• MEK inhibitor
• NF1 gene
• mosaic
• plexiform neurofibroma
• therapy

• Humans
• Neurofibromatosis 1/diagnosis
• Neurofibromatosis 1/genetics
• Neurofibromatosis 1/therapy
• Neurofibromatosis 1/drug therapy
• Neurofibromatosis 1/pathology
• Neurofibromatosis 1/epidemiology
• Japan/epidemiology
• Neurofibromin 1/genetics
• Neurofibroma, Plexiform/genetics
• Neurofibroma, Plexiform/diagnosis
• Benzimidazoles/therapeutic use

• Café-au-lait macules
• Child neurology
• Lisch nodules
• NF1
• Neurofibromas
• Neurofibromatosis
• Optic glioma
• Pediatric neurology

• Neurofibromatosis 1/genetics
• Humans

• Gulf Cooperation Council
• children
• management
• neurofibromatosis type 1
• referral

• Malignant peripheral nerve
• Neurofibromatosis type 1
• PET/CT A B S T R A C T
• Thyroid
• sheath tumor

Neurofibromatosis type 1 (NF1) is the most common form of neurofibromatosis. It is associated with neurofibromas, gliomas, neurofibrosarcomas, and neuroendocrine and hematopoietic tumors. We present a case of scalp plexiform neurofibromatosis associated with intrathoracic fibrosarcoma.

An 18-year-old female presented with a 15-year history of plexiform scalp mass. She had multiple café-au-lait patches on her trunk and extremities and a first-degree relative with a plexiform right shoulder mass. She was managed by a multidisciplinary team of plastic and reconstructive surgeons, neurosurgeons, cardiothoracic surgeons, otorhinolaryngologists, ophthalmologists, pulmonologists, and pathologists. The histology of the excised scalp mass was that of a malignant peripheral nerve sheath tumor (neurofibrosarcoma). She subsequently developed upper chest and back pain with associated breathlessness and was found to have an intra-thoracic tumor. She had two sessions of exploratory right thoracotomy with subtotal excision of an aggressive, highly hemorrhagic, infiltrative mucinous tumor. The histology was a fibrosarcoma. The patient died a few hours following the second thoracotomy.

NF1 is associated with several tumors, among which are neurofibrosarcomas. Intra-thoracic fibrosarcoma requires aggressive surgical resection; recurrence may be delayed with radiotherapy and chemotherapy. The prognosis is however poor, and survival beyond one year is unusual. Once one tumor is found, other body systems should be evaluated for the possibility of other tumors.

Neurofibromatosis type 1 (NF-1) is a genetic disorder associated with dermatological, musculoskeletal, and neurological features. Apart from these, knowledge of other uncommon manifestations, including intrathoracic and pulmonary involvement, is crucial for early diagnosis and treatment. These patients are predisposed to various sarcomatous and non-sarcomatous malignancies. We report the case of an elderly lady with NF-1 who presented with pleural effusion related to the genetic disorder, which was missed, and elaborate on the diagnostic workup done to reach a diagnosis.

• (18) F-FDG PET/CT
• Ewing sarcoma
• Non-rhabdomyosarcoma soft tissue sarcoma
• Osteosarcoma
• Rhabdomyosarcoma

The aim of the study was to evaluate the utility of ¹⁸fluorine-fluorodeoxyglucose (¹⁸F-FDG) positron emission tomography/computed tomography (PET/CT) in the diagnosis, staging, restaging, and treatment response of childhood malignancies.

This study included 52 patients (32 boys, 20 girls) who were referred to our clinic between November 2008 and December 2018 with the diagnosis of malignancy. The patients were evaluated retrospectively. Median age of the patients was 13 years (range 2-17). ¹⁸F-FDG was given to the patients intravenously, and time of flight with PET/16 slice CT was performed 1 hour thereafter. The lowest dose was 2 mCi (74 MBq) and the highest dose was 10 mCi (370 MBq). Fasting blood sugars of all patients were found below 200 mg/dL (11.1 mmol/L).

