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儿童原发性心脏梭形细胞肿瘤伴罕见 PDGFRA::USP8 基因融合：病例报告。

A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.

机构信息

Medical Genetics and Genomics, University of Toronto, Toronto, ON, Canada.

Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada.

出版信息

Pediatr Dev Pathol. 2024 Jul-Aug;27(4):335-339. doi: 10.1177/10935266231221903. Epub 2024 Feb 24.

DOI:10.1177/10935266231221903
PMID:38401149
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11340235/
Abstract

We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare 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 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.

摘要

我们报告了一例 3 岁男孩的原发性心脏梭形细胞肿瘤，具有令人担忧的组织学特征和罕见的基因融合。该患者表现为主要位于右心室的巨大心内肿块，起源于室间隔。肿块大体上无边界地被切除。病理显示为未分类的梭形细胞肿瘤，存在基因融合。该基因融合仅在医学文献中报道过两次，一次是在儿科心脏肉瘤中，另一次是在成年女性的腹部软组织肿瘤中。患者在切除后 11 个月无复发迹象，生存情况良好。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/f9e164cf12cb/10.1177_10935266231221903-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/c184d3cb3bd0/10.1177_10935266231221903-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/bbfe4af0c07a/10.1177_10935266231221903-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/1ac59be96db1/10.1177_10935266231221903-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/f9e164cf12cb/10.1177_10935266231221903-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/c184d3cb3bd0/10.1177_10935266231221903-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/bbfe4af0c07a/10.1177_10935266231221903-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/1ac59be96db1/10.1177_10935266231221903-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6e74/11340235/f9e164cf12cb/10.1177_10935266231221903-fig4.jpg

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Mod Pathol. 2021 Dec;34(12):2122-2129. doi: 10.1038/s41379-021-00874-y. Epub 2021 Jul 26.
2
The oncogenic role of ubiquitin specific peptidase (USP8) and its signaling pathways targeting for cancer therapeutics.泛素特异性肽酶（USP8）的致癌作用及其作为癌症治疗靶点的信号通路。
Arch Biochem Biophys. 2021 Apr 15;701:108811. doi: 10.1016/j.abb.2021.108811. Epub 2021 Feb 16.
3
USP8 maintains embryonic stem cell stemness via deubiquitination of EPG5.
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Nat Commun. 2019 Apr 1;10(1):1465. doi: 10.1038/s41467-019-09430-4.
4
Emergency Ross Procedure for Pediatric Aortic Valve Myxofibrosarcoma.小儿主动脉瓣黏液纤维肉瘤急诊 Ross 手术
Ann Thorac Surg. 2019 Mar;107(3):e183-e185. doi: 10.1016/j.athoracsur.2018.07.060. Epub 2018 Sep 25.
5
Molecular genetic characterization of myeloid/lymphoid neoplasms associated with eosinophilia and rearrangement of or .与嗜酸性粒细胞增多及PDGFRA、PDGFRB或FGFR1重排相关的髓系/淋系肿瘤的分子遗传学特征
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