Paratesticular Endometrial Stromal Sarcoma-Like Sarcoma With EPC1-SUZ12 Fusion

IF 3.1 2区 医学 Q2 GENETICS & HEREDITY
Paul E. Rosenstiel, Kyle Meinke, John Lavin
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引用次数: 0

Abstract

Endometrial stromal sarcoma-like (ESS-like) sarcomas have rarely been described in male patients and represent a subset of “Mullerian analog” tumors. These ESS-like sarcomas most commonly arise in the paratesticular or pelvic regions and often harbor the same signature molecular fusion events that are typical of endometrial stromal sarcoma (ESS) of the uterine corpus. Here we report and describe an ESS-like sarcoma of the paratesticular soft tissue in an 85-year-old man with an EPC1-SUZ12 t(10;17)(p11.22;q12) fusion. This fusion event has been described in a high-grade uterine ESS one time previously where it displayed an aggressive clinical course. However, our patient showed no evidence of metastatic disease prior to surgery or in a short follow-up period after resection.

EPC1-SUZ12融合的睾丸旁子宫内膜间质肉瘤样肉瘤
子宫内膜间质肉瘤样(ESS-like)肉瘤在男性患者中很少被描述,它代表了“缪勒氏类似物”肿瘤的一个亚群。这些ESS样肉瘤最常见于睾丸旁或盆腔区域,通常具有与子宫体子宫内膜间质肉瘤(ESS)相同的典型分子融合事件。在此,我们报告并描述了一例85岁男性EPC1-SUZ12 t(10;17)(p11.22;q12)融合的睾丸旁软组织ess样肉瘤。这种融合事件在以前的一次高级别子宫ESS中被描述过,在那里它显示了一个侵略性的临床过程。然而,我们的患者在手术前或在切除后的短随访期内没有显示转移性疾病的证据。
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来源期刊
Genes, Chromosomes & Cancer
Genes, Chromosomes & Cancer 医学-遗传学
CiteScore
7.00
自引率
8.10%
发文量
94
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.
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