News Release

Case Report: Intrathoracic synovial sarcoma with BRAF V600E mutation

Peer-Reviewed Publication

Impact Journals LLC

Figure 2

image: Figure 2: (A) Axial T2 MR shows a heterogeneous mass in the cardiophrenic space with evidence of anterior chest wall invasion and intercostal invasion. (B) Axial T2 MR shows 35 % of reduction in size of the mass in the cardiophrenic space. view more 

Credit: 2023 Russo et al.

“The prognosis of recurrent/metastatic SS remains poor, highlighting the need for a novel therapeutic strategy.”

BUFFALO, NY- July 18, 2023 – A new case report was published in Oncotarget's Volume 14 on July 7, 2023, entitled, “Intrathoracic synovial sarcoma with BRAF V600E mutation.”

Synovial sarcoma (SS) is a highly malignant mesenchymal tumor that occurs mainly in adolescents and young adults. The treatment of SS is multimodal, involving surgery, radiotherapy and chemotherapy. The overall prognosis is generally quite satisfactory in children and adolescents with localized SS at diagnosis. However, the outcome remains poor for patients who relapse, with a reported 5-year post-relapse survival of around 30%.

In this new paper, researchers 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 from Italy’s Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) report the case of a 15-year-old boy with intrathoracic synovial sarcoma who relapsed after standard chemotherapy, surgery and radiotherapy. The molecular analysis of the tumor 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 routine next-generation sequencing (NGS) used to drive treatment choice and to investigate SS tumors for BRAF mutations.

“Our data highlight the importance of implementing molecular tests in SS patients to evaluate BRAF mutational actual incidence in these neoplasms.”

 

Read the full report: DOI: https://doi.org/10.18632/oncotarget.28475 

Correspondence to: Giuseppe Maria Milano

Email: giuseppemaria.milano@opbg.net 

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

About Oncotarget: Oncotarget (a primarily oncology-focused, peer-reviewed, open access journal) aims to maximize research impact through insightful peer-review; eliminate borders between specialties by linking different fields of oncology, cancer research and biomedical sciences; and foster application of basic and clinical science.

To learn more about Oncotarget, visit Oncotarget.com and connect with us on social media:

 

Sign up for free Altmetric alerts about this article: https://oncotarget.altmetric.com/details/email_updates?id=10.18632%2Foncotarget.28475

Click here to subscribe to Oncotarget publication updates.

For media inquiries, please contact: media@impactjournals.com.

 

Oncotarget Journal Office

6666 East Quaker Str., Suite 1A

Orchard Park, NY 14127

Phone: 1-800-922-0957 (option 2)

###


Disclaimer: AAAS and EurekAlert! are not responsible for the accuracy of news releases posted to EurekAlert! by contributing institutions or for the use of any information through the EurekAlert system.