Gastrointestinal melanoma or clear cell sarcoma? Molecular evaluation of 7 cases previously diagnosed as malignant melanoma.

作者: Pamela L. Lyle , Carol M. Amato , James E. Fitzpatrick , William A. Robinson

DOI: 10.1097/PAS.0B013E31815B8288

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摘要: Clear cell sarcoma (CCS) is a rare tumor classically associated with the tendons and aponeuroses of distal extremities young adults. CCS malignant melanoma (MM) share immunohistochemical profiles ultrastructural features, but classic has characteristic morphology low mitotic activity minimal pleomorphism. Occasional cases show pleomorphism, high index, and/or melanin pigmentation, making indistinguishable from MM based on morphology. However, genetically distinct owing to its consistent association t(12;22)(q13;q12) chromosomal translocation, leading formation EWS/ATF1 fusion transcript. This translocation never been documented in cutaneous melanoma, thus regarded as specific for CCS. Recent evidence suggests that primary "malignant melanomas" unusual anatomic sites, most notably gastrointestinal (GI) tract, may be supported by 11 GI t(12;22) translocation. We used reverse-transcription polymerase chain reaction fluorescence situ hybridization examine whether proportion diagnosed tract patients without history actually represent In total, we examined 7 cases: Four no prior MM, 2 histories 1 an anal MM. All 4 which there was cutaneous/mucosal harbored report largest series have shown molecular studies warranted otherwise seem locations.

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