High prevalence of SMARCB1 constitutional abnormalities including mosaicism in malignant rhabdoid tumors.

Brain Neoplasms / genetics Child Child, Preschool Female Gene Deletion Gene Frequency Germ-Line Mutation Humans Infant Kidney Neoplasms / genetics Male Mosaicism Rhabdoid Tumor / genetics SMARCB1 Protein / genetics

Journal

European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235

Informations de publication

Date de publication:
08 2020
Historique:
received: 22 11 2019
accepted: 10 03 2020
revised: 02 03 2020
pubmed: 29 3 2020
medline: 2 6 2021
entrez: 29 3 2020
Statut: ppublish

Résumé

Intensive analysis of the SMARCB1 gene in malignant rhabdoid tumors (MRT) revealed eight of 16 patients with constitutional genetic variants. Three patients had mosaicism of deletion/variant of the SMARCB1 gene, which conventional methods might overlook. The prevalence of cancer predisposition in MRT may thus be higher than previously reported.

Identifiants

DOI: 10.1038/s41431-020-0614-z PMID: 32218533 PMC: PMC7381660
pubmed: 32218533
doi: 10.1038/s41431-020-0614-z
pii: 10.1038/s41431-020-0614-z
pmc: PMC7381660
doi:

Substances chimiques

SMARCB1 Protein 0
SMARCB1 protein, human 0

Types de publication

Letter Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

1124-1128

Références

Versteege I, Sevenet N, Lange J, Rousseau-Merck MF, Ambros P, Handgretinger R, et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature. 1998;394:203–6.
doi: 10.1038/28212
Reisman D, Glaros S, Thompson EA. The SWI/SNF complex and cancer. Oncogene. 2009;28:1653–68.
doi: 10.1038/onc.2009.4
Roberts CW, Biegel JA. The role of SMARCB1/INI1 in development of rhabdoid tumor. Cancer Biol Ther. 2009;8:412–6.
doi: 10.4161/cbt.8.5.8019
Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68:820–3.
doi: 10.1073/pnas.68.4.820
Bourdeaut F, Lequin D, Brugieres L, Reynaud S, Dufour C, Doz F, et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin Cancer Res. 2011;17:31–8.
doi: 10.1158/1078-0432.CCR-10-1795
Eaton KW, Tooke LS, Wainwright LM, Judkins AR, Biegel JA. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr Blood Cancer. 2011;56:7–15.
doi: 10.1002/pbc.22831
Kordes U, Gesk S, Fruhwald MC, Graf N, Leuschner I, Hasselblatt M, et al. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer. 2010;49:176–81.
doi: 10.1002/gcc.20729
Sevenet N, Sheridan E, Amram D, Schneider P, Handgretinger R, Delattre O. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet. 1999;65:1342–8.
doi: 10.1086/302639
Bruggers CS, Bleyl SB, Pysher T, Barnette P, Afify Z, Walker M, et al. Clinicopathologic comparison of familial versus sporadic atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system. Pediatr Blood Cancer. 2011;56:1026–31.
doi: 10.1002/pbc.22757
Acuna-Hidalgo R, Bo T, Kwint MP, van de Vorst M, Pinelli M, Veltman JA, et al. Post-zygotic point mutations are an underrecognized source of de novo genomic variation. Am J Hum Genet. 2015;97:67–74.
doi: 10.1016/j.ajhg.2015.05.008
Renaux-Petel M, Charbonnier F, Thery JC, Fermey P, Lienard G, Bou J, et al. Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome. J Med Genet. 2018;55:173–80.
doi: 10.1136/jmedgenet-2017-104976
Holsten T, Bens S, Oyen F, Nemes K, Hasselblatt M, Kordes U, et al. Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis. Eur J Hum Genet. 2018;26:1083–93.
doi: 10.1038/s41431-018-0143-1
Kluwe L. Digital PCR for discriminating mosaic deletions and for determining proportion of tumor cells in specimen. Eur J Hum Genet. 2016;24:1644.
doi: 10.1038/ejhg.2016.56
Yamamoto G, Nannya Y, Kato M, Sanada M, Levine RL, Kawamata N, et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. Am J Hum Genet. 2007;81:114–26.
doi: 10.1086/518809
Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, et al. Germline mutations in predisposition genes in pediatric cancer. N Engl J Med. 2015;373:2336–46.
doi: 10.1056/NEJMoa1508054
Gröbner SN, Worst BC, Weischenfeldt J, Buchhalter I, Kleinheinz K, Rudneva VA, et al. The landscape of genomic alterations across childhood cancers. Nature. 2018;555:321.
doi: 10.1038/nature25480
Smith MJ, Wallace AJ, Bowers NL, Eaton H, Evans DGR. SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. Cancer Genet. 2014;207:373–8.
doi: 10.1016/j.cancergen.2014.04.001
Bhatt MD, Al-Karmi S, Druker H, Gupta A, Lu M, Malkin D, et al. Second rhabdoid tumor 8 years after treatment of atypical teratoid/rhabdoid tumor in a child with germline SMARCB1 mutation. Pediatr Blood Cancer. 2019;66:e27546.
doi: 10.1002/pbc.27546
Janson K, Nedzi LA, David O, Schorin M, Walsh JW, Bhattacharjee M, et al. Predisposition to atypical teratoid/rhabdoid tumor due to an inherited INI1 mutation. Pediatr Blood Cancer. 2006;47:279–84.
doi: 10.1002/pbc.20622
Gigante L, Paganini I, Frontali M, Ciabattoni S, Sangiuolo FC, Papi L. Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism. Fam Cancer. 2016;15:123–6.
doi: 10.1007/s10689-015-9836-6

