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Updated: Jul 6, 2026
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.
Abstract:
Olfactory neuroblastoma is an unusual neuroectodermal malignancy, which is thought to arise at the olfactory membrane of the sinonasal tract. Due to its rarity, little is understood regarding its molecular and cytogenetic abnormalities. The aim of the current study is to identify specific DNA copy number changes in olfactory neuroblastoma. Thirteen dissected tissue samples were analyzed using array comparative genomic hybridization. Our results show that gene copy number profiles of olfactory neuroblastoma samples are complex. The most frequent changes included gains at 7q11.22-q21.11, 9p13.3, 13q, 20p/q, and Xp/q, and losses at 2q31.1, 2q33.3, 2q37.1, 6q16.3, 6q21.33, 6q22.1, 22q11.23, 22q12.1, and Xp/q. Gains were more frequent than losses, and high-stage tumors showed more alterations than low-stage olfactory neuroblastoma. Frequent changes in high-stage tumors were gains at 13q14.2-q14.3, 13q31.1, and 20q11.21-q11.23, and loss of Xp21.1 (in 66% of cases). Gains at 5q35, 13q, and 20q, and losses at 2q31.1, 2q33.3, and 6q16-q22, were present in 50% of cases. The identified regions of gene copy number change have been implicated in a variety of tumors, especially carcinomas. In addition, our results indicate that gains in 20q and 13q may be important in the progression of this cancer, and that these regions possibly harbor genes with functional relevance in olfactory neuroblastoma.
Insights
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.
