A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report-Reference-Cited by-同舟云学术

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

Published:2024-02-24 Issue:4 Volume:27 Page:335-339
ISSN:1093-5266
Container-title:Pediatric and Developmental Pathology
language:en
Short-container-title:Pediatr Dev Pathol

Author:

Gershon Ariel¹^ORCID,Nagy Anita²³,Somers Gino R.²³^ORCID,Yoo Shi-Joon⁴⁵⁶,Shaikh Furqan⁶⁷,Honjo Osami⁸⁹,Siddaway Robert²^ORCID,Chen Haiying²³^ORCID

Affiliation:

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

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

3. Department of Laboratory Medicine and Pathobiology, University of Toronto, ON, Canada

4. Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada

5. Department of Medical imaging, University of Toronto, ON, Canada

6. Department of Paediatrics, University of Toronto, ON, Canada

7. Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada

8. Division of Cardiovascular Surgery, The Hospital for Sick Children, Toronto, ON, Canada

9. Department of Surgery, University of Toronto, ON, Canada

Abstract

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.

Publisher

SAGE Publications

Link

https://journals.sagepub.com/doi/pdf/10.1177/10935266231221903

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