Molecular features in a biphenotypic small cell sarcoma with neuroectodermal and muscle differentiation.
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.
de Alava
E
E
Department of Pathology, Clínica Universitaria de Navarra, Pamplona, Spain.
Lozano
M D
MD
Sola
I
I
Panizo
A
A
Idoate
M A
MA
Martínez-Isla
C
C
Forteza
J
J
Sierrasesúmaga
L
L
Pardo-Mindán
F J
FJ
D000293:Adolescent; D014408:Biomarkers, Tumor / Q000032:analysis; D015139:Blotting, Southern; D002678:Chimera / Q000235:genetics; D005260:Female; D006225:Hand; D006801:Humans; D007150:Immunohistochemistry; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D008279:Magnetic Resonance Imaging; D019042:Muscle Neoplasms / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D018482:Muscle, Skeletal / Q000276:immunology / Q000473:pathology; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics / Q000276:immunology / Q000473:pathology*; D016133:Polymerase Chain Reaction; D012334:RNA, Neoplasm / Q000032:analysis; D018228:Sarcoma, Small Cell / Q000235:genetics / Q000276:immunology / Q000473:pathology*
D014408:Biomarkers, Tumor; D012334:RNA, Neoplasm