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.

Intrathoracic synovial sarcoma with BRAF V600E mutation / Russo, Ida; Barresi, Sabina; DI PAOLO, PIER LUIGI; DI RUSCIO, Valentina; DEL BALDO, Giada; Serra, Annalisa; Vallese, Silvia; Miele, Evelina; Mastronuzzi, Angela; Alaggio, Rita; Ferrari and Giuseppe Maria Milano, Andrea. - In: ONCOTARGET. - ISSN 1949-2553. - 14:(2023), pp. 703-708. [10.18632/ONCOTARGET.28475]

Intrathoracic synovial sarcoma with BRAF V600E mutation

Pier Luigi Di Paolo;Valentina Di Ruscio;Giada Del Baldo;Silvia Vallese;Evelina Miele;Angela Mastronuzzi;Rita Alaggio;
2023

Abstract

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.
2023
synovial sarcoma; next-generation sequencing; BRAF V600E mutation; targeted therapy
01 Pubblicazione su rivista::01i Case report
Intrathoracic synovial sarcoma with BRAF V600E mutation / Russo, Ida; Barresi, Sabina; DI PAOLO, PIER LUIGI; DI RUSCIO, Valentina; DEL BALDO, Giada; Serra, Annalisa; Vallese, Silvia; Miele, Evelina; Mastronuzzi, Angela; Alaggio, Rita; Ferrari and Giuseppe Maria Milano, Andrea. - In: ONCOTARGET. - ISSN 1949-2553. - 14:(2023), pp. 703-708. [10.18632/ONCOTARGET.28475]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1686287
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