KMT2A-MLLT1 and the Novel SEC16A-KMT2A in a Cryptic 3-Way Translocation t(9;11;19) Present in an Infant With Acute Lymphoblastic Leukemia.
Child
Endoplasmic Reticulum
/ metabolism
Golgi Apparatus
/ metabolism
Humans
Infant
Myeloid-Lymphoid Leukemia Protein
/ genetics
Neoplasm Proteins
/ genetics
Nuclear Proteins
/ genetics
Precursor Cell Lymphoblastic Leukemia-Lymphoma
/ genetics
Transcription Factors
/ genetics
Translocation, Genetic
Vesicular Transport Proteins
Journal
Journal of pediatric hematology/oncology
ISSN: 1536-3678
Titre abrégé: J Pediatr Hematol Oncol
Pays: United States
ID NLM: 9505928
Informations de publication
Date de publication:
01 04 2022
01 04 2022
Historique:
received:
13
07
2021
accepted:
20
11
2021
pubmed:
31
12
2021
medline:
20
4
2022
entrez:
30
12
2021
Statut:
ppublish
Résumé
About 25% of the patients with the translocation t(11;19)(q23;p13.3)/KMT2A-MLLT1 present three-way or more complex fusions, associated with a worse prognosis, suggesting that a particular mechanism creates functional KMT2A fusions for this condition. In this work, we show a cryptic three-way translocation t(9;11;19). Interestingly, long-distance inverse polymerase chain reaction sequencing revealed a KMT2A-MLLT1 and the yet unreported out-of-frame SEC16A-KMT2A fusion, associated with low SEC16A expression and KMT2A overexpression, in an infant with B-acute lymphoblastic leukemia presenting a poor prognosis. Our case illustrates the importance of molecular cytogenetic tests in selecting cases for further investigations, which could open perspectives regarding novel therapeutic approaches for poor prognosis childhood leukemias.
Identifiants
pubmed: 34966090
doi: 10.1097/MPH.0000000000002386
pii: 00043426-202204000-00030
doi:
Substances chimiques
MLLT1 protein, human
0
Neoplasm Proteins
0
Nuclear Proteins
0
SEC16A protein, human
0
Transcription Factors
0
Vesicular Transport Proteins
0
Myeloid-Lymphoid Leukemia Protein
149025-06-9
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
e719-e722Informations de copyright
Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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