Renal angiomyolipoma (AML) harboring a missense mutation of

Aged Angiomyolipoma / genetics DNA Copy Number Variations Female Humans Kidney Neoplasms / genetics Loss of Heterozygosity Mutation, Missense Prognosis Tuberous Sclerosis Complex 2 Protein / genetics
AML Angiomyolipoma CN-LOH TSC TSC2 copy-neutral loss of heterozygosity exome sequencing tuberous sclerosis complex

Journal

Cancer biology & therapy
ISSN: 1555-8576
Titre abrégé: Cancer Biol Ther
Pays: United States
ID NLM: 101137842

Informations de publication

Date de publication:
02 04 2020
Historique:
pubmed: 19 12 2019
medline: 6 7 2021
entrez: 19 12 2019
Statut: ppublish

Résumé

Angiomyolipoma (AML) is classified as a perivascular epithelioid cell neoplasm, mostly occurring in the kidney. Twenty percent of patients with renal AML have tuberous sclerosis complex (TSC) caused by germline variation in the

Identifiants

DOI: 10.1080/15384047.2019.1702406 PMID: 31847710 PMC: PMC7515489
pubmed: 31847710
doi: 10.1080/15384047.2019.1702406
pmc: PMC7515489
doi:

Substances chimiques

TSC2 protein, human 0
Tuberous Sclerosis Complex 2 Protein 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

315-319

Références

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Auteurs

Masashi Idogawa (M)

Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan.
Department of Gastroenterology and Hepatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
ORCID: 0000-0002-8507-1726

Tokimasa Hida (T)

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Toshiaki Tanaka (T)

Department of Urology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Noriaki Ohira (N)

Keiwakai Nishioka Hospital, Sapporo, Japan.

Shoichiro Tange (S)

Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan.

Yasushi Sasaki (Y)

Biology, Department of Liberal Arts and Sciences Center for Medical Education, Sapporo Medical University, Sapporo, Japan.

Hisashi Uhara (H)

Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Naoya Masumori (N)

Department of Urology, Sapporo Medical University School of Medicine, Sapporo, Japan.

Takashi Tokino (T)

Department of Medical Genome Sciences, Research Institute for Frontier Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan.

Hiroshi Natori (H)

Keiwakai Nishioka Hospital, Sapporo, Japan.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Tumeurs du tissu conjonctif et des tissus mous › Tumeurs des cellules épithélioïdes périvasculaires › Angiomyolipome › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Maladies urogénitales › Maladies urologiques › Tumeurs urologiques › Tumeurs du rein › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Déséquilibre allélique › Perte d'hétérozygotie › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Diagnostic › Pronostic › Renal angiomyolipoma (AML) harboring a...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Protéines suppresseurs de tumeurs › Protéine-2 du complexe de la sclérose tubéreuse › Renal angiomyolipoma (AML) harboring a...