成熟心肌细胞脂肪瘤(Hamartoma of Mature Cardiac Myocytes),表现为位于心房间沟的多形性心外膜肿瘤,并伴有 7 号染色体拷贝数异常的基因融合。

IF 2.3 4区 医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS Cardiovascular Pathology Pub Date : 2024-05-29 DOI:10.1016/j.carpath.2024.107660
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引用次数: 0

摘要

成熟心肌细胞脂肪瘤(Hamartoma of Mature Cardiac Myocytes,HMCM)是一种极为罕见的心脏肿瘤,其特征是分化成熟的横纹心肌细胞良性生长,通常累及心室心肌。我们描述了一例 15 岁女性的病例,她有短暂的心房颤动病史,心外膜上长有息肉状肿瘤,肿瘤以短蒂附着于心房间沟。切除的标本显示出与 HMCM 一致的特征。虽然这些肿瘤与任何已知的分子或细胞遗传学异常无关,但我们发现了融合转录本以及 7 号染色体复杂的拷贝数异常。
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Hamartoma of mature cardiac myocytes presenting as a polypoid epicardial tumor in the interatrial groove and with gene fusions by copy number anomalies of chromosome 7

Hamartoma of mature cardiac myocytes (HMCM) is an extremely rare cardiac tumor characterized by benign growth of differentiated mature striated cardiac myocytes, and usually involves the ventricular myocardium. We describe the case of a 15-year-old female who presented with a short history of atrial fibrillation and a polypoid epicardial tumor that was attached to the interatrial groove by a short pedicle. The resected specimen showed features consistent with HMCM. Although these tumors are not associated with any known molecular or cytogenetic abnormalities, we identified fusions transcripts along with complex copy number anomalies of chromosome 7.

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来源期刊
Cardiovascular Pathology
Cardiovascular Pathology 医学-病理学
CiteScore
7.50
自引率
2.70%
发文量
71
审稿时长
18 days
期刊介绍: Cardiovascular Pathology is a bimonthly journal that presents articles on topics covering the entire spectrum of cardiovascular disease. The Journal''s primary objective is to publish papers on disease-oriented morphology and pathogenesis from clinicians and scientists in the cardiovascular field. Subjects covered include cardiovascular biology, prosthetic devices, molecular biology and experimental models of cardiovascular disease.
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