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 CASE REPORT
Year : 2010  |  Volume : 56  |  Issue : 3  |  Page : 201-205

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


1 Department of Pathology, Tata Memorial Center, Dr. E.B. Road, Parel, Mumbai, India
2 Department of Molecular Pathology Advanced Center for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, India
3 Department of Pathology, Tata Memorial Center, Dr. E.B. Road, Parel, Mumbai; Department of Molecular Pathology Advanced Center for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, India

Correspondence Address:
B Rekhi
Department of Pathology, Tata Memorial Center, Dr. E.B. Road, Parel, Mumbai
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0022-3859.68628

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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.






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Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow