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
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

306-311

Informations de copyright

© 2023 S. Karger AG, Basel.

Auteurs

Adriana García-Romero (A)

Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

Rosa María González-Arreola (RM)

Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

César Borjas-Gutiérrez (C)

Servicio de Hematología, UMAE Hospital de Especialidades, Centro Médico Nacional de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

María Teresa Magaña-Torres (MT)

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

Juan Ramón González-García (JR)

División de Genética, Centro de Investigación Biomédica de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Mexico.

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Classifications MeSH