Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.

Burkitt Lymphoma CREB-Binding Protein / genetics Child Chromosome Aberrations Female Genotype Haploidy Humans Mutation Precursor Cell Lymphoblastic Leukemia-Lymphoma Rubinstein-Taybi Syndrome / genetics
ALL CREBBP RSTS cancer predisposition hypodiploid

Journal

Pediatric hematology and oncology
ISSN: 1521-0669
Titre abrégé: Pediatr Hematol Oncol
Pays: England
ID NLM: 8700164

Informations de publication

Date de publication:
Nov 2022
Historique:
pubmed: 12 3 2022
medline: 19 10 2022
entrez: 11 3 2022
Statut: ppublish

Résumé

Rubinstein-Taybi syndrome (RSTS) is a rare disorder characterized by developmental delay, short stature, dysmorphic facies and skeletal abnormalities. RSTS has been linked to a variety of malignant and benign tumors, but the frequency and characteristics of RSTS-related neoplasms remain unclear. We describe a unique case of near haploid B-cell lymphoblastic leukemia (B-ALL) in a 6-year-old girl with RSTS who harbors a likely pathogenic variant in

Identifiants

DOI: 10.1080/08880018.2022.2049938 PMID: 35275800
pubmed: 35275800
doi: 10.1080/08880018.2022.2049938
doi:

Substances chimiques

CREB-Binding Protein EC 2.3.1.48

Types de publication

Case Reports Letter

Langues

eng

Sous-ensembles de citation

IM

Pagination

747-754

Auteurs

Kristen J Kurtz (KJ)

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
ORCID: 0000-0001-5271-5196

Eran Tallis (E)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Andrea N Marcogliese (AN)

Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, USA.

Rao H Pulivarthi (RH)

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.

Lorraine Potocki (L)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

Alexandra M Stevens (AM)

Department of Pediatrics, Section of Hematology/Oncology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas, USA.
ORCID: 0000-0002-7292-2464

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Classifications MeSH

questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Lymphomes › Lymphome malin non hodgkinien › Lymphome B › Lymphome de Burkitt › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription CBP-p300 › Protéine CBP › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Aberrations des chromosomes › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Phénomènes génétiques › Ploïdies › Haploïdie › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Leucémie lymphoïde › Leucémie-lymphome lymphoblastique à précurseurs B et T › Near-Haploid B-Cell Acute Lymphoblastic...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Rubinstein-Taybi › Near-Haploid B-Cell Acute Lymphoblastic...