A t (11; 22) (p13; q12) EWS-WT 1 positive desmoplastic small round cell tumor of the maxilla

Journal of Postgraduate Medicine - Tập 56 Số 3 - Trang 201-205 - 2010
Bharat Rekhi1, Ranjan Basak2, Sangeeta Desai2,3, Nirmala A. Jambhekar1
1Department of Pathology, Tata Memorial Center, Dr. E.B. Road, Parel, Mumbai, India
2Department of Molecular Pathology Advanced Center for Treatment, Research and Education in Cancer, Kharghar, Navi Mumbai, India
3Department of Pathology, Tata Memorial Center, Dr. E.B. Road, Parel, Mumbai

Tóm tắt

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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Tài liệu tham khảo

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Journal of Postgraduate Medicine

Tập 56 Số 3

201-205

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