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Nat Commun. 2018 Dec 21;9(1):5410. doi: 10.1038/s41467-018-07578-z.

Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma.

Author information

1
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. ggallia1@jhmi.edu.
2
Department of Otolaryngology - Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. ggallia1@jhmi.edu.
3
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. ggallia1@jhmi.edu.
4
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, 21287, USA.
5
Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
6
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
7
Department of Neurosurgery, University of Pennsylvania, Philadelphia, PA, 19104, USA.
8
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.
9
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
10
Department of Otolaryngology - Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
11
Department of Anesthesiology, Perioperative and Pain Medicine, Stanford University School of Medicine, Palo Alto, CA, 94305, USA.
12
Department of Pathology, University of Maryland School of Medicine, Baltimore, MD, 21201, USA.
13
Department of Surgery, Division of Otolaryngology and Head and Neck Surgery, University of Chicago, Chicago, IL, 60637, USA.
14
Howard Hughes Medical Institutes, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA.
15
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, 21287, USA. npapado1@jhmi.edu.
16
Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. cbetteg1@jhmi.edu.
17
Department of Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. cbetteg1@jhmi.edu.
18
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, 21287, USA. cbetteg1@jhmi.edu.
19
Department of Radiation Oncology, Johns Hopkins University School of Medicine, Baltimore, MD, 21287, USA. cbetteg1@jhmi.edu.

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.

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