Expanding the Spectrum of Sarcoma with an Internal Tandem Duplication of BCOR: A Non-Pediatric Nasosinusal Case.

Autor:	Piques F; Laboratoire de Biologie des Tumeurs Solides, University Hospital of Montpellier, Université de Montpellier, Montpellier, France., Penicaud M; Service d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital de la Conception, APHM, Université Aix-Marseille, Marseille, France., Essamet W; Service d'Anatomie et Cytologie Pathologiques, Hôpital de la Timone, Université Aix-Marseille, Marseille, France., Cabello-Aguilar S; Laboratoire de Biologie des Tumeurs Solides, University Hospital of Montpellier, Université de Montpellier, Montpellier, France., Trinquet A; Laboratoire d'Anatomie et de Cytologie Pathologiques, University Hospital of Montpellier, Université de Montpellier, Montpellier, France., Vendrell JA; Laboratoire de Biologie des Tumeurs Solides, University Hospital of Montpellier, Université de Montpellier, Montpellier, France., Costes V; Laboratoire d'Anatomie et de Cytologie Pathologiques, University Hospital of Montpellier, Université de Montpellier, Montpellier, France., Solassol J; Laboratoire de Biologie des Tumeurs Solides, University Hospital of Montpellier, Université de Montpellier, Montpellier, France.
Jazyk:	angličtina
Zdroj:	Pathobiology : journal of immunopathology, molecular and cellular biology [Pathobiology] 2024; Vol. 91 (5), pp. 370-374. Date of Electronic Publication: 2024 May 08.
DOI:	10.1159/000539239
Abstrakt:	Introduction: Undifferentiated small round-cell sarcomas with BCL6 corepressor (BCOR) alterations, such as an internal tandem duplication (ITD) within exon 15, are typically described as a pediatric group of Ewing-like small round-cell sarcomas. Case Presentation: In contrast to this notion, we report the case of a 71-year-old woman with a nasosinusal sarcoma featuring a BCOR ITD. To the best of our knowledge, this presence had not been previously documented in a sarcoma of the nasal and sinus cavities in an elderly patient. The identified duplication shares a similar minimal critical region as described in clear-cell sarcomas of the kidney in children. This alteration, located within the PCGF1 binding domain, is believed to disrupt the activity of PRC1.1. Conclusion: This case underscores the need for in-depth research into the molecular biology of these rare tumors and explores potential alternative treatment options. The patient achieved remission after two cycles of doxorubicin and cyclophosphamide chemotherapy, highlighting the promise of potential therapeutic options for BCOR ITD sarcomas. (© 2024 S. Karger AG, Basel.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu