Frequent mutations of genes encoding vacuolar H

Granular Cell Tumor / genetics Humans Mutation Rate Receptors, Cell Surface / genetics Vacuolar Proton-Translocating ATPases / genetics
V-ATPase genomic profiling granular cell tumor

Journal

Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329

Informations de publication

Date de publication:
06 2019
Historique:
received: 31 10 2018
revised: 25 12 2018
accepted: 27 12 2018
pubmed: 1 1 2019
medline: 21 5 2019
entrez: 1 1 2019
Statut: ppublish

Résumé

Granular cell tumors (GCTs) are rare mesenchymal tumors that exhibit a characteristic morphology and a finely granular cytoplasm. The genetic alterations responsible for GCT tumorigenesis had been unknown until recently, when loss-of-function mutations of ATP6AP1 and ATP6AP2 were described. Thus, we performed whole-exome sequencing, RNA sequencing, and targeted sequencing of 51 GCT samples. From these genomic analyses, we identified mutations in genes encoding vacuolar H

Identifiants

DOI: 10.1002/gcc.22727 PMID: 30597645
pubmed: 30597645
doi: 10.1002/gcc.22727
doi:

Substances chimiques

ATP6AP1 protein, human 0
ATP6AP2 protein, human 0
Receptors, Cell Surface 0
Vacuolar Proton-Translocating ATPases EC 3.6.1.-

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

373-380

Informations de copyright

© 2018 Wiley Periodicals, Inc.

Auteurs

Masaya Sekimizu (M)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.
Department of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo, Japan.
Department of Orthopaedic Surgery, Showa University School of Medicine, Tokyo, Japan.

Akihiko Yoshida (A)

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.

Sachiyo Mitani (S)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.

Naofumi Asano (N)

Department of Orthopaedic Surgery, Keio University School of Medicine, Tokyo, Japan.

Makoto Hirata (M)

Laboratory of Genome Technology, Institute of Medical Science, University of Tokyo, Tokyo, Japan.

Takashi Kubo (T)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.
Division of Translational Genomics, National Cancer Center-Exploratory Oncology Research & Clinical Trial Center, Tokyo, Japan.

Fumito Yamazaki (F)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

Hiromi Sakamoto (H)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.

Mamoru Kato (M)

Department of Bioinformatics, National Cancer Center Research Institute, Tokyo, Japan.
ORCID: 0000-0002-8485-8316

Naohiro Makise (N)

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.
ORCID: 0000-0002-6991-747X

Taisuke Mori (T)

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.

Naoya Yamazaki (N)

Department of Dermatologic Oncology, National Cancer Center Hospital, Tokyo, Japan.

Shigeki Sekine (S)

Department of Pathology and Clinical Laboratories, National Cancer Center Hospital, Tokyo, Japan.

Ichiro Oda (I)

Endoscopy Division, National Cancer Center Hospital, Tokyo, Japan.

Shun-Ichi Watanabe (SI)

Department of Thoracic Surgery, National Cancer Center Hospital, Tokyo, Japan.

Hiroaki Hiraga (H)

Department of Orthopaedic Surgery, Hokkaido Cancer Center, Sapporo, Japan.

Tsukasa Yonemoto (T)

Division of Orthopaedic Surgery, Chiba Cancer Center, Chiba, Japan.

Teruya Kawamoto (T)

Department of Orthopaedic Surgery, Kobe University Graduate School of Medicine, Kobe, Japan.

Norifumi Naka (N)

Musculoskeletal Oncology Service, Osaka International Cancer Institute, Osaka, Japan.

Yuki Funauchi (Y)

Department of Orthopaedic Surgery, The Cancer Institute, Japanese Foundation for Cancer Research, Tokyo, Japan.

Yoshihiro Nishida (Y)

Department of Rehabilitation, Nagoya University Hospital, Nagoya, Japan.

Kanya Honoki (K)

Department of Orthopedic Surgery, Nara Medical University, Kashihara, Nara, Japan.

Hirotaka Kawano (H)

Department of Orthopaedic Surgery, Teikyo University School of Medicine, Tokyo, Japan.

Hiroyuki Tsuchiya (H)

Department of Orthopaedic Surgery, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

Toshiyuki Kunisada (T)

Department of Orthopaedic Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

Koichi Matsuda (K)

Laboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, University of Tokyo, Tokyo, Japan.

Katsunori Inagaki (K)

Department of Orthopaedic Surgery, Showa University School of Medicine, Tokyo, Japan.

Akira Kawai (A)

Department of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo, Japan.

Hitoshi Ichikawa (H)

Department of Clinical Genomics, National Cancer Center Research Institute, Tokyo, Japan.
Division of Translational Genomics, National Cancer Center-Exploratory Oncology Research & Clinical Trial Center, Tokyo, Japan.
ORCID: 0000-0003-0142-2240

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Classifications MeSH

questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu conjonctif et des tissus mous › Tumeurs du tissu musculaire › Tumeur à cellules granuleuses › Frequent mutations of genes encoding vacuolar H
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Frequent mutations of genes encoding vacuolar H
questionsmedicales.fr › Phénomènes biologiques › Évolution biologique › Évolution moléculaire › Taux de mutation › Frequent mutations of genes encoding vacuolar H
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Frequent mutations of genes encoding vacuolar H
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Pompes ioniques › Transporteurs de cations › Pompes à protons › Proton-Translocating ATPases › Vacuolar Proton-Translocating ATPases › Frequent mutations of genes encoding vacuolar H