Mutational landscape of primary breast angiosarcoma with repeated resection and recurrence over a 15‐year period: A case report

• Published in: Pathology international 2022-09, Vol.72 (9), p.457-463
• Main Authors: Teruyama, Fumiya, Kuno, Akihiro, Murata, Yoshihiko, Nakagawa, Tomoki, Shiba‐Ishii, Aya, Yuguchi, Shu, Noguchi, Masayuki
• Format: Article
• Language: English
• Subjects: angiosarcoma; Breast; Case reports; Endothelial cells; Fibroblast growth factor receptor 4; Genetic analysis; germline mutation; Growth factors; Kinases; Malignancy; metastasis; Mutation; mutational signature; Nucleotides; p53 Protein; phylogenetic tree; Receptors; recurrence; Single-nucleotide polymorphism; Tumors; whole exome sequencing
• ISSN: 1320-5463; 1440-1827
• DOI: 10.1111/pin.13257

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.