Jinjun Cheng

TL;DR: Focusing on the therapeutically challenging diffuse LGGs, this study of 151 tumors has discovered genetic alterations and potential therapeutic targets across the entire range of pediatric L GGs and LGGNTs.

TL;DR: A recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the coding region of CRLF2 is reported.

TL;DR: A marked variation in the frequency of gene mutations is demonstrated across 21 different paediatric cancer subtypes, with the highest frequency of mutations detected in high-grade gliomas, T-lineage acute lymphoblastic leukaemia and medulloblastoma, and a paucity of mutations in low- grade glioma and retinoblastomas.

TL;DR: A new heterozygous germline variant, c.547G>A (p.Gly183Ser), affecting the octapeptide domