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 Avery 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; Chetan Bettegowda

doi:10.1038/s41467-018-07578-z

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 Avery 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. MeekerNishant Agrawal, Bert Vogelstein, Kenneth W. Kinzler, Nickolas Papadopoulos, Chetan Bettegowda

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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.

Original language	English (US)
Article number	5410
Journal	Nature communications
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41467-018-07578-z
State	Published - Dec 1 2018

ASJC Scopus subject areas

Chemistry(all)
Biochemistry, Genetics and Molecular Biology(all)
Physics and Astronomy(all)

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Gallia, G. L., Zhang, M., Ning, Y., Haffner, M. C., Batista, D., Binder, Z. A., Bishop, J. A., Hann, C. L., Hruban, R. H., Ishii, M., Klein, A. P., Reh, D. D., Rooper, L. M., Salmasi, V., Tamargo, R. J., Wang, Q., Williamson, T., Zhao, T., Zou, Y., ... Bettegowda, C. (2018). Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma. Nature communications, 9(1), [5410]. https://doi.org/10.1038/s41467-018-07578-z

Gallia, GL, Zhang, M, Ning, Y, Haffner, MC, Batista, D, Binder, ZA, Bishop, JA, Hann, CL, Hruban, RH, Ishii, M, Klein, AP, Reh, DD, Rooper, LM, Salmasi, V, Tamargo, RJ, Wang, Q, Williamson, T, Zhao, T, Zou, Y, Meeker, AK, Agrawal, N, Vogelstein, B, Kinzler, KW, Papadopoulos, N & Bettegowda, C 2018, 'Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma', Nature communications, vol. 9, no. 1, 5410. https://doi.org/10.1038/s41467-018-07578-z

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title = "Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma",

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.",

author = "Gallia, {Gary L.} and Ming Zhang and Yi Ning and Haffner, {Michael C.} and Denise Batista and Binder, {Zev A.} and Bishop, {Justin Avery} and Hann, {Christine L.} and Hruban, {Ralph H.} and Masaru Ishii and Klein, {Alison P.} and Reh, {Douglas D.} and Rooper, {Lisa M.} and Vafi Salmasi and Tamargo, {Rafael J.} and Qing Wang and Tara Williamson and Tianna Zhao and Ying Zou and Meeker, {Alan K.} and Nishant Agrawal and Bert Vogelstein and Kinzler, {Kenneth W.} and Nickolas Papadopoulos and Chetan Bettegowda",

note = "Funding Information: We thank our patients for their courage and generosity. The research was supported by the Virginia and D.K. Ludwig Fund for Cancer Reserach, the Sol Goldman Sequencing Facility at Johns Hopkins, the Johns Hopkins Clinician Scientist Award, the Burroughs Wellcome Career Award for Medical Scientists, the Doris Duke Charitable Foundation (2014107), the Department of Neurosurgery, and SPORE grant P50 CA062924. We thank past and present members of the Skull Base and Brain Tumor Laboratories and the Department of Neurosurgery at Johns Hopkins Hospital. Publisher Copyright: {\textcopyright} 2018, The Author(s).",

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doi = "10.1038/s41467-018-07578-z",

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AU - Gallia, Gary L.

AU - Zhang, Ming

AU - Ning, Yi

AU - Haffner, Michael C.

AU - Batista, Denise

AU - Binder, Zev A.

AU - Bishop, Justin Avery

AU - Hann, Christine L.

AU - Hruban, Ralph H.

AU - Ishii, Masaru

AU - Klein, Alison P.

AU - Reh, Douglas D.

AU - Rooper, Lisa M.

AU - Salmasi, Vafi

AU - Tamargo, Rafael J.

AU - Wang, Qing

AU - Williamson, Tara

AU - Zhao, Tianna

AU - Zou, Ying

AU - Meeker, Alan K.

AU - Agrawal, Nishant

AU - Vogelstein, Bert

AU - Kinzler, Kenneth W.

AU - Papadopoulos, Nickolas

AU - Bettegowda, Chetan

N1 - Funding Information: We thank our patients for their courage and generosity. The research was supported by the Virginia and D.K. Ludwig Fund for Cancer Reserach, the Sol Goldman Sequencing Facility at Johns Hopkins, the Johns Hopkins Clinician Scientist Award, the Burroughs Wellcome Career Award for Medical Scientists, the Doris Duke Charitable Foundation (2014107), the Department of Neurosurgery, and SPORE grant P50 CA062924. We thank past and present members of the Skull Base and Brain Tumor Laboratories and the Department of Neurosurgery at Johns Hopkins Hospital. Publisher Copyright: © 2018, The Author(s).

PY - 2018/12/1

Y1 - 2018/12/1

N2 - 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.

AB - 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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Genomic analysis identifies frequent deletions of Dystrophin in olfactory neuroblastoma

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