Therapy-induced Deletion in 11q23 Leading to Fusion of

Child Chromosomes, Human, Pair 11 Female Gene Deletion Gene Fusion Guanine Nucleotide Exchange Factors / genetics Histone-Lysine N-Methyltransferase / genetics Humans Leukemia, Myeloid, Acute / drug therapy Myeloid-Lymphoid Leukemia Protein / genetics Nuclear Proteins / genetics Precursor Cell Lymphoblastic Leukemia-Lymphoma / drug therapy
ARHGEF12 KMT2A KMT2A-ARHGEF12 KMT2A-MLLT3. Pediatric leukemia acute lymphoblastic leukemia acute myeloid leukemia chemotherapy fusion gene

Journal

Cancer genomics & proteomics
ISSN: 1790-6245
Titre abrégé: Cancer Genomics Proteomics
Pays: Greece
ID NLM: 101188791

Informations de publication

Date de publication:
Historique:
received: 30 09 2020
revised: 25 10 2020
accepted: 27 10 2020
entrez: 9 1 2021
pubmed: 10 1 2021
medline: 21 8 2021
Statut: ppublish

Résumé

Fusion of histone-lysine N-methyltransferase 2A gene (KMT2A) with the Rho guanine nucleotide exchange factor 12 gene (ARHGEF12), both located in 11q23, was reported in some leukemic patients. We report a KMT2A-ARHGEF12 fusion occurring during treatment of a pediatric acute myeloid leukemia (AML) with topoisomerase II inhibitors leading to a secondary acute lymphoblastic leukemia (ALL). Multiple genetic analyses were performed on bone marrow cells of a girl initially diagnosed with AML. At the time of diagnosis with AML, the t(9;11)(p21;q23)/KMT2A-MLLT3 genetic abnormality was found. After chemotherapy resulting in AML clinical remission, a 2 Mb deletion in 11q23 was found generating a KMT2A-ARHGEF12 fusion gene. When the patient later developed B lineage ALL, a t(14;19)(q32;q13), loss of one chromosome 9, and KMT2A-ARHGEF12 were detected. The patient sequentially developed AML and ALL with three leukemia-specific genomic abnormalities in her bone marrow cells, two of which were KMT2A-rearrangements.

Sections du résumé

BACKGROUND/AIM OBJECTIVE
Fusion of histone-lysine N-methyltransferase 2A gene (KMT2A) with the Rho guanine nucleotide exchange factor 12 gene (ARHGEF12), both located in 11q23, was reported in some leukemic patients. We report a KMT2A-ARHGEF12 fusion occurring during treatment of a pediatric acute myeloid leukemia (AML) with topoisomerase II inhibitors leading to a secondary acute lymphoblastic leukemia (ALL).
MATERIALS AND METHODS METHODS
Multiple genetic analyses were performed on bone marrow cells of a girl initially diagnosed with AML.
RESULTS RESULTS
At the time of diagnosis with AML, the t(9;11)(p21;q23)/KMT2A-MLLT3 genetic abnormality was found. After chemotherapy resulting in AML clinical remission, a 2 Mb deletion in 11q23 was found generating a KMT2A-ARHGEF12 fusion gene. When the patient later developed B lineage ALL, a t(14;19)(q32;q13), loss of one chromosome 9, and KMT2A-ARHGEF12 were detected.
CONCLUSION CONCLUSIONS
The patient sequentially developed AML and ALL with three leukemia-specific genomic abnormalities in her bone marrow cells, two of which were KMT2A-rearrangements.

Identifiants

DOI: 10.21873/cgp.20242 PMID: 33419897 PMC: PMC7796818
pubmed: 33419897
pii: 18/1/67
doi: 10.21873/cgp.20242
pmc: PMC7796818
doi:

Substances chimiques

Guanine Nucleotide Exchange Factors 0
KMT2A protein, human 0
MLLT3 protein, human 0
Nuclear Proteins 0
Myeloid-Lymphoid Leukemia Protein 149025-06-9
Histone-Lysine N-Methyltransferase EC 2.1.1.43

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

67-81

Informations de copyright

Copyright© 2021, International Institute of Anticancer Research (Dr. George J. Delinasios), All rights reserved.

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Auteurs

Ioannis Panagopoulos (I)

Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; ioannis.panagopoulos@rr-research.no.

Kristin Andersen (K)

Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

Martine Eilert-Olsen (M)

Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

Bernward Zeller (B)

Department of Pediatric Hematology and Oncology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

Monica Cheng Munthe-Kaas (MC)

Department of Pediatric Hematology and Oncology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

Jochen Buechner (J)

Department of Pediatric Hematology and Oncology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

Liv T N Osnes (LTN)

Department of Immunology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.

Francesca Micci (F)

Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

Sverre Heim (S)

Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Chromosomes › Chromosomes de mammifère › Chromosomes humains › Chromosomes humains 6-12 et X › Chromosomes humains de la paire 11 › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Délétion de séquence › Délétion de gène › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Phénomènes génétiques › Recombinaison génétique › Fusion de gènes › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › One-carbon group transferases › Methyltransferases › Protein Methyltransferases › Histone méthyltransférases › Histone-lysine N-methyltransferase › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Tumeurs › Tumeurs par type histologique › Leucémies › Leucémie myéloïde › Leucémie aigüe myéloïde › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéine de la leucémie myéloïde-lymphoïde › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines nucléaires › Therapy-induced Deletion in 11q23 Leading to Fusion of
questionsmedicales.fr › Maladies du système immunitaire › Syndromes immunoprolifératifs › Syndromes lymphoprolifératifs › Leucémie lymphoïde › Leucémie-lymphome lymphoblastique à précurseurs B et T › Therapy-induced Deletion in 11q23 Leading to Fusion of