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Wang Y, Zhu Q, Wu Y, Li B, Su X, Xiang C, Han Y. Multiregion exome sequencing indicates a monoclonal origin of esophageal spindle-cell squamous cell carcinoma. J Pathol 2024; 264:55-67. [PMID: 39022845 DOI: 10.1002/path.6324] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 09/23/2023] [Revised: 05/10/2024] [Accepted: 05/31/2024] [Indexed: 07/20/2024]
Abstract
Esophageal spindle-cell squamous cell carcinoma (ESS) is a rare biphasic neoplasm composed of a carcinomatous component (CaC) and a sarcomatous component (SaC). However, the genomic origin and gene signature of ESS remain unclear. Using whole-exome sequencing of laser-capture microdissection (LCM) tumor samples, we determined that CaC and SaC showed high mutational commonality, with the same top high-frequency mutant genes, mutation signatures, and tumor mutation burden; paired samples shared a median of 25.5% mutation sites. Focal gains were found on chromosomes 3q29, 5p15.33, and 11q13.3. Altered genes were mainly enriched in the RTK-RAS signaling pathway. Phylogenetic trees showed a monoclonal origin of ESS. The most frequently mutated oncogene in the trunk was TP53, followed by NFE2L2, KMT2D, and MUC16. Prognostic associations were found for CDC27, LRP2, APC, and SNAPC4. Our data highlight the monoclonal origin of ESS with TP53 as a potent driver oncogene, suggesting new targeted therapies and immunotherapies as treatment options. © 2024 The Pathological Society of Great Britain and Ireland.
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Affiliation(s)
- Yulu Wang
- Department of Pathology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, PR China
| | - Qian Zhu
- Department of Pathology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, PR China
| | - Yaqing Wu
- Kanghui Biotech Co., Ltd., Shenyang, PR China
| | - Boyi Li
- Kanghui Biotech Co., Ltd., Shenyang, PR China
| | - Xiaoxing Su
- Kanghui Biotech Co., Ltd., Shenyang, PR China
| | - Chan Xiang
- Department of Pathology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, PR China
| | - Yuchen Han
- Department of Pathology, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, PR China
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Li J, Wang S, Tang X, Que L, Han W, Yu B. Primary maxillary sinus carcinosarcoma with multidisciplinary management: a case report with 4 years follow-up and literature review. BMC Oral Health 2023; 23:96. [PMID: 36788533 PMCID: PMC9926723 DOI: 10.1186/s12903-022-02604-5] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/19/2022] [Accepted: 11/15/2022] [Indexed: 02/16/2023] Open
Abstract
BACKGROUND Primary maxillary sinus carcinosarcoma (CS) is an extremely rare malignant tumor characterized by biphasic histologic components, lack of standardized treatment, high recurrence rate, and poor prognosis. This paper presents a case of primary maxillary sinus CS and its treatment. CASE PRESENTATION A 39-year-old female patient complained of right facial pain and maxillary teeth numbness on March 21, 2018. Computed tomography examination revealed a malignant mass with osteolytic destruction. Preoperative biopsy suggested sarcomatoid carcinoma or CS. A total right maxillectomy under general anesthesia was performed on April 12, 2018. The final staging was T3N0M0 (ACJJ 2019). Postoperative radiotherapy and chemotherapy were performed. On May 26, 2018, the patient received the first cycle of doxorubicin plus ifosfamide. Two days before radiotherapy, the patient received an intra-oral prosthesis. From June 20, 2018, to August 22, 2018, the patient received concurrent chemoradiotherapy: radiotherapy (60 Gy in 30 fractions) and the second cycle of doxorubicin. Then, the patient received four cycles of doxorubicin plus ifosfamide. The patient was followed for 39 months with no evidence of disease. CONCLUSION Using multidisciplinary therapy, clinical-stage T3N0M0 (ACJJ 2019) maxillary sinus CS may achieve a good prognosis.
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Affiliation(s)
- Jiajia Li
- Department of Oral and Maxillofacial Surgery, Shanghai East Hospital, Tongji University School of Medicine, 150 Jimo Road, Shanghai, 200120, China. .,Department of Head and Neck Oncology, State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, NO.14, 3rd Section of Ren Min Nan Rd., Chengdu, 610041, Sichuan, China. .,Department of Oral and Maxillofacial Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan, China.
| | - Shaohai Wang
- Department of Oral and Maxillofacial Surgery, Shanghai East Hospital, Tongji University School of Medicine, 150 Jimo Road, Shanghai, 200120, China.
| | - Xiufa Tang
- grid.13291.380000 0001 0807 1581Department of Head and Neck Oncology, State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, NO.14, 3rd Section of Ren Min Nan Rd., Chengdu, 610041 Sichuan China ,grid.13291.380000 0001 0807 1581Department of Oral and Maxillofacial Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan China
| | - Lin Que
- grid.13291.380000 0001 0807 1581Department of Head and Neck Oncology, State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, NO.14, 3rd Section of Ren Min Nan Rd., Chengdu, 610041 Sichuan China ,grid.13291.380000 0001 0807 1581Department of Oral and Maxillofacial Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan China
| | - Wenzhe Han
- grid.13291.380000 0001 0807 1581Department of Head and Neck Oncology, State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, NO.14, 3rd Section of Ren Min Nan Rd., Chengdu, 610041 Sichuan China ,grid.13291.380000 0001 0807 1581Department of Oral and Maxillofacial Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan China
| | - Bo Yu
- grid.13291.380000 0001 0807 1581Department of Head and Neck Oncology, State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, NO.14, 3rd Section of Ren Min Nan Rd., Chengdu, 610041 Sichuan China ,grid.13291.380000 0001 0807 1581Department of Oral and Maxillofacial Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan China
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Fu Y, Wang PP, He D, Zheng Y, Ding ZY. Major pathological response after neoadjuvant immunotherapy in esophageal spindle cell carcinoma: A case report. Thorac Cancer 2021; 12:1234-1239. [PMID: 33619875 PMCID: PMC8046125 DOI: 10.1111/1759-7714.13905] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.5] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 01/20/2021] [Revised: 02/07/2021] [Accepted: 02/07/2021] [Indexed: 02/05/2023] Open
Abstract
Esophageal spindle cell carcinoma (ESpCC) is a rare subtype of esophageal carcinoma, accounting for 1% of all esophageal malignancies. The clinical outcome is unknown due to the lack of treatment options. Here, we present the case of a 60‐year‐old male with initially unresectable ESpCC, in which platinum‐based concurrent chemoradiotherapy was unsuccessful. He was subsequently treated with neoadjuvant immunotherapy and after surgery achieved a complete pathological response; therefore, neoadjuvant immunotherapy might be a novel option for ESpCC patients.
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Affiliation(s)
- Yang Fu
- Department of Biotherapy, Cancer Center, West China Hospital, West China Medical School, Sichuan University, Chengdu, China
| | - Pei-Pei Wang
- Department of Biotherapy, Cancer Center, West China Hospital, West China Medical School, Sichuan University, Chengdu, China
| | - Du He
- Department of Pathology, West China Hospital, West China Medical School, Sichuan University, Chengdu, China
| | - Yue Zheng
- Department of Biotherapy, Cancer Center, West China Hospital, West China Medical School, Sichuan University, Chengdu, China
| | - Zhen-Yu Ding
- Department of Biotherapy, Cancer Center, West China Hospital, West China Medical School, Sichuan University, Chengdu, China
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