Ud Din Nasir, Pekmezci Melike, Javed Gohar, Horvai Andrew E, Ahmad Zubair, Faheem Muhammad, Navarro Anthony L, López-Terrada Dolores, Perry Arie
Department of Pathology and Microbiology, Section of Histopathology, Aga Khan University Hospital, Karachi Pakistan.
Department of Pathology, University of California San Francisco (UCSF), San Francisco, CA, 94143.
Hum Pathol. 2015 Jan;46(1):153-8. doi: 10.1016/j.humpath.2014.09.015. Epub 2014 Oct 18.
We report a case of a longstanding, large tumor involving spinal nerve roots of the cauda equina. The tumor showed small round cells arranged in nests and cords and immunophenotypic features of a glomus tumor, along with infrequent mitoses and a low Ki-67 labeling index, but exhibited some rosette-like structures, with focal CD99 and Neu-N expression. Subsequent molecular analysis showed the presence of an EWSR1-WT1 gene fusion by fluorescence in situ hybridization, which was confirmed by reverse- transcriptase polymerase chain reaction. To our knowledge, this is the first case reported with EWSR1-WT1 fusion in a small round blue cell tumor with smooth muscle differentiation and an indolent course.