Identification of novel, clonally stable, somatic mutations targeting transcription factors PAX5 and NKX2-3, the epigenetic regulator LRIF1, and BRAF in a case of atypical B-cell chronic lymphocytic leukemia harboring a t(14;18)(q32;q21).
Aged
Cell Cycle Proteins
/ genetics
Clonal Evolution
Epigenesis, Genetic
Homeodomain Proteins
/ genetics
Humans
Leukemia, Lymphocytic, Chronic, B-Cell
/ drug therapy
Male
Mutation
PAX5 Transcription Factor
/ genetics
Prognosis
Proto-Oncogene Proteins B-raf
/ genetics
Proto-Oncogene Proteins c-bcl-2
/ genetics
Receptor, Notch1
/ genetics
Transcription Factors
/ genetics
Translocation, Genetic
Tumor Suppressor Protein p53
/ genetics
Exome Sequencing
hematological neoplasm
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
21
10
2020
accepted:
06
02
2021
entrez:
20
2
2021
pubmed:
21
2
2021
medline:
24
11
2021
Statut:
epublish
Résumé
Diagnosis of B-cell chronic lymphocytic leukemia (B-CLL) is usually straightforward, involving clinical, immunophenotypic (Matutes score), and (immuno)genetic analyses (to refine patient prognosis for treatment). CLL cases with atypical presentation (e.g., Matutes ≤ 3) are also encountered, and for these diseases, biology and prognostic impact are less clear. Here we report the genomic characterization of a case of atypical B-CLL in a 70-yr-old male patient; B-CLL cells showed a Matutes score of 3, chromosomal translocation t(14;18)(q32;q21) (
Identifiants
pubmed: 33608382
pii: mcs.a005934
doi: 10.1101/mcs.a005934
pmc: PMC7903887
pii:
doi:
Substances chimiques
BCL2 protein, human
0
Cell Cycle Proteins
0
Homeodomain Proteins
0
LRIF1 protein, human
0
NKX2-3 protein, human
0
NOTCH1 protein, human
0
PAX5 Transcription Factor
0
PAX5 protein, human
0
Proto-Oncogene Proteins c-bcl-2
0
Receptor, Notch1
0
TP53 protein, human
0
Transcription Factors
0
Tumor Suppressor Protein p53
0
BRAF protein, human
EC 2.7.11.1
Proto-Oncogene Proteins B-raf
EC 2.7.11.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2021 Burlet et al.; Published by Cold Spring Harbor Laboratory Press.
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