Biased Clonal Evolution in Acute Promyelocytic Leukemia through Imbalances Affecting the der(17) but Not the der(15) Chromosome: Report of Two Cases.
Acute promyelocytic leukemia
Case report
Cumulative haploinsufficiency and triplosensitivity
Fusion of PML and RARA genes
ider(17)(q10)
Journal
Cytogenetic and genome research
ISSN: 1424-859X
Titre abrégé: Cytogenet Genome Res
Pays: Switzerland
ID NLM: 101142708
Informations de publication
Date de publication:
2022
2022
Historique:
received:
10
08
2022
accepted:
04
10
2022
medline:
5
4
2023
pubmed:
2
2
2023
entrez:
1
2
2023
Statut:
ppublish
Résumé
Acute promyelocytic leukemia (APL) is characterized by the chromosomal translocation t(15;17)(q24;q21), raising two hybrid genes: PML::RARA and RARA::PML. There is a biased clonal evolution in APL since imbalances affecting the der(15) chromosome (the one that carries the transforming PML::RARA gene) have never been reported; instead, imbalances of the der(17), mainly in form of an ider(17)(q10), have been repeatedly documented. We here present two cases with APL who acquired an ider(17)(q10) as a secondary chromosomal change. The presence of the ider(17)(q10) implies several genomic consequences with potential to fuel tumor progression: (1) a duplication of the hybrid gene RARA::PML; (2) a cumulative haploinsufficiency for tumor suppressor genes located in the 17p arm; and (3) a cumulative triplosensitivity of genes located in 17q10→RARA::PML→15qter. Both our patients were treated following the PETHEMA LPA 2012 protocol with ATRA plus idarubicin and they have had a long event-free survival.
Identifiants
pubmed: 36724749
pii: 000527370
doi: 10.1159/000527370
doi:
Substances chimiques
Oncogene Proteins, Fusion
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
306-311Informations de copyright
© 2023 S. Karger AG, Basel.