An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma.
Fibrosarcoma
/ diagnosis
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Nephroma, Mesoblastic
/ diagnosis
Oncogene Proteins, Fusion
/ genetics
Proto-Oncogene Proteins c-ets
/ genetics
RNA-Seq
Receptor, trkC
/ genetics
Repressor Proteins
/ genetics
ETS Translocation Variant 6 Protein
ALK fusion
RNAseq
congenital mesoblastic nephroma
infantile fibrosarcoma
methylation profiling
Journal
Genes, chromosomes & cancer
ISSN: 1098-2264
Titre abrégé: Genes Chromosomes Cancer
Pays: United States
ID NLM: 9007329
Informations de publication
Date de publication:
12 2021
12 2021
Historique:
revised:
03
08
2021
received:
21
04
2021
accepted:
04
08
2021
pubmed:
12
8
2021
medline:
16
3
2022
entrez:
11
8
2021
Statut:
ppublish
Résumé
Congenital mesoblastic nephroma (CMN), the most common renal tumor of infancy, is a mesenchymal neoplasm histologically classified into classic, cellular, or mixed types. Most cellular CMNs harbor a characteristic ETV6-NTRK3 fusion. Here, we report an unusual congenital mesoblastic nephroma presenting in a newborn boy with a novel EML4-ALK gene fusion revealed by Anchored Multiplex RNA Sequencing Assay. The EML4-ALK gene fusion expands the genetic spectrum implicated in the pathogenesis of congenital mesoblastic nephroma, with yet another example of kinase oncogenic activation through chromosomal rearrangement. The methylation profile of the tumor corresponds with infantile fibrosarcoma showing the biological similarity of these two entities.
Substances chimiques
EML4-ALK fusion protein, human
0
NTRK3 protein, human
0
Oncogene Proteins, Fusion
0
Proto-Oncogene Proteins c-ets
0
Repressor Proteins
0
Receptor, trkC
EC 2.7.10.1
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
837-840Informations de copyright
© 2021 Wiley Periodicals LLC.
Références
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