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Clear Cell Sarcoma of Soft Tissue with Cytogenetic and Molecular Analyses
Author(s) -
Vejabhuti C.,
Dishop M.K.,
Hicks J.,
Naeem R.,
Reed J.A.,
LopezTerrada D.H.
Publication year - 2006
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.0303-6987.2006.0511k.x
Subject(s) - fluorescence in situ hybridization , pathology , chromosomal translocation , biology , clear cell sarcoma , fusion transcript , sarcoma , biopsy , karyotype , cytogenetics , medicine , chromosome , genetics , gene
A 7‐year‐old girl presented with pain and progressive swelling on the left plantar surface. Biopsy of a 2.5 cm mass demonstrated nests of large oval tumor cells with high nuclear‐to‐cytoplasm ratio, amphophilic to clear cytoplasm, prominent nucleoli, and brisk mitotic activity. Occasional cells showed spindled morphology. Infrequent melanin pigment was present. Melanocytic markers (HMB45, S‐100) were diffusely positive. A diagnosis of clear cell sarcoma of soft tissue (CCSS) was made, and the tumor was re‐excision with negative margins. 28 months later, a 1.0 cm pulmonary nodule was identified and showed CCSS. Cytogenetics demonstrated a complex karyotype (unbalanced translocation der(12;14)(p10;q10), additional chromosome 22 material of unknown origin). Although the CCSS translocation t(12;22)(q13;q12) was not identified, EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH). RT‐PCR demonstrated an EWS‐ATF1 fusion transcript, confirmed by direct sequencing. CCSS requires differentiation from malignant melanoma, due to overlapping clinical presentations, sites of involvement, histomorphology, immunocytochemical profiles, and ultrastructure. In many circumstances, definitive diagnosis is only possible with confirmation of the CCSS tumor‐defining translocation.