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

Autor:	Gershon A; Medical Genetics and Genomics, University of Toronto, Toronto, ON, Canada., Nagy A; Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, ON, Canada., Somers GR; Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, ON, Canada., Yoo SJ; Department of Diagnostic Imaging, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical imaging, University of Toronto, ON, Canada.; Department of Paediatrics, University of Toronto, ON, Canada., Shaikh F; Department of Paediatrics, University of Toronto, ON, Canada.; Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada., Honjo O; Division of Cardiovascular Surgery, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Surgery, University of Toronto, ON, Canada., Siddaway R; Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada., Chen H; Division of Pathology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Laboratory Medicine and Pathobiology, University of Toronto, ON, Canada.
Jazyk:	angličtina
Zdroj:	Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2024 Jul-Aug; Vol. 27 (4), pp. 335-339. Date of Electronic Publication: 2024 Feb 24.
DOI:	10.1177/10935266231221903
Abstrakt:	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. Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu