Reverse transcriptase-polymerase chain reaction as an ancillary molecular technique in the diagnosis of small blue round cell tumors by fine-needle aspiration cytology.
We evaluated the feasibility and usefulness of reverse transcriptase-polymerase chain reaction (RT-PCR) on fine-needle aspirates for categorization of small blue round cell tumors (SBRCTs). A total of 51 cases, including 25 Ewing sarcoma/peripheral primitive neuroectodermal tumors (PNETs), 11 rhabdomyosarcomas, 13 neuroblastomas, and 2 desmoplastic small round cell tumors (DSRCTs) were analyzed. The detection of the EWS-FLI1 (20/25) and EWS-ERG (4/25) fusion transcripts resolved 24 of 25 cases of Ewing sarcoma/PNET. The PAX3/7-FKHR fusion transcript was detected in 2 of 4 cases of alveolar rhabdomyosarcoma and the EWS-WT1 transcript in both cases of DSRCT. Tyrosine hydroxylase and 3,4-dihydroxyphenylalanine (dopa) decarboxylase transcripts were demonstrated in 10 of 13 cases of neuroblastoma. In comparison, immunocytochemical analysis resolved 19 (76%) of 25 Ewing sarcomas, 9 (82%) of 11 rhabdomyosarcomas, 6 (46%) of 13 neuroblastomas, and 1 (50%) of 2 DSRCTs. Overall, RT-PCR resolved 38 (86%) of 44 vs 35 (69%) of 51 cases by immunocytochemical analysis. RT-PCR is easily applied to fine-needle aspirates of SBRCT and greatly facilitates accurate tumor typing.
Dept of Cytology and Gynecological Pathology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Upasana
U
Gautam
Radhika
R
Srinivasan
Arvind
A
Rajwanshi
Deepak
D
Bansal
Ram Kumar
RK
Marwaha
Rakesh Kumar
RK
Vasishtha
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D044963:Biopsy, Fine-Needle / Q000379:methods*; D006801:Humans; D009447:Neuroblastoma / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D012208:Rhabdomyosarcoma / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D012512:Sarcoma, Ewing / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D018228:Sarcoma, Small Cell / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D012983:Soft Tissue Neoplasms / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics