在直肠肌样白肌瘤中发现新型 MIR143HG::PLAG1 基因融合体

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2024-04-24 DOI:10.1002/gcc.23239

Shuanzeng Wei, Jianming Pei, Paul Belser, Teresa Lee, Jeffrey M. Farma, Arthur S. Patchefsky, Douglas B. Flieder, Elizabeth A. Montgomery

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引用次数: 0

摘要

类粘液性子宫肌瘤（MLS）是一种罕见但证据充分的肿瘤，与传统的子宫肌瘤相比，其预后往往较差。这种罕见的肉瘤曾在子宫、女性外生殖器、软组织和其他部位出现过。然而，直肠 MLS 还未见明确报道。最近有报道称，5 例 MLS 存在 PLAG1 融合（TRPS1::PLAG1、RAD51B::PLAG1 和 TRIM13::PLAG1）。在本报告中，我们介绍了一例通过 RNA 下一代测序检测到新型 MIR143HG::PLAG1 融合的直肠 MLS。

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Novel MIR143HG::PLAG1 gene fusion identified in a rectal myxoid leiomyosarcoma

Myxoid leiomyosarcoma (MLS) is a rare but well-documented tumor that often portends a poor prognosis compared to the conventional leiomyosarcoma. This rare sarcoma has been reported in the uterus, external female genitalia, soft tissue, and other locations. However, a definite rectal MLS has not been reported. Recently five cases of MLS were reported to harbor PLAG1 fusions (TRPS1::PLAG1, RAD51B::PLAG1, and TRIM13::PLAG1). In this report, we present a case of rectal MLS with a novel MIR143HG::PLAG1 fusion detected by RNA next-generation sequencing.

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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.