Widening the Spectrum of Fusion Events in Schwannoma: Identification of a Novel TANC1::HTRA1 Fusion.

IF 2.8 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2025-08-01 DOI:10.1002/gcc.70072

James A Watkins, Patrick Tarpey, Maria O'Donovan, John A Tadross, Nadia Mohammed

引用次数: 0

Abstract

A range of genomic drivers have been identified in schwannomas, including a number of translocations, most commonly SH3PXD2A::HTRA1. To date, despite the analysis of large numbers of cases, no examples of variant HTRA1 partners have been described. We describe a schwannoma arising in the periportal region in which a novel TANC1::HTRA1 fusion was identified. The identification of this variant expands the range of fusion drivers in schwannoma and offers insight into the pathogenic mechanism of HTRA1 fusions and their utility in molecular diagnosis.

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扩大神经鞘瘤中融合事件的频谱：一种新的TANC1::HTRA1融合的鉴定。

在神经鞘瘤中已经发现了一系列基因组驱动因素，包括许多易位，最常见的是SH3PXD2A::HTRA1。迄今为止，尽管对大量病例进行了分析，但没有描述变异HTRA1伴侣的例子。我们描述了在门静脉周围区域出现的神经鞘瘤，其中发现了一种新的TANC1::HTRA1融合。该变异的发现扩大了神经鞘瘤中融合驱动因子的范围，并为HTRA1融合的致病机制及其在分子诊断中的应用提供了新的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.