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15 年间反复切除和复发的原发性乳腺血管肉瘤的突变全景:一例报告。

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

机构信息

Department of Pathology, Faculty of Medicine, University of Tsukuba, Ibaraki, Japan.

Graduate School of Comprehensive Human Sciences, University of Tsukuba, Ibaraki, Japan.

出版信息

Pathol Int. 2022 Sep;72(9):457-463. doi: 10.1111/pin.13257. Epub 2022 Jul 8.

Abstract

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.

摘要

血管肉瘤是一种罕见的恶性肿瘤,来源于血管内皮细胞,预后不良。我们遇到了一例多发乳腺血管肉瘤,在超过 15 年的病程中进行了多次切除,以便进行全面的基因突变分析。检测到几个与癌症相关的基因的体细胞突变,但没有明显的血管肉瘤先前报道的驱动基因突变。还检测到一些与恶性肿瘤相关的种系突变,如成纤维细胞生长因子受体 4(FGFR4)(p.Gly388Arg,rs351855)、激酶插入结构域受体(KDR)(Gln472His,rs1870377)和肿瘤蛋白 p53(TP53)(p.Pro72Arg,rs1042522)中的单核苷酸多态性。进行遗传突变分析的肿瘤样本中常见特征和基因突变很少。这些发现表明,这种情况很可能是多原发性血管肉瘤。

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