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

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 comp...

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Bibliographic Details
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
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Summary: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.
ISSN:1320-5463
1440-1827
DOI:10.1111/pin.13257