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An unusual fusion gene EML4-ALK in a patient with congenital mesoblastic nephroma
A. Misove, A. Vicha, M. Zapotocky, J. Malis, J. Balko, T. Nemeckova, J. Szabova, M. Kyncl, D. Novakova-Kodetova, L. Stolova, P. Jencova, P. Broz, L. Krskova
Language English Country United States
Document type Journal Article, Research Support, Non-U.S. Gov't
PubMed
34378283
DOI
10.1002/gcc.22990
Knihovny.cz E-resources
- MeSH
- Fibrosarcoma diagnosis genetics pathology MeSH
- Oncogene Proteins, Fusion genetics MeSH
- In Situ Hybridization, Fluorescence MeSH
- Humans MeSH
- Nephroma, Mesoblastic diagnosis genetics pathology MeSH
- Infant, Newborn MeSH
- Proto-Oncogene Proteins c-ets genetics MeSH
- Receptor, trkC genetics MeSH
- Repressor Proteins genetics MeSH
- RNA-Seq MeSH
- Check Tag
- Humans MeSH
- Male MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
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.
References provided by Crossref.org
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- $a Misove, Adela $u Department of Pediatric Hematology and Oncology, Second Faculty of Medicine, Charles University Prague and Faculty Hospital Motol, Prague, Czech Republic $1 https://orcid.org/0000000214238867
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- $a 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.
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