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Updated: May 14, 2026

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Published on: February 28, 2019

Sinonasal desmoplastic small round cell tumor.

Fernando López¹, María Costales, Blanca Vivanco

¹Department of Otolaryngology, Hospital Universitario Central de Asturias, Instituto Universitario de Oncología del Principado de Asturias, Oviedo, Asturias, Spain. flopez_1981@yahoo.es

Auris, Nasus, Larynx

|February 21, 2013

Summary

Desmoplastic small round cell tumor (DSRCT) is a rare cancer. This case highlights DSRCT as a potential diagnosis for sinonasal tumors, emphasizing the need for specific diagnostic tests.

Keywords:

Desmoplastic small round cell tumor EWS/WT1 gene fusion Immunohistochemistry Molecular analysis Sinonasal tumor

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Area of Science:

Oncology
Pathology
Genetics

Background:

Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive cancer, typically affecting the peritoneum.
Extra-abdominal DSRCT is exceptionally uncommon, posing diagnostic challenges.

Observation:

A case report of a 61-year-old male presenting with a primary sinonasal tumor.

Findings:

The diagnosis of DSRCT was confirmed through immunohistochemistry, revealing a polyphenotypic immunoprofile (cytokeratin, desmin, neuron-specific enolase positive).
Characteristic EWS-WT1 gene fusion, resulting from t(11;22)(p13;q12) translocation, further supported the DSRCT diagnosis.

Implications:

This case underscores the importance of considering DSRCT in the differential diagnosis of sinonasal tumors.
Highlights the utility of immunohistochemistry and cytogenetic studies in diagnosing rare DSRCT presentations.