Acute myeloid leukemia with t(X;6)9p11;q23);MYB-GATA1 and female sex: GATA1 insufficiency may be insufficient for pathogenesis.
Chromosomes, Human, Pair 6
/ genetics
Chromosomes, Human, Pair 9
/ genetics
Chromosomes, Human, X
/ genetics
Female
GATA1 Transcription Factor
/ genetics
Humans
Infant
Leukemia, Myeloid, Acute
/ genetics
Oncogene Proteins, Fusion
/ genetics
Proto-Oncogene Proteins c-myb
/ genetics
Sequence Analysis, RNA
Translocation, Genetic
Acute myeloid leukemia
Infant leukemia
MYB-GATA1
RNA sequencing
Journal
Cancer genetics
ISSN: 2210-7762
Titre abrégé: Cancer Genet
Pays: United States
ID NLM: 101539150
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
14
06
2021
revised:
27
09
2021
accepted:
30
11
2021
pubmed:
17
12
2021
medline:
17
2
2022
entrez:
16
12
2021
Statut:
ppublish
Résumé
Pediatric acute myeloid leukemia (AML) is genetically heterogenous (Olsson et al., 2016). t(X;6)(p11;q23) is a rare but recurrent chromosomal translocation in infant AML thought to be associated with male sex and basophilic differentiation (Dastugue et al., 1997). Here we report molecular characterization of AML with t(X;6)(p11;q23);MYB-GATA1 in two female infants and demonstrate preserved GATA1 expression in the sample tested. These findings further debunk a concept that this fusion was restricted to males, in whom it disrupts the only copy of the X-linked GATA1 gene, causing presumable complete loss of GATA1 function. Our data also demonstrate the power and efficiency of RNA sequencing for subclassification of leukemia on a clinically relevant timeline.
Identifiants
pubmed: 34915342
pii: S2210-7762(21)00233-7
doi: 10.1016/j.cancergen.2021.11.007
pii:
doi:
Substances chimiques
GATA1 Transcription Factor
0
GATA1 protein, human
0
MYB protein, human
0
Oncogene Proteins, Fusion
0
Proto-Oncogene Proteins c-myb
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
37-40Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare no conflict of interest.