor cells were diffusely and strongly positive for epithelial membrane antigen and vimentin, and showed focal expression of glial fibrillary acidic protein, pancytokeratin, and neurofilament protein. Loss of nuclear immunoreactivity for INI1 protein was observed. Fluorescence in situ hybridization analysis showed monosomy 22. Histologically, this tumor consisted exclusively of epithelioid tumor cells with rhabdoid features. The differential diagnoses include rhabdoid glioblastoma, metastatic carcinoma, and rhabdoid meningioma. Molecular testing to identify monosomy 22 or deletions of the chromosome 22q11 containing the INI1/hSNF5 gene and/or immunohistochemical staining with INI1 antibody is of great importance for the diagnosis of this tumor.
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Affiliation(s)
| | | | - Vidya Mehta
- 2Texas Children's Cancer Center and Baylor College of Medicine; and
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33
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Eap C, Litré CF, Noudel R, Theret E, Duntze J, Collin P, Rousseaux P. [Primitive malignant rhabdoid tumor of the central nervous system in an adolescent. A case study]. Neurochirurgie 2010; 56:404-7. [PMID: 20594960 DOI: 10.1016/j.neuchi.2010.05.005] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/15/2008] [Accepted: 04/09/2010] [Indexed: 10/19/2022]
Abstract
Primitive malignant rhabdoid tumors of the central nervous system are rare and have a poor prognosis. Adult and adolescent cases are exceptional. We report the case of a 16-year-old girl who presented an intratumoral hemorrhage in a rhabdoid tumor. She was treated with surgery, followed by intravenous and intrathecal chemotherapy. Despite intensive treatment, she died 5 months after diagnosis. We discuss the different therapeutic options for this patient and review the literature on this kind of tumor.
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Affiliation(s)
- C Eap
- Service de neurochirurgie, CHU de Reims, 45, rue Cognacq-Jay, 51092 Reims, France
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34
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Ohba S, Yoshida K, Hirose Y, Ikeda E, Nakazato Y, Kawase T. Cerebral tumor with extensive rhabdoid features and a favorable prognosis. J Neurosurg 2009; 111:492-6. [DOI: 10.3171/2008.11.jns08776] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 11/06/2022]
Abstract
This 32-year-old woman, 27 weeks pregnant, harbored a cystic mass with a solid component in the left frontal lobe. Histologically, the lesion was hypercellular and contained a diffuse sheet of eosinophilic cells of various sizes. The cells were almost round and had a few prominent, eccentrically placed, hyperchromatic nuclei of various sizes. Immunohistochemically, the tumor was reactive for vimentin, epithelial membrane antigen, cytokeratin AE1/AE3, smooth muscle actin, and BAF47/INI-1, and negative for glial fibrillary acidic protein, neurofilament protein, S100 protein, CK7, CK20, HMB-45, MIC2, and Bcl-2. The Ki 67 labeling index was 4.2%. Comparative genomic hybridization analysis revealed aberrations of the chromosomal copy number of +7 and −10. This tumor could not be categorized according to the present World Health Organization classification. Results of staining with glial fibrillary acidic protein were not consistent with a glioma, and staining with INI-1 was inconsistent with atypical teratoid/rhabdoid tumor. The tumor was therefore designated as a “cerebral tumor with extensive rhabdoid features.”
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Affiliation(s)
| | | | - Yuichi Hirose
- 3Department of Neurosurgery, School of Medicine, Fujita Health University, Toyoake; and
| | - Eiji Ikeda
- 2Pathology, School of Medicine, Keio University, Tokyo
| | - Yoichi Nakazato
- 4Department of Human Pathology, Gunma University Graduate School of Medicine, Gunma, Japan
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35
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Mirone G, Bouazza S, Chibbaro S, Bresson D, Pavlika M, George B. Primary malignant rhabdoid tumour of the brain in adults. J Clin Neurosci 2009; 16:1495-7. [PMID: 19683928 DOI: 10.1016/j.jocn.2009.02.011] [Citation(s) in RCA: 10] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 11/20/2008] [Revised: 01/21/2009] [Accepted: 02/03/2009] [Indexed: 11/17/2022]
Abstract
Malignant rhabdoid tumour (MRT) was described for the first time in the kidney, and is rarely reported in the brain. Most rhabdoid tumours affect infants and young children and there have been only isolated adult patients reported. The optimal treatment for this very aggressive tumour has not yet been established. We describe the clinical and pathological features of a rare primary malignant rhabdoid tumour of the brain in a 27-year-old pregnant female. The literature is reviewed briefly and the role of the INI1 gene in adult MRTs and the also possible interactions between MRTs and pregnancy are discussed.
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Affiliation(s)
- G Mirone
- Department of Neurosurgery, Lariboisiere Hospital, 75475 Paris Cedex 10, France.
