Open AccessUpregulation of NKX2.2, a target of EWSR1/FLI1 fusion transcript, in primary renal Ewing sarcoma
Author(s) -
Yuroku Yamamoto,
Kazuto Yamazaki,
Yasuo Ishida
Publication year - 2015
Publication title -
journal of cytology/journal of cytology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.267
H-Index - 19
eISSN - 0974-5165
pISSN - 0970-9371
DOI - 10.4103/0970-9371.155229
Subject(s) - cd99 , fli1 , chromosomal translocation , sarcoma , fusion transcript , fusion gene , pathology , primitive neuroectodermal tumor , medicine , downregulation and upregulation , cancer research , desmoplastic small round cell tumor , breakpoint , biology , gene , immunohistochemistry , genetics , vimentin
Renal Ewing sarcoma (ES) is a rare malignant tumor characterized by fusion of the EWSR1 gene with a member of the ETS family of oncogenes, arising at a specific chromosomal translocation. Diagnosis of ES can be problematic, especially from cytological or small bioptical specimens because the differential diagnoses comprising a diverse group of small round blue cell tumors (SRBCTs). We report a case of primary renal ES in a young male, which had a t(11;22) (q24;q12) chromosome translocation encoding a type2 EWSR1/FLI1 fusion transcript. The tumor cells showed diffuse cytoplasmic immunoreactivity for CD99 and diffuse nuclear immunoreactivity for NKX2.2, an important oncogenic transcriptional target of EWSR1/FLI1, not only in the histological, but also in the cytological specimens. From the results of this case, we speculate that NKX2.2, in combination with CD99, may be a useful immunocytochemical marker to distinguish renal ES from other SRBCTs of kidney.