Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes...

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Main Authors:	Fresia Pareja, Alissa H. Brandes, Thais Basili, Pier Selenica, Felipe C. Geyer, Dan Fan, Arnaud Da Cruz Paula, Rahul Kumar, David N. Brown, Rodrigo Gularte-Mérida, Barbara Alemar, Rui Bi, Raymond S. Lim, Ino de Bruijn, Sho Fujisawa, Rui Gardner, Elvin Feng, Anqi Li, Edaise M. da Silva, John R. Lozada, Pedro Blecua, Leona Cohen-Gould, Achim A. Jungbluth, Emad A. Rakha, Ian O. Ellis, Maria I. A. Edelweiss, Juan Palazzo, Larry Norton, Travis Hollmann, Marcia Edelweiss, Brian P. Rubin, Britta Weigelt, Jorge S. Reis-Filho
Format:	Article
Language:	English
Published:	Nature Publishing Group 2018-08-01
Series:	Nature Communications
Online Access:	https://doi.org/10.1038/s41467-018-05886-y

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spelling	doaj-009968388daa46a8b838d3017e34238c2021-05-11T10:01:16ZengNature Publishing GroupNature Communications2041-17232018-08-019111310.1038/s41467-018-05886-yLoss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumorsFresia Pareja0Alissa H. Brandes1Thais Basili2Pier Selenica3Felipe C. Geyer4Dan Fan5Arnaud Da Cruz Paula6Rahul Kumar7David N. Brown8Rodrigo Gularte-Mérida9Barbara Alemar10Rui Bi11Raymond S. Lim12Ino de Bruijn13Sho Fujisawa14Rui Gardner15Elvin Feng16Anqi Li17Edaise M. da Silva18John R. Lozada19Pedro Blecua20Leona Cohen-Gould21Achim A. Jungbluth22Emad A. Rakha23Ian O. Ellis24Maria I. A. Edelweiss25Juan Palazzo26Larry Norton27Travis Hollmann28Marcia Edelweiss29Brian P. Rubin30Britta Weigelt31Jorge S. Reis-Filho32Department of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterMolecular Cytology Core Facility, Memorial Sloan Kettering Cancer CenterFlow Cytometry Core Facility, Memorial Sloan Kettering Cancer CenterMolecular Cytology Core Facility, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Radiation Oncology, Memorial Sloan Kettering Cancer CenterDepartment of Biochemistry, Weill Cornell Medical CollegeDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, University of NottinghamDepartment of Pathology, University of NottinghamHospital de Clínicas, Federal University of Rio Grande do SulDepartment of Pathology, Jefferson Medical CollegeDepartment of Medicine, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartments of Pathology and Cancer Biology, Robert J. Tomsich Pathology and Laboratory Medicine Institute and The Lerner Research Institute, Cleveland ClinicDepartment of Pathology, Memorial Sloan Kettering Cancer CenterDepartment of Pathology, Memorial Sloan Kettering Cancer CenterGranular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.https://doi.org/10.1038/s41467-018-05886-y
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho
spellingShingle	Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors Nature Communications
author_facet	Fresia Pareja Alissa H. Brandes Thais Basili Pier Selenica Felipe C. Geyer Dan Fan Arnaud Da Cruz Paula Rahul Kumar David N. Brown Rodrigo Gularte-Mérida Barbara Alemar Rui Bi Raymond S. Lim Ino de Bruijn Sho Fujisawa Rui Gardner Elvin Feng Anqi Li Edaise M. da Silva John R. Lozada Pedro Blecua Leona Cohen-Gould Achim A. Jungbluth Emad A. Rakha Ian O. Ellis Maria I. A. Edelweiss Juan Palazzo Larry Norton Travis Hollmann Marcia Edelweiss Brian P. Rubin Britta Weigelt Jorge S. Reis-Filho
author_sort	Fresia Pareja
title	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_short	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_full	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_fullStr	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_full_unstemmed	Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
title_sort	loss-of-function mutations in atp6ap1 and atp6ap2 in granular cell tumors
publisher	Nature Publishing Group
series	Nature Communications
issn	2041-1723
publishDate	2018-08-01
description	Granular cell tumors (GCTs) are rare tumors that arise in multiple anatomical locations. Here, the authors investigate the genomics of GCTs, finding inactivating somatic mutations in ATP6AP1 or ATP6AP2 in 72% of the 82 GCTs analyzed. In vitro manipulation of these genes recapitulated GCT phenotypes in cellular models.
url	https://doi.org/10.1038/s41467-018-05886-y
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Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors

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