|
Journal of Postgraduate Medicine
Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India
ISSN: 0022-3859 EISSN: 0022-3859
Vol. 56, No. 3, 2010, pp. 201-205
|
Bioline Code: jp10055
Full paper language: English
Document type: Case Report
Document available free of charge
|
|
Journal of Postgraduate Medicine, Vol. 56, No. 3, 2010, pp. 201-205
en |
A t (11; 22) (p13; q12) EWS-WT 1 positive desmoplastic small round cell tumor of the maxilla: An unusual case indicating the role of molecular diagnosis in round cell sarcomas
Rekhi, B.; Basak, R.; Desai, S. B. & Jambhekar, N. A.
Abstract
A desmoplastic small round cell
tumor (DSRCT) is an uncommon tumor characterized by
polyphenotypic expression and a specific reciprocal
translocation t (11; 22) (p13; q12). It has been rarely
identified in the head and neck region. Herein, we
describe a DSRCT in the maxilla of a young man, who
was initially diagnosed with a primitive neuroectodermal
tumor (PNET), based on histopathological appearance of a
round cell tumor, with MIC2 and -FLI-1 positivity, on
immunohistochemistry (IHC). Diagnosis of a DSRCT was
confirmed on molecular analysis with positive
-RT-PCR and sequencing results for EWS-WT1
transcript and negativity for EWS-FL1. The case is
presented to highlight the value of molecular diagnosis
in round cell sarcomas at uncommon sites, especially when
similar IHC markers can be expressed in a PNET and a
DSRCT. An exact diagnosis of a round cell sarcoma has
a therapeutic relevance.
Keywords
Desmoplastic small round cell tumor, head and neck sarcomas, maxillary tumors, molecular diagnosis
|
|
© Copyright 2010 Journal of Postgraduate Medicine. Alternative site location: http://www.jpgmonline.com
|
|