¹⁸F-FDG PET/CT was performed to evaluate the response to treatment in 38 of 52 children, staging in 11 patients (staging and evaluation of the response to treatment in nine of them), restaging in 2 patients, restaging, and evaluation of the response to treatment in 1 patient. ¹⁸F-FDG PET/CT examination was reported as normal in 13 patients (5 girls, 8 boys). The pathological ¹⁸F-FDG uptake was detected in 39 patients (14 girls, 25 boys), which indicated metastasis and/or recurrence of the primary disease. Total number of deaths was 30 (13 girls, 17 boys).

¹⁸F-FDG PET/CT has a significant role for staging, restaging, treatment response, and detection of metastatic disease but it is limited for the early diagnosis of childhood cancers

• 18F-FDG PET/CT
• childhood malignancy
• response
• restaging
• staging

• Diffusion-weighted imaging
• F18-FDG PET/CT
• Malignancy
• Peripheral nerve

• Fluorodeoxyglucose F18
• Humans
• Magnetic Resonance Imaging
• Neoplasms
• Nerve Sheath Neoplasms/diagnostic imaging
• Peripheral Nerves/diagnostic imaging
• Peripheral Nervous System Neoplasms/diagnostic imaging
• Positron Emission Tomography Computed Tomography
• Positron-Emission Tomography
• Retrospective Studies

• gastrointestinal stromal tumor
• malignant peripheral nerve sheath tumor
• neoplasms
• neurofibromatosis type 1
• plexiform neurofibroma

Distinguishing between benign and malignant peripheral nerve sheath tumors (MPNSTs) in neurofibromatosis 1 (NF1) patients prior to excision can be challenging. How can MPNST be most accurately diagnosed using clinical symptoms, magnetic resonance imaging (MRI) findings (tumor size, depth, and necrosis), positron emission tomography (PET) measures (SUV_peak, SUV_max, SUV_{max tumor}/SUV_{mean liver}, and qualitative scale), and combinations of the above? Methods. All NF1 patients who underwent PET imaging at our institution (January 1, 2007–December 31, 2016) were included. Medical records were reviewed for clinical findings; MR images and PET images were interpreted by two fellowship-trained musculoskeletal and nuclear medicine radiologists, respectively. Receiver operating characteristic (ROC) curves were created for each PET measurement; the area under the curve (AUC) and thresholds for diagnosing malignancy were calculated. Logistic regression determined significant predictors of malignancy.

Our population of 41 patients contained 34 benign and 36 malignant tumors. Clinical findings did not reliably predict MPNST. Tumor depth below fascia was highly sensitive; larger tumors were more likely to be malignant but without a useful cutoff for diagnosis. Necrosis on MRI was highly accurate and was the only significant variable in the regression model. PET measures were highly accurate, with AUCs comparable and cutoff points consistent with prior studies. A diagnostic algorithm was created using MRI and PET findings.

MRI and PET were more effective at diagnosing MPNST than clinical features. We created an algorithm for preoperative evaluation of peripheral nerve sheath tumors in NF1 patients, for which additional validation will be indicated.

• Magnetic resonance imaging
• Malignant peripheral nerve sheath tumor
• Plexiform neurofibroma
• Positron emission tomography
• Quantitative feature extraction

• ¹⁸f-fdg pet/ct
• café-au-lait macules
• neurofibromatosis

• Adolescent
• Diagnosis, Differential
• Fluorodeoxyglucose F18/administration & dosage
• Humans
• Male
• Neurofibromatosis 1/diagnostic imaging
• Positron Emission Tomography Computed Tomography/methods

Rapidly enlarging, painful plexiform neurofibromas (PN) in neurofibromatosis type 1 (NF1) patients are at higher risk for harboring a malignant peripheral nerve sheath tumor (MPNST). Fludeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) has been used to support more invasive diagnostic and therapeutic interventions. However, PET/CT imparts an untoward radiation hazard to this population with tumor suppressor gene impairment. The use of FDG PET coupled with magnetic resonance imaging (MRI) rather than CT is a safer alternative but its relative diagnostic sensitivity requires verification. Ten patients (6 females, 4 males, mean age 27 years, range 8–54) with NF1 and progressive PN were accrued from our institutional NF Clinic. Indications for PET scanning included increasing pain and/or progressive disability associated with an enlarging PN on serial MRIs. Following a clinically indicated whole-body FDG PET/CT, a contemporaneous PET/MRI was obtained using residual FDG activity with an average time interval of 3–4 h FDG-avid lesions were assessed for both maximum standardized uptake value (SUVmax) from PET/CT and SUVmax from PET/MR and correlation was made between the two parameters. 26 FDG avid lesions were detected on both PET/CT and PET/MR with an accuracy of 100%. SUVmax values ranged from 1.4–10.8 for PET/CT and from 0.2-5.9 for PET/MRI. SUVmax values from both modalities demonstrated positive correlation (r = 0.45, P < 0.001). PET/MRI radiation dose was significantly lower (53.35% ± 14.37% [P = 0.006]). In conclusion, PET/MRI is a feasible alternative to PET/CT in patients with NF1 when screening for the potential occurrence of MPNST. Reduction in radiation exposure approaches 50% compared to PET/CT.

