Chromothripsis in myeloid malignancies.

TP53 mutation Chromothripsis Complex karyotype Myeloid malignancy

Journal

Annals of hematology

ISSN: 1432-0584

Titre abrégé: Ann Hematol

Pays: Germany

ID NLM: 9107334

Informations de publication

Date de publication:
30 May 2024

Historique:

received: 06 03 2024

accepted: 22 05 2024

medline: 30 5 2024

pubmed: 30 5 2024

entrez: 30 5 2024

Statut: aheadofprint

Résumé

Chromothripsis refers to massive genomic rearrangements developed during a catastrophic event. In total acute myeloid leukemia (AML), the incidence of chromothripsis ranges from 0 to 6.6%, in cases of complex karyotype AML, the incidence of chromothripsis ranges from 27.3 to 100%, whereas in cases of AML with TP53 mutations, the incidence ranges from 11.1 to 90%. For other types of malignancies, the incidence of chromothripsis also varies, from 0 to 10.5% in myelodysplastic syndrome to up to 61.5% in cases of myelodysplastic syndrome with TP53 mutations.Chromothripsis is typically associated with complex karyotypes and TP53 mutations, and monosomal karyotypes are associated with the condition. ERG amplifications are frequently noted in cases of chromothripsis, whereas MYC amplifications are not. Moreover, FLT3 and NPM1 mutations are negatively associated with chromothripsis. Chromothripsis typically occurs in older patients with AML with low leukocyte counts and bone marrow blast counts. Rare cases of patients with chromothripsis who received intensive induction chemotherapy revealed low response rates and poor overall prognosis. Signal pathways in chromothripsis typically involve copy number gain and upregulation of oncogene gene sets that promote cancer growth and a concomitant copy number loss and downregulation of gene sets associated with tumor suppression functions.Patients with chromothripsis showed a trend of lower complete remission rate and worse overall survival in myeloid malignancy. Large-scale studies are required to further elucidate the causes and treatments of the condition.

Identifiants

DOI: 10.1007/s00277-024-05814-9 PMID: 38814446

pubmed: 38814446

doi: 10.1007/s00277-024-05814-9

pii: 10.1007/s00277-024-05814-9

doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

Subventions

Organisme : National Taiwan University Hospital, Taiwan

ID : 111-S0097

Informations de copyright

Références

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