Nature Communications (Aug 2018)
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors
- 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
Affiliations
- Fresia Pareja
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Alissa H. Brandes
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Thais Basili
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Pier Selenica
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Felipe C. Geyer
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Dan Fan
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Arnaud Da Cruz Paula
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Rahul Kumar
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- David N. Brown
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Rodrigo Gularte-Mérida
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Barbara Alemar
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Rui Bi
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Raymond S. Lim
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Ino de Bruijn
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Sho Fujisawa
- Molecular Cytology Core Facility, Memorial Sloan Kettering Cancer Center
- Rui Gardner
- Flow Cytometry Core Facility, Memorial Sloan Kettering Cancer Center
- Elvin Feng
- Molecular Cytology Core Facility, Memorial Sloan Kettering Cancer Center
- Anqi Li
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Edaise M. da Silva
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- John R. Lozada
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Pedro Blecua
- Department of Radiation Oncology, Memorial Sloan Kettering Cancer Center
- Leona Cohen-Gould
- Department of Biochemistry, Weill Cornell Medical College
- Achim A. Jungbluth
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Emad A. Rakha
- Department of Pathology, University of Nottingham
- Ian O. Ellis
- Department of Pathology, University of Nottingham
- Maria I. A. Edelweiss
- Hospital de Clínicas, Federal University of Rio Grande do Sul
- Juan Palazzo
- Department of Pathology, Jefferson Medical College
- Larry Norton
- Department of Medicine, Memorial Sloan Kettering Cancer Center
- Travis Hollmann
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Marcia Edelweiss
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Brian P. Rubin
- Departments of Pathology and Cancer Biology, Robert J. Tomsich Pathology and Laboratory Medicine Institute and The Lerner Research Institute, Cleveland Clinic
- Britta Weigelt
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- Jorge S. Reis-Filho
- Department of Pathology, Memorial Sloan Kettering Cancer Center
- DOI
- https://doi.org/10.1038/s41467-018-05886-y
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 13
Abstract
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.
