KMT2A-ARHGEF12, a therapy related fusion with poor prognosis.
ARHGEF12
Acute lymphoid leukemia
Acute myeloid leukemia
KMT2A
Plasmacytoid dendritic cell
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
26
04
2021
accepted:
03
08
2021
pubmed:
13
8
2021
medline:
28
1
2022
entrez:
12
8
2021
Statut:
ppublish
Résumé
The detection of KMT2A gene rearrangements have an important impact on the prognosis and management of acute leukemias. These alterations most commonly involve reciprocal translocations at specific breakpoint regions within KMT2A. To date, more than 100 translocation partner genes of KMT2A have been identified, with different effects on risk stratification. We report the case of a mature plasmacytoid dendritic cells proliferation associated with B lymphoblasts harboring a KMT2A-ARHGEF12 fusion. This rare rearrangement, resulting from a cryptic deletion on the long arm of chromosome 11, is located outside the known major and minor breakpoint regions of KMT2A, not reported to date. The review of the few cases of KMT2A-ARHGEF12 reveals the tendency of this deletion to occur in therapy related hematologic neoplasm and confer unfavorable prognosis. This review sheds light into the rare KMT2A-ARHGEF12 fusion in leukemia. Reporting rare chimeras is essential to improve knowledge about the biological mechanism and associated clinical consequences.
Sections du résumé
BACKGROUND
BACKGROUND
The detection of KMT2A gene rearrangements have an important impact on the prognosis and management of acute leukemias. These alterations most commonly involve reciprocal translocations at specific breakpoint regions within KMT2A. To date, more than 100 translocation partner genes of KMT2A have been identified, with different effects on risk stratification.
METHODS AND RESULTS
RESULTS
We report the case of a mature plasmacytoid dendritic cells proliferation associated with B lymphoblasts harboring a KMT2A-ARHGEF12 fusion. This rare rearrangement, resulting from a cryptic deletion on the long arm of chromosome 11, is located outside the known major and minor breakpoint regions of KMT2A, not reported to date. The review of the few cases of KMT2A-ARHGEF12 reveals the tendency of this deletion to occur in therapy related hematologic neoplasm and confer unfavorable prognosis.
CONCLUSION
CONCLUSIONS
This review sheds light into the rare KMT2A-ARHGEF12 fusion in leukemia. Reporting rare chimeras is essential to improve knowledge about the biological mechanism and associated clinical consequences.
Identifiants
pubmed: 34383244
doi: 10.1007/s11033-021-06621-5
pii: 10.1007/s11033-021-06621-5
doi:
Substances chimiques
KMT2A-ARHGEF12 protein, human
0
Oncogene Proteins, Fusion
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
7021-7027Informations de copyright
© 2021. The Author(s), under exclusive licence to Springer Nature B.V.
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