Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma

Gary L. Gallia (), Ming Zhang, Yi Ning, Michael C. Haffner, Denise Batista, Zev A. Binder, Justin A. Bishop, Christine L. Hann, Ralph H. Hruban, Masaru Ishii, Alison P. Klein, Douglas D. Reh, Lisa M. Rooper, Vafi Salmasi, Rafael J. Tamargo, Qing Wang, Tara Williamson, Tianna Zhao, Ying Zou, Alan K. Meeker, Nishant Agrawal, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos () and Chetan Bettegowda ()
Additional contact information
Gary L. Gallia: Johns Hopkins University School of Medicine
Ming Zhang: Johns Hopkins University School of Medicine
Yi Ning: Johns Hopkins University School of Medicine
Michael C. Haffner: Johns Hopkins University School of Medicine
Denise Batista: Johns Hopkins University School of Medicine
Zev A. Binder: Johns Hopkins University School of Medicine
Justin A. Bishop: Johns Hopkins University School of Medicine
Christine L. Hann: Johns Hopkins University School of Medicine
Ralph H. Hruban: Johns Hopkins University School of Medicine
Masaru Ishii: Johns Hopkins University School of Medicine
Alison P. Klein: Johns Hopkins University School of Medicine
Douglas D. Reh: Johns Hopkins University School of Medicine
Lisa M. Rooper: Johns Hopkins University School of Medicine
Vafi Salmasi: Johns Hopkins University School of Medicine
Rafael J. Tamargo: Johns Hopkins University School of Medicine
Qing Wang: Johns Hopkins University School of Medicine
Tara Williamson: Johns Hopkins University School of Medicine
Tianna Zhao: Johns Hopkins University School of Medicine
Ying Zou: University of Maryland School of Medicine
Alan K. Meeker: Johns Hopkins University School of Medicine
Nishant Agrawal: Johns Hopkins University School of Medicine
Bert Vogelstein: Johns Hopkins University School of Medicine
Kenneth W. Kinzler: Johns Hopkins University School of Medicine
Nickolas Papadopoulos: Johns Hopkins University School of Medicine
Chetan Bettegowda: Johns Hopkins University School of Medicine

Nature Communications, 2018, vol. 9, issue 1, 1-6

Abstract: 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.

Date: 2018
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DOI: 10.1038/s41467-018-07578-z

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