Abstract

Olfactory neuroblastoma (ONB) is a rare malignant neoplasm arising in the upper portion of the sinonasal cavity. To better understand the genetic bases for ONB, here we perform whole exome and whole genome sequencing as well as single nucleotide polymorphism array analyses in a series of ONB patient samples. Deletions involving the dystrophin (DMD) locus are found in 12 of 14 (86%) tumors. Interestingly, one of the remaining tumors has a deletion in LAMA2, bringing the number of ONBs with deletions of genes involved in the development of muscular dystrophies to 13 or 93%. This high prevalence implicates an unexpected functional role for genes causing hereditary muscular dystrophies in ONB.

Details

Title
Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma
Author
Gallia, Gary L 1 ; Zhang, Ming 2 ; Yi, Ning 3 ; Haffner, Michael C 3 ; Batista, Denise 3 ; Binder, Zev A 4 ; Bishop, Justin A 5 ; Hann, Christine L 6 ; Hruban, Ralph H 3 ; Ishii, Masaru 7 ; Klein, Alison P 8 ; Reh, Douglas D 7 ; Rooper, Lisa M 3 ; Salmasi, Vafi 9 ; Tamargo, Rafael J 7 ; Wang, Qing 2 ; Williamson, Tara 10 ; Zhao, Tianna 10 ; Zou, Ying 11 ; Meeker, Alan K 3 ; Agrawal, Nishant 12 ; Vogelstein, Bert 13 ; Kinzler, Kenneth W 2 ; Papadopoulos, Nickolas 2 ; Bettegowda, Chetan 14 

 Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Otolaryngology – Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Ludwig Center for Cancer Genetics and Therapeutics, Department of Oncology and Pathology and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Neurosurgery, University of Pennsylvania, Philadelphia, PA, USA 
 Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA 
 Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Otolaryngology – Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
 Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University School of Medicine, Palo Alto, CA, USA 
10  Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
11  Department of Pathology, University of Maryland School of Medicine, Baltimore, MD, USA 
12  Department of Otolaryngology – Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Surgery, Division of Otolaryngology and Head and Neck Surgery, University of Chicago, Chicago, IL, USA 
13  Ludwig Center for Cancer Genetics and Therapeutics, Department of Oncology and Pathology and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Howard Hughes Medical Institutes, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
14  Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Ludwig Center for Cancer Genetics and Therapeutics, Department of Oncology and Pathology and the Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Radiation Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, USA 
Pages
1-6
Publication year
2018
Publication date
Dec 2018
Publisher
Nature Publishing Group
e-ISSN
20411723
Source type
Scholarly Journal
Language of publication
English
ProQuest document ID
2159700876
Copyright
© 2018. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.