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36
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Atypical teratoid/rhabdoid tumor of the central nervous system in an 18-year-old patient. Clin Neuropathol 2009; 28:1-10. [PMID: 19216214 DOI: 10.5414/npp28001] [Citation(s) in RCA: 36] [Impact Index Per Article: 2.3] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 01/11/2023] Open
Abstract
OBJECTIVE Atypical teratoid/rhabdoid tumors are aggressive neoplasms of the central nervous system occurring mainly in the early childhood and rarely in adults. We described a case of this tumor in an 18-year-old male patient without previous medical history. MATERIAL AND METHODS The neoplasm was localized in the right frontotemporal area of the brain and was totally excised. The specimen was fixed in formalin and embedded in paraffin. The histological and immunohistochemical features of the neoplasm were assessed, while sequencing analysis as well as interphase fluorescence in situ hybridization (FISH) were performed. RESULTS Histological and immunohistochemical analysis demonstrated atypical rhabdoid cells strongly and diffusely positive for EMA and Vimentin as well as focally immunoreactive for SMA and GFAP. Additionally, though no abnormalities detected in the coding sequence of the INI1 gene, interphase FISH studies were consistent with a homozygous deletion of the INI1 gene in the majority of examined nuclei. INI1 immunostaining demonstrated diffuse loss of nuclear INI1 expression in tumor cells. Taken together, the results were consistent with a diagnosis of atypical teratoid/rhabdoid tumor (ATRT). CONCLUSIONS 26 previous cases of ATRT have been reported in adults, thus far. To our knowledge, this is the eighth case of an ATRT reported in an adult patient having genetic confirmation and the first one in which the tumor is, partly, localized in the right temporal area of the brain. This unusual presentation underlines the necessity of considering this devastating neoplasm in the differential diagnosis of malignant brain tumors of young adults.
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37
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Bourdeaut F, Fréneaux P, Thuille B, Bergeron C, Laurence V, Brugières L, Vérité C, Michon J, Delattre O, Orbach D. Extra-renal non-cerebral rhabdoid tumours. Pediatr Blood Cancer 2008; 51:363-8. [PMID: 18506766 DOI: 10.1002/pbc.21632] [Citation(s) in RCA: 64] [Impact Index Per Article: 3.8] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/01/2023]
Abstract
BACKGROUND Rhabdoid tumours (RTs) are aggressive malignancies of childhood, mainly occurring in the kidney and brain. We describe a national multi-centre retrospective analysis of extra-renal non-cranial RTs (ERRTs). PROCEDURE Diagnosis relied on central histological review and/or on hSNF5/INI1 defect, evidenced by immunohistochemistry or molecular screening. Clinical data were obtained from physicians. RESULTS Twenty six patients fulfilled the inclusion criteria. Median age at diagnosis was 28 months [0-366], including late childhood and young adults cases. Surgery, either initial or secondary, was complete in three. All but three patients received chemotherapy, with variable regimens. Additional radiotherapy was used in six patients. Median time to recurrence or progression was 5 months [0-44], and one patient remained free of disease at 7 years. CONCLUSIONS ERRTs share the same chemosensitivity, early recurrence, and poor prognosis as renal and cerebral RTs. No chemotherapy regimen demonstrates a superior response.
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Makuria AT, Rushing EJ, McGrail KM, Hartmann DP, Azumi N, Ozdemirli M. Atypical teratoid rhabdoid tumor (AT/RT) in adults: review of four cases. J Neurooncol 2008; 88:321-30. [PMID: 18369529 DOI: 10.1007/s11060-008-9571-z] [Citation(s) in RCA: 59] [Impact Index Per Article: 3.5] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/13/2007] [Accepted: 03/17/2008] [Indexed: 11/26/2022]
Abstract
Atypical teratoid/rhabdoid (AT/RT) tumor is a rare, highly malignant tumor of the central nervous system (CNS) most commonly found in children less than 5 years of age. Although the vast majority of cases are diagnosed in young children, there have been isolated case reports in adults. Since its histological appearance can be confused with other tumors, especially in adults, separating AT/RT from other neoplasms may be difficult. In many instances, a reliable diagnosis is not possible without demonstrating the lack of nuclear INI1 protein expression by immunohistochemical methods. The patients (three males and one female) ranged in age from 23 to 42 years (mean age, 32 years). Radiographically, two tumors were localized in the right fronto-parietal region, one was frontal and the other was found in the left temporal lobe. Varying degrees of hydrocephalus and heterogeneous enhancement were present on MRI. In all cases, diagnosis during intraoperative consultation and preliminary diagnosis was different from the final diagnosis after immunohistochemical analysis. Immunohistochemical staining showed that the tumor cells were positive for vimentin and reacted variably for keratin, epithelial membrane antigen (EMA), synaptophysin, neurofilament protein, CD34, and smooth muscle actin (SMA). All were negative for GFAP, S-100, desmin and CD99. Three of the four cases lacked nuclear expression of INI1. One patient is alive with no evidence of disease 17 years after the diagnosis. In adult examples of AT/RT, the diagnosis requires a high index of suspicion, with early tissue diagnosis and a low threshold for investigation with INI1 immunohistochemistry to differentiate this entity from other morphologically similar tumors. Although the prognosis is dismal in pediatric population, long term survival is possible in adult AT/RT cases after surgery and adjuvant radiotherapy and chemotherapy.
