Penile pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma with a novel pattern of SERPINE1-FOSB fusion detected by RT-PCR--report of a case.
We experienced a rare case of penile mesenchymal tumor in a 43-year-old Japanese man. At least three nodules were observed around the penis. The tumors were composed of spindle- to oval-shaped atypical cells with and without prominent nucleoli. These cells were like myogenic cells, but negative for myogenic markers. They were positive for endothelial markers, such as ERG, Fli1 and CD31. They were also positive for nuclear and cytoplasmic FOSB which are not expressed in epithelioid hemangioendothelioma or epithelioid sarcoma. These pathological and immunohistochemical findings strongly suggested pseudomyogenic hemangioendothelioma/epithelioid sarcoma-like hemangioendothelioma (PHE/ES-HE). Since a recent report directly proved that two cases of PHE/ES-HE have SERPINE1-FOSB fusion gene by reverse transcription-polymerase chain reaction (RT-PCR), we examined whether the fusion gene is present or not in the present case by RT-PCR using fresh frozen surgical material. Sequencing of the PCR product revealed that this case has SERPINE1-FOSB fusion. The fusion pattern of our case was different from those of two previously reported cases. In our case, 86 nucleotides of SERPINE1 intron 1 were inserted between SERPINE1 exon 1 and the middle portion of FOSB exon 1, and a putative translation start codon was identified in SERPINE1 intron 1. Thus, this is the third case of PHE/ES-HE with SERPINE1-FOSB fusion proved by RT-PCR.
Department of Surgical Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
Yoshi-Hiro
YH
Ide
Department of Surgical Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan. Electronic address: tsuka-y@hyo-med.ac.jp.
Yoshitane
Y
Tsukamoto
Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
Takaaki
T
Ito
Department of Surgical Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
Takahiro
T
Watanabe
Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
Noboru
N
Nakagawa
Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
Takashi
T
Haneda
Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
Makoto
M
Nagai
Department of Dermatology, Hyogo College of Medicine, Nishinomiya, Japan.
Kiyofumi
K
Yamanishi
Department of Surgical Pathology, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya, Hyogo 663-8501, Japan.
Seiichi
S
Hirota
D000328:Adult; D014408:Biomarkers, Tumor / Q000032:analysis; D006390:Hemangioendothelioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D010412:Penile Neoplasms / Q000235:genetics* / Q000473:pathology; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D016760:Proto-Oncogene Proteins c-fos / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction
D014408:Biomarkers, Tumor; C064269:FOSB protein, human; D015514:Oncogene Proteins, Fusion; D017395:Plasminogen Activator Inhibitor 1; D016760:Proto-Oncogene Proteins c-fos; C051321:SERPINE1 protein, human
FOSB immunohistochemistry; Penis; Pseudomyogenic hemangioendothelioma; SERPINE1-FOSB fusion