Molecular dissection of a hyper-aggressive CBFB-MYH11/FLT3-ITD-positive acute myeloid leukemia.
Journal
Journal of translational medicine
ISSN: 1479-5876
Titre abrégé: J Transl Med
Pays: England
ID NLM: 101190741
Informations de publication
Date de publication:
06 07 2022
06 07 2022
Historique:
received:
09
06
2022
accepted:
13
06
2022
entrez:
6
7
2022
pubmed:
7
7
2022
medline:
9
7
2022
Statut:
epublish
Résumé
Acute Myeloid Leukaemia (AML) is a haematological malignancy showing a hypervariable landscape of clinical outcomes and phenotypic differences, explainable by heterogeneity at the cellular and molecular level. Among the most common genomic alterations, CBFB-MYH11 rearrangement and FLT3-ITD gene mutations, have opposite clinical significance and are unfrequently associated. We present here a Molecular Case Report in which these two events co-exist an ultra-aggressive phenotype resulting in death in 4 days from hospital admittance. Somatic and germline Whole Exome Sequencing analysis was performed to uncover other putative driver mutations, de-novo genomic structural events or germline clusters increasing cancer insurgence. Only three mutations in LTK, BCAS2 and LGAS9 were found, unlikely causative of the exhibited phenotype, prompting to additional investigation of the rare CBFB-MYH11/ FLT3-ITD scenario.
Identifiants
pubmed: 35794567
doi: 10.1186/s12967-022-03486-5
pii: 10.1186/s12967-022-03486-5
pmc: PMC9258203
doi:
Substances chimiques
CBFB protein, human
0
Core Binding Factor beta Subunit
0
MYH11 protein, human
0
FLT3 protein, human
EC 2.7.10.1
fms-Like Tyrosine Kinase 3
EC 2.7.10.1
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
311Informations de copyright
© 2022. The Author(s).
Références
Leukemia. 2008 Feb;22(2):303-7
pubmed: 17960171
Annu Rev Genomics Hum Genet. 2002;3:179-98
pubmed: 12194988
J Clin Med. 2016 Mar 05;5(3):
pubmed: 26959069
Blood. 2007 Aug 15;110(4):1262-70
pubmed: 17456725
PLoS One. 2012;7(2):e31733
pubmed: 22347506
Cancer Metastasis Rev. 2020 Mar;39(1):189-209
pubmed: 31925603
Curr Oncol Rep. 2017 Mar;19(3):21
pubmed: 28283965
Leukemia. 2018 Oct;32(10):2167-2177
pubmed: 29550834
N Engl J Med. 2016 Nov 24;375(21):2023-2036
pubmed: 27959731
Haematologica. 2004 Jan;89(1):106
pubmed: 14754614
Adv Biol Regul. 2019 Jan;71:41-54
pubmed: 30245264
Oncogene. 2019 Feb;38(9):1367-1380
pubmed: 30305723
J Med Case Rep. 2021 Jan 26;15(1):22
pubmed: 33494808
Blood. 2016 May 19;127(20):2451-9
pubmed: 26980726
Leukemia. 2020 Dec;34(12):3149-3160
pubmed: 32132655
Leukemia. 2020 Jun;34(6):1553-1562
pubmed: 31896782
J Clin Oncol. 2010 Jun 1;28(16):2674-81
pubmed: 20439644
Leukemia. 2006 Jun;20(6):965-70
pubmed: 16598313
Front Pediatr. 2019 Sep 06;7:368
pubmed: 31555628
N Engl J Med. 2013 May 30;368(22):2059-74
pubmed: 23634996
N Engl J Med. 2016 Jun 9;374(23):2209-2221
pubmed: 27276561
Cancers (Basel). 2019 Nov 20;11(12):
pubmed: 31756944
Cancer Discov. 2012 May;2(5):401-4
pubmed: 22588877
Blood. 2008 Feb 1;111(3):1567-74
pubmed: 17967943
Hematol Oncol Stem Cell Ther. 2016 Sep;9(3):89-95
pubmed: 27187622
Br J Haematol. 2013 Feb;160(4):557-9
pubmed: 23190472
Clin Lymphoma Myeloma Leuk. 2020 Aug;20(8):e529-e541
pubmed: 32473792
Nature. 2018 Oct;562(7728):526-531
pubmed: 30333627
Br J Haematol. 2003 Jan;120(1):89-92
pubmed: 12492581
Curr Opin Oncol. 2008 Nov;20(6):711-8
pubmed: 18841055
Haematologica. 2022 Apr 01;107(4):836-843
pubmed: 34348451
Br J Haematol. 2003 Jun;121(5):775-7
pubmed: 12780793
Blood. 2017 Jan 26;129(4):424-447
pubmed: 27895058
Int J Mol Sci. 2019 Feb 22;20(4):
pubmed: 30813351
Blood Cancer J. 2021 Feb 22;11(2):41
pubmed: 33619261
Mol Clin Oncol. 2020 Aug;13(2):95-100
pubmed: 32714530
Cancers (Basel). 2020 Nov 01;12(11):
pubmed: 33139625