t(1;7;22)(p13;q21;q13) is a novel 3-way variant of t(1;22)(p13;q13) neonatal acute megakaryoblastic leukemia: A case report.
acute myeloid leukemia
chromosomal translocation
pediatric hematology
Journal
Molecular and clinical oncology
ISSN: 2049-9469
Titre abrégé: Mol Clin Oncol
Pays: England
ID NLM: 101613422
Informations de publication
Date de publication:
Mar 2023
Mar 2023
Historique:
received:
23
01
2021
accepted:
01
06
2021
entrez:
17
2
2023
pubmed:
18
2
2023
medline:
18
2
2023
Statut:
epublish
Résumé
Acute megakaryoblastic leukemia (AMKL) is a rare disease, occurring mostly in infants and young children. The chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a recurrent and diagnostic translocation in infants with AMKL. The present case report describes a case of a newborn girl, without Down's syndrome, with congenital AMKL. At birth, the infant had hepatosplenomegaly and the peripheral blood count revealed anemia, thrombopenia and leukocytosis, with 28% blasts. Immunophenotyping demonstrated blasts positive for CD34, CD61 and CD42b. Karyotyping of these blasts (R-banding) showed a hitherto unreported chromosomal translocation, t(1;7;22)(p13;q21;q13), a 3-way variant of the t(1;22)(p13;q13) variant. Fluorescent
Identifiants
pubmed: 36798463
doi: 10.3892/mco.2023.2614
pii: MCO-0-0-02614
pmc: PMC9926329
doi:
Types de publication
Case Reports
Langues
eng
Pagination
18Informations de copyright
Copyright: © Messiaen et al.
Déclaration de conflit d'intérêts
The authors declare that they have no competing interests.
Références
Clin Case Rep. 2015 Mar;3(3):145-9
pubmed: 25838902
Crit Rev Oncol Hematol. 2019 Jun;138:132-138
pubmed: 31092368
Leukemia. 2005 Aug;19(8):1495-6
pubmed: 15920489
Turk J Haematol. 2015 Mar 5;32(1):64-7
pubmed: 25805677
Blood. 2002 Jul 15;100(2):618-26
pubmed: 12091356
Ann Hematol. 2015 Aug;94(8):1327-36
pubmed: 25913479
Blood. 2001 Jun 15;97(12):3727-32
pubmed: 11389009
Blood. 1992 Jun 15;79(12):3325-30
pubmed: 1596573
Nat Genet. 2017 Mar;49(3):451-456
pubmed: 28112737
Nat Genet. 2001 Jul;28(3):220-1
pubmed: 11431691
J Clin Oncol. 2010 Apr 20;28(12):2101-7
pubmed: 20308656
Am J Case Rep. 2017 Apr 19;18:422-426
pubmed: 28420865
Leukemia. 2000 Jan;14(1):216-8
pubmed: 10637500
Proc Natl Acad Sci U S A. 2001 May 8;98(10):5776-9
pubmed: 11344311
Blood. 2015 Sep 24;126(13):1575-84
pubmed: 26215111
Pediatr Blood Cancer. 2011 May;56(5):846-9
pubmed: 21370421
Pediatr Blood Cancer. 2020 Mar;67(3):e28111
pubmed: 31802626
Blood. 1991 Aug 1;78(3):748-52
pubmed: 1859887