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Affiliation(s)
- Addisalem T Makuria
- Department of Pathology, Georgetown University Hospital, 3900 Reservoir Road N.W, Washington, DC 20007, USA
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Lynch JC, Emmerich JC, Kislanov S, Gouvêa F, Câmara L, Silva SMS, D’Ippolito MM. Tumor cerebral e gravidez. ARQUIVOS DE NEURO-PSIQUIATRIA 2007; 65:1211-5. [DOI: 10.1590/s0004-282x2007000700023] [Citation(s) in RCA: 4] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Subscribe] [Scholar Register] [Received: 08/13/2007] [Accepted: 09/13/2007] [Indexed: 11/21/2022]
Abstract
O diagnóstico de um tumor cerebral durante a gravidez é um fato raro que coloca a mãe e o concepto em risco de vida. OBJETIVO: Avaliar a melhor forma de conduzir uma paciente grávida portadora de um tumor cerebral. MÉTODO: Realizamos análise retrospectiva dos prontuários e imagens de seis pacientes grávidas portadoras de tumor cerebral. RESULTADOS: Vários tipos histológicos de tumor cerebral podem estar associados à gravidez. O meningioma é o mais freqüente. Nessa série não observamos óbito cirúrgico materno. Em duas pacientes, o parto ocorreu antes da craniotomia e em outras quatro o parto foi realizado após a neurocirurgia. CONCLUSÃO: O momento mais adequado para a realização da craniotomia para remoção tumoral irá depender da gravidade do quadro neurológico, do tipo histológico presumível da lesão, e da idade gestacional do embrião.
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Affiliation(s)
| | | | - Sara Kislanov
- Hospital dos Servidores do Estado do Rio de Janeiro, Brasil
| | - Fabiano Gouvêa
- Hospital dos Servidores do Estado do Rio de Janeiro, Brasil
| | - Lygia Câmara
- Hospital dos Servidores do Estado do Rio de Janeiro, Brasil
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Zarovnaya EL, Pallatroni HF, Hug EB, Ball PA, Cromwell LD, Pipas JM, Fadul CE, Meyer LP, Park JP, Biegel JA, Perry A, Rhodes CH. Atypical teratoid/rhabdoid tumor of the spine in an adult: case report and review of the literature. J Neurooncol 2007; 84:49-55. [PMID: 17377740 DOI: 10.1007/s11060-007-9339-x] [Citation(s) in RCA: 40] [Impact Index Per Article: 2.2] [Reference Citation Analysis] [Abstract] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/31/2006] [Accepted: 01/22/2007] [Indexed: 11/27/2022]
Abstract
Atypical teratoid/rhabdoid tumors (AT/RTs) are rare, malignant brain tumors which occur almost exclusively in infants and young children. There have been only 17 cases of AT/RT in adults reported in the medical literature and the rarity of this tumor makes the diagnosis in adults difficult. We describe a case of an AT/RT of the spinal cord in an adult. A 43-year old woman presented with neck and left upper extremity pain. An MRI demonstrated a mass lesion in the dorsal spinal cord extending from C4 to C6. The patient underwent a C3 through C7 laminectomy. In consultation with senior pathologists at other institutions, the lesion was initially diagnosed as a rhabdoid meningioma. Molecular genetic studies revealed monosomy 22 and loss of expression of the INI1 gene in 22q11.2. Subsequently, immunohistochemical studies revealed the absence of INI1 gene expression in the malignant cells, supporting the diagnosis of AT/RT. The patient underwent three additional surgical procedures for recurrent disease throughout the neuraxis secondary to leptomeningeal spread of the tumor. Despite aggressive surgical resection, adjuvant chemotherapy and radiation therapy, the patient succumbed to the disease two and a half years after her initial presentation. An unrestricted autopsy was performed. To our knowledge, this is the first case of a spinal atypical teratoid/rhabdoid tumor in an adult fully documented with molecular, immunohistochemical, cytogenetic and autopsy findings.
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Affiliation(s)
- Elena L Zarovnaya
- Department of Pathology, Dartmouth-Hitchcock Medical Center, One Medical Center Drive, Lebanon, NH 03756, USA
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