Case Reports:

Intrathoracic synovial sarcoma with BRAF V600E mutation

Ida Russo, Sabina Barresi, Pier Luigi Di Paolo, Valentina Di Ruscio, Giada Del Baldo, Annalisa Serra, Silvia Vallese, Evelina Miele, Angela Mastronuzzi, Rita Alaggio, Andrea Ferrari and Giuseppe Maria Milano _

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Oncotarget. 2023; 14:703-708. https://doi.org/10.18632/oncotarget.28475

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Ida Russo1, Sabina Barresi2, Pier Luigi Di Paolo4, Valentina Di Ruscio1, Giada Del Baldo1, Annalisa Serra1, Silvia Vallese2, Evelina Miele1, Angela Mastronuzzi1, Rita Alaggio2, Andrea Ferrari3 and Giuseppe Maria Milano1

1 Department of Pediatric Hematology and Oncology, Gene and Cellular Therapy, Bambino Gesù Children's Hospital IRCCS, Rome, Italy

2 Department of Pathology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy

3 Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milano, Italy

4 Department of Radiology, Bambino Gesù Children's Hospital IRCCS, Rome, Italy

Correspondence to:

Giuseppe Maria Milano, email: [email protected]

Keywords: synovial sarcoma; next-generation sequencing; BRAF V600E mutation; targeted therapy

Received: May 18, 2023     Accepted: June 28, 2023     Published: July 07, 2023

Copyright: © 2023 Russo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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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