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Adult cutaneous alveolar rhabdomyosarcoma on the face diagnosed by the expression of PAX3‐FKHR gene fusion transcripts
Author(s) -
NAKAGAWA Noboru,
TSUDA Tatsuya,
YAMAMOTO Mika,
ITO Takaaki,
FUTANI Hiroshi,
YAMANISHI Kiyofumi
Publication year - 2008
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/j.1346-8138.2008.00503.x
Subject(s) - alveolar rhabdomyosarcoma , pax3 , rhabdomyosarcoma , fusion gene , carboplatin , pathology , medicine , ifosfamide , immunohistochemistry , desmin , vimentin , chemotherapy , sarcoma , biology , etoposide , gene , cisplatin , biochemistry , transcription factor
A 26‐year‐old woman presented with an indurated subcutaneous tumor on her left cheek. The histology was compatible with alveolar rhabdomyosarcoma, but immunohistochemistry showed that the tumor cells were negative for desmin, α‐smooth muscle actin and α‐Sr‐1, but were positive for CD56, vimentin and myogenin. The diagnosis of alveolar rhabdomyosarcoma was confirmed by the detection of PAX3‐FKHR fusion gene transcripts in the paraffin‐embedded tumor tissue. The tumor was unresponsive to chemotherapy with pirarubicin, carboplatin and ifosfamide, and the patient died 9 months after the diagnosis. This adult case of an alveolar rhabdomyosarcoma primarily occurring on the face is very rare, and the detection of PAX3‐FKHR fusion gene transcripts was useful for diagnosis of the disease.