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Updated: Jul 6, 2026

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Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Array comparative genomic hybridization analysis of olfactory neuroblastoma.
Mohamed Guled1, Samuel Myllykangas, Henry F Frierson
1Department of Pathology, Haartman Institute and HUSLAB, University of Helsinki and Helsinki University Central Hospital, Helsinki, Finland.
Summary
This study identified specific DNA copy number changes in olfactory neuroblastoma, a rare cancer. Gains in 13q and 20q regions were frequent, especially in advanced stages, suggesting their role in tumor progression.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Olfactory neuroblastoma is a rare neuroectodermal malignancy originating in the sinonasal tract.
- Its rarity limits understanding of its molecular and cytogenetic abnormalities.
- Identifying DNA copy number changes is crucial for understanding tumor development.
Purpose of the Study:
- To identify specific DNA copy number alterations in olfactory neuroblastoma.
- To correlate copy number changes with tumor stage and progression.
Main Methods:
- Analysis of 13 dissected olfactory neuroblastoma tissue samples.
- Utilized array comparative genomic hybridization (aCGH) to detect gene copy number variations.
Main Results:
- Olfactory neuroblastoma samples exhibited complex gene copy number profiles.
- Frequent gains observed at 7q11.22-q21.11, 9p13.3, 13q, 20p/q, and Xp/q.
- Frequent losses observed at 2q31.1, 2q33.3, 6q16.3-q22.1, 22q11.23-q12.1, and Xp/q.
- High-stage tumors showed significantly more alterations than low-stage tumors.
- Specific frequent changes in high-stage tumors included gains at 13q14.2-q14.3, 13q31.1, 20q11.21-q11.23, and loss of Xp21.1.
- Gains in 20q and 13q, and losses in 2q and 6q, were present in 50% of cases.
Conclusions:
- Identified DNA copy number changes in olfactory neuroblastoma, some implicated in other carcinomas.
- Gains in 20q and 13q regions are potentially critical for olfactory neuroblastoma progression.
- These regions may harbor genes functionally relevant to olfactory neuroblastoma development.
