Journal of Hereditary Tumors
Online ISSN : 2435-6808
Case report
A case of angiosarcoma in siblings
Yosuke KatsubeShigehira SajiMaiko OkanoAtsushi IshinoShoichi TakahashiMasahiro GotohMineko UshiamaKokichi SuganoTeruhiko YoshidaTadashi Nomizu
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JOURNAL OPEN ACCESS

2023 Volume 22 Issue 4 Pages 106-111

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Abstract

 Angiosarcoma is one of the rare cancers and occurs mainly in the skin, soft tissue, breast, bone, liver, and spleen in adult, and partly in the great vessel and aorta. There are some reports of familial angiosarcoma, but none in Japan regarding familial or hereditary angiosarcoma. We experienced a case of angiosarcoma in siblings. The proband is a woman in her 40s. She was diagnosed with cardiac angiosarcoma at the age of 40. During her treatment, her brother was diagnosed with angiosarcoma in the liver at the age of 50. Some reports suggested that germline pathogenic variants of the POT1 gene are involved in the development of angiosarcoma. We report our case including the contents of genetic testing and literature review.

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© 2023 The Japanese Society for Hereditary Tumors
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