小儿原发性心脏纺锤形细胞肿瘤伴有罕见的 PDGFRA::USP8 基因融合:病例报告。

IF 1.3 4区 医学 Q3 PATHOLOGY
Pediatric and Developmental Pathology Pub Date : 2024-07-01 Epub Date: 2024-02-24 DOI:10.1177/10935266231221903
Ariel Gershon, Anita Nagy, Gino R Somers, Shi-Joon Yoo, Furqan Shaikh, Osami Honjo, Robert Siddaway, Haiying Chen
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引用次数: 0

摘要

我们报告了一例原发性心脏纺锤形细胞肿瘤病例,该肿瘤具有相关的组织学特征和罕见的 PDGFRA::USP8 基因融合,患者是一名 3 岁男孩。患者的心脏肿块主要位于右心室,起源于室间隔。手术切除了肿块,肿块边缘呈阴性。病理结果显示,这是一种未分类的纺锤形细胞肿瘤,具有 PDGFRA::USP8 基因融合。这种基因融合以前只在医学文献中报道过两次,一次是在小儿心脏肉瘤中,另一次是在一名成年女性的腹部软组织肿瘤中。患者在切除术后 11 个月仍生存良好,无复发迹象。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.

We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.

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来源期刊
CiteScore
3.70
自引率
5.30%
发文量
59
审稿时长
6-12 weeks
期刊介绍: The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.
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