Molecular features in a biphenotypic small cell sarcoma with neuroectodermal and muscle differentiation
de Alava E, Lozano MD [SP], Sola I, Panizo A, Idoate MA [SP], Martínez-Isla C, Forteza J, Sierrasesúmaga L, Pardo-Mindán FJ [SP].
Department of Pathology, Clínica Universitaria de Navarra, Pamplona, Spain
Magazine: Human Pathology
Date: Feb 1, 1998Pediatrics [SP] Pathological Anatomy [SP]
We report a case of a 13-year-old girl with soft tissue sarcoma of the hand, which showed muscle and neuroectodermal immunophenotypes. Molecular studies were performed on RNA collected from fine-needle aspiration (FNA) cytology and peripheral blood samples by nested reverse transcriptase-polymerase chain reaction (RT-PCR) and Southern blot analysis.
This biphenotypic tumor showed simultaneous expression of EWS-FLI1 and PAX3-FKHR transcripts, specific of Ewing family tumors and alveolar rhabdomyosarcoma, respectively. Although childhood sarcomas with simultaneous muscle and neural differentiation have been described to have EWS-FLI1 transcripts, there are no reports of tumors with both transcripts.
Cytological specimens are a good source of RNA for molecular studies.
CITATION Hum Pathol. 1998 Feb;29(2):181-4
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