• Neurofibromatosis type 1
• peripheral nerve sheath tumor
• positron emission tomography/magnetic resonance

Patients with retroperitoneal sarcoma can present to a variety of clinicians with non‐specific symptoms and retroperitoneal sarcomas can be incidental findings. Failure to recognize retroperitoneal sarcomas on imaging can lead to inappropriate management in non‐specialist centers. Therefore it is critical that the possibility of retroperitoneal sarcoma should be considered with prompt referral to a soft tissue sarcoma unit. This review guides clinicians through a diagnostic pathway, introduces concepts in response assessment and new imaging developments.

• CT
• MRI
• diagnosis
• retroperitoneum
• soft tissue sarcoma

When pediatric, adolescent, and young adult patients present with a bone sarcoma, treatment decisions, especially after relapse, are complex and require a multidisciplinary approach. This review presents scenarios commonly encountered in the therapy of bone sarcomas with the goal of objectively presenting a consensus, multidisciplinary management approach. Little variation was found in the authors' group with respect to local control or systemic therapy. Clinical trials were universally prioritized in all settings. Decisions regarding relapse therapies in the absence of a clinical trial had very minor variations initially, but a consensus was reached after a literature review and discussion. This review presents a concise document and figures as a starting point for evidence‐based care for patients with these rare diseases. This framework allows prospective decision making and prioritization of clinical trials. It is hoped that this framework will inspire and focus future clinical research and thus lead to new trials to improve efficacy and reduce toxicity. Cancer 2017;123:2206–2218. © 2017 American Cancer Society.

This review presents a pathway for the management of common clinical scenarios that arise in the treatment of bone sarcomas in children, adolescents, and young adults. Clinical trials should be prioritized when they are available, and for those times when trials are unavailable, a consensus, multidisciplinary management approach to bone sarcomas is presented.

• Ewing sarcoma
• adolescent and young adult (AYA)
• chemotherapy
• osteosarcoma
• pathways
• pediatric

• MPNST
• MRI
• Nerve sheath
• PET/CT
• Tumor

Positron emission tomography (PET) is a minimally invasive technique which has been well validated for the diagnosis, staging, monitoring of response to therapy, and disease surveillance of adult oncology patients. Traditionally the value of PET and PET/computed tomography (CT) hybrid imaging has been less clearly defined for paediatric oncology. However recent evidence has emerged regarding the diagnostic utility of these modalities, and they are becoming increasingly important tools in the evaluation and monitoring of children with known or suspected malignant disease. Important indications for 2-deoxy-2-(¹⁸F)fluoro-D-glucose (FDG) PET in paediatric oncology include lymphoma, brain tumours, sarcoma, neuroblastoma, Langerhans cell histiocytosis, urogenital tumours and neurofibromatosis type I. This article aims to review current evidence for the use of FDG PET and PET/CT in these indications. Attention will also be given to technical and logistical issues, the description of common imaging pitfalls, and dosimetric concerns as they relate to paediatric oncology.

• Positron emission tomography
• Computed tomography
• Fluorodeoxyglucose F18
• Paediatrics
• Oncology
• Technical issues
• Dosimetry

• Hodgkin lymphoma
• Klinefelter syndrome
• Neurofibromatosis type 1
• germ-cell tumours
• pediatric oncology

• Ewing sarcoma
• chemotherapy
• osteosarcoma
• pediatric sarcoma
• rhabdomyosarcoma
• synovial sarcoma

• R25 CA147832 NCI NIH HHS