A case of massive dermatofibrosarcoma protuberans with multiple breakpoints of a <i>COL1A1－PDGFB</i> fusion gene

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  • HARUKI Ayami
    Department of Dermatology, Kitasato University School of Medicine
  • MASUZAWA Mamiko
    Department of Dermatology, Kitasato University School of Medicine
  • HAMADA Yuko
    Department of Dermatology, Kitasato University School of Medicine
  • MII Sumiyuki
    Department of Dermatology, Kitasato University School of Medicine
  • IWAKAWA Saori
    Department of Plastic Surgery and Cosmetic Surgery, Kitasato University School of Medicine
  • KASHIWAGI Shinya
    Department of Plastic Surgery and Cosmetic Surgery, Kitasato University School of Medicine
  • AMOH Yasuyuki
    Department of Dermatology, Kitasato University School of Medicine

Bibliographic Information

Other Title
  • 複数の融合点をもつ<i>COL1A1－PDGFB</i>融合遺伝子が検出された巨大な隆起性皮膚線維肉腫の1例

Abstract

<p>A 68－year－old male had a massive tumor on his left buttock that presented as a 17×15×7.5 cm elastic hard, pedunculated lesion. The tumor surface was necrotic with ulceration. Histopathological examination showed spindle tumor cells diffusely proliferated, with a storiform pattern, in the dermis and subcutaneous tissue. The tumor cells were CD34－positive on immunohistochemical staining. The lesion was diagnosed as dermatofibrosarcoma protuberans. A section of the lesion showed a herringbone pattern ; however, the tumor cells were CD34－positive and the mitotic activity was very low. There was no evidence of fibrosarcomatous changes. Using RT－PCR gene expression analysis, a COL1A1－PDGFB fusion gene was detected in paraffin－embedded sections from the biopsy specimen. The DNA sequences showed three different breakpoints in exons 26, 31, and 43 of COL1A1 and in exon2 of PDGFB.[Skin Cancer (Japan) 2019 ; 34 : 238－242]</p>

Journal

  • Skin Cancer

    Skin Cancer 34 (3), 238-242, 2019

    The Japanese Skin Cancer Society

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