{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nAmong the collection of studies provided, only one directly implicates a member of the NUTM2 family—referenced as NUTM2B/E and here considered equivalent to NUTM2E—in a pathogenic context. In clear cell sarcoma of the kidney, a recurrent chromosomal translocation, t(10;17)(q22;p13), creates a fusion transcript between YWHAE and NUTM2B/E. While the normal cellular function of the NUTM2E component remains largely uncharacterized, its involvement in the fusion suggests that it may contribute to oncogenic processes by dysregulating signaling pathways that normally control cell growth, differentiation, and survival. The study noted that tumors harboring this fusion appear in very young patients and exhibit distinct tumor volumes and clinical stages, although no explicit phenotype was defined due to the limited number of cases. This discovery points to a potential role for the NUTM2 portion of the fusion in aberrant cell signaling—a hypothesis that now awaits further mechanistic and clinical investigation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Saskia L Gooskens, Colin Kenny, Antonio Lazaro, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The clinical phenotype of YWHAE-NUTM2B/E positive pediatric clear cell sarcoma of the kidney."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Chromosomes Cancer (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/gcc.22320"}], "href": "https://doi.org/10.1002/gcc.22320"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26542179"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26542179"}]}]}]}