A case of angiosarcoma in siblings

DOI
  • Katsube Yosuke
    Department of Genetic Counseling, Hoshi General Hospital Clinic of Hereditary Cancer, Hoshi General Hospital
  • Saji Shigehira
    Department of Medical Oncology, School of Medicine, Fukushima Medical University
  • Okano Maiko
    Department of Surgery, Hoshi General Hospital Department of Breast Surgery, School of Medicine, Fukushima Medical University
  • Ishino Atsushi
    Department of Gastroenterology, Hoshi General Hospital
  • Takahashi Shoichi
    Department of Cardiovascular Surgery, Hoshi General Hospital
  • Gotoh Masahiro
    Department of Clinical Genomics, National Cancer Center Research Institute
  • Ushiama Mineko
    Department of Clinical Genomics, National Cancer Center Research Institute
  • Sugano Kokichi
    Department of Genetic Medicine, Sasaki Foundation, Kyoundo Hospital
  • Yoshida Teruhiko
    Department of Genetic Medicine and Service, National Cancer Center Hospital
  • Nomizu Tadashi
    Clinic of Hereditary Cancer, Hoshi General Hospital Department of Surgery, Hoshi General Hospital

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Other Title
  • 血管肉腫の同胞発症がみられた1家系

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Abstract

<p>　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.</p>

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