扩大 BCOR 内部串联重复肉瘤的范围:一例非儿童鼻咽癌病例。

IF 3.5 4区 医学 Q3 CELL BIOLOGY
Pathobiology Pub Date : 2024-01-01 Epub Date: 2024-05-08 DOI:10.1159/000539239
Florian Piques, Martin Penicaud, Wassim Essamet, Simon Cabello-Aguilar, Aude Trinquet, Julie A Vendrell, Valérie Costes, Jérôme Solassol
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引用次数: 0

摘要

导言:具有BCOR(BCL6核心抑制因子)改变(如第15外显子内部串联重复)的未分化小圆细胞肉瘤通常被描述为一类儿科埃文样小圆细胞肉瘤:与此不同,我们报告了一例 71 岁女性鼻窦肉瘤病例,其特点是 BCOR 内部串联重复(ITD)。据我们所知,以前从未在老年患者的鼻腔和鼻窦肉瘤中发现过这种情况。所发现的重复与儿童肾脏透明细胞肉瘤中描述的最小临界区相似。这种位于 PCGF1 结合域内的改变被认为会破坏 PRC1.12 的活性:本病例强调了深入研究这类罕见肿瘤分子生物学的必要性,并探讨了潜在的替代治疗方案。患者在接受了两个周期的多柔比星和环磷酰胺化疗后病情得到缓解,突显了BCOR ITD肉瘤潜在治疗方案的前景。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Expanding the Spectrum of Sarcoma with an Internal Tandem Duplication of BCOR: A Non-Pediatric Nasosinusal Case.

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.

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来源期刊
Pathobiology
Pathobiology 医学-病理学
CiteScore
8.50
自引率
0.00%
发文量
47
审稿时长
>12 weeks
期刊介绍: ''Pathobiology'' offers a valuable platform for the publication of high-quality original research into the mechanisms underlying human disease. Aiming to serve as a bridge between basic biomedical research and clinical medicine, the journal welcomes articles from scientific areas such as pathology, oncology, anatomy, virology, internal medicine, surgery, cell and molecular biology, and immunology. Published bimonthly, ''Pathobiology'' features original research papers and reviews on translational research. The journal offers the possibility to publish proceedings of meetings dedicated to one particular topic.
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