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. READ ARTICLE
Genes Chromosomes & Cancer DOI:10.1002/gcc.22990
Authors: Adela Misove, Ales Vicha, Michal Zapotocky, Josef Malis, Jan Balko, Tereza Nemeckova, Jana Szabova, Martin Kyncl, Daniela Novakova-Kodetova, Lucie Stolova, Pavla Jencova, Petr Broz, Lenka Krskova