Auteurs

Ryota Shirai (R)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Pediatrics, Yokohama City University, Yokohama, Japan.

Tomoo Osumi (T)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.
ORCID: 0000-0001-5536-6788

Keita Terashima (K)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Chikako Kiyotani (C)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Meri Uchiyama (M)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Shinichi Tsujimoto (S)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Masanori Yoshida (M)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.
Department of Pediatrics, Yokohama City University, Yokohama, Japan.

Kaoru Yoshida (K)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Toru Uchiyama (T)

Department of Human Genetics, National Research Institute for Child Health and Development, Tokyo, Japan.

Daisuke Tomizawa (D)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Yoko Shioda (Y)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Masahiro Sekiguchi (M)

Department of Pediatrics, University of Tokyo, Tokyo, Japan.

Kenichiro Watanabe (K)

Department of Hematology and Oncology, Shizuoka Children's Hospital, Shizuoka, Japan.

Dai Keino (D)

Department of Pediatrics, St. Marianna University School of Medicine Hospital, Kawasaki, Japan.

Hitomi Ueno-Yokohata (H)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Kentaro Ohki (K)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Junko Takita (J)

Department of Pediatrics, University of Tokyo, Tokyo, Japan.

Shuichi Ito (S)

Department of Pediatrics, Yokohama City University, Yokohama, Japan.

Takao Deguchi (T)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Nobutaka Kiyokawa (N)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan.

Hideki Ogiwara (H)

Division of Neurosurgery, National Center for Child Health and Development, Tokyo, Japan.

Tomoro Hishiki (T)

Division of Surgery Oncology, Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Seishi Ogawa (S)

Department of Pathology and Tumor Biology, Graduate School of Medicine Kyoto University, Kyoto, Japan.

Hajime Okita (H)

Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.
Department of Pathology, Keio University School of Medicine, Tokyo, Japan.

Kimikazu Matsumoto (K)

Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan.

Takako Yoshioka (T)

Department of Pathology, National Center for Child Health and Development, Tokyo, Japan.

Motohiro Kato (M)

Department of Pediatric Hematology and Oncology Research, National Research Institute for Child Health and Development, Tokyo, Japan. katom-tky@umin.ac.jp.
Children's Cancer Center, National Center for Child Health and Development, Tokyo, Japan. katom-tky@umin.ac.jp.
ORCID: 0000-0001-5145-1774

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Classifications MeSH

questionsmedicales.fr › Maladies du système nerveux › Tumeurs du système nerveux › Tumeurs du système nerveux central › Tumeurs du cerveau › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Phénomènes génétiques › Fréquence d'allèle › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation germinale › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Tumeurs urologiques › Tumeurs du rein › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Mosaïcisme › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs complexes et mixtes › Tumeur rhabdoïde › High prevalence of SMARCB1 constitutional...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéine SMARCB1 › High prevalence of SMARCB1 constitutional...