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PMID (37417899)
Authors Russo I, Barresi S, Di Paolo PL, Di Ruscio V, Del Baldo G, Serra A, Vallese S, Miele E, Mastronuzzi A, Alaggio R, Ferrari A, Milano GM
Title Intrathoracic synovial sarcoma with BRAF V600E mutation.
Journal Vol Issue Date Pages Journal Short Title
Oncotarget 14 2023 Jul 07 703-708 Oncotarget
URL
Abstract Text We report a case of 15-year-old boy with intrathoracic synovial sarcoma who relapsed after standard chemotherapy, surgery and radiotherapy. The molecular analysis of the tumour identified a BRAF V600E mutation at time of progression of relapsed disease under third line systemic treatment. This mutation is commonly seen in melanomas and papillary thyroid cancers, but less prevalent (typically <5%) across a variety of other cancer types. The patient underwent selective BRAF inhibitor Vemurafenib treatment achieving partial response (PR) with a progression free survival (PFS) ratio of 1.6 months and an overall survival of 19 months, alive in continuous PR. This case highlights the role of routinely next generation sequencing (NGS) used to drive treatment choice and to investigate extensively synovial sarcoma tumour for BRAF mutation.

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Molecular Profile Treatment Approach
Gene Name Source Synonyms Protein Domains Gene Description Gene Role
Therapy Name Drugs Efficacy Evidence Clinical Trials
Drug Name Trade Name Synonyms Drug Classes Drug Description
Gene Variant Impact Protein Effect Variant Description Associated with drug Resistance
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E synovial sarcoma predicted - sensitive Vemurafenib Case Reports/Case Series Actionable In a clinical case study, Zelboraf (vemurafenib) resulted in a partial response after 4 months of treatment in a patient with intrathoracic synovial sarcoma harboring SS18-SSX1 (e10:e6) and BRAF V600E (PMID: 37417899). 37417899