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Pathol Int ; 72(9): 457-463, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-35801418

RESUMEN

Angiosarcoma is a rare malignant tumor derived from vascular endothelial cells and has a poor prognosis. We have experienced a case of multiple breast angiosarcoma for which multiple resections had been performed during the course of its progression over a period of more than 15 years, allowing comprehensive genetic mutation analysis. Somatic mutations in several cancer-related genes were detected, but no previously reported driver gene mutations of angiosarcoma were evident. Several germline mutations associated with malignancy, such as single nucleotide polymorphisms in Fibroblast Growth Factor Receptor 4 (FGFR4) (p.Gly388Arg, rs351855), Kinase Insert Domain Receptor (KDR) (Gln472His, rs1870377) and tumor protein p53 (TP53) (p.Pro72Arg, rs1042522) were detected. Common signatures and genetic mutations were scarce in the tumor samples subjected to genetic mutational analysis. These findings suggested that this case was very probably a multiprimary angiosarcoma.


Asunto(s)
Hemangiosarcoma , Neoplasias de la Mama , Células Endoteliales/patología , Hemangiosarcoma/genética , Hemangiosarcoma/patología , Humanos , Mutación , Receptor Tipo 4 de Factor de Crecimiento de Fibroblastos/genética , Proteína p53 Supresora de Tumor/genética , Receptor 2 de Factores de Crecimiento Endotelial Vascular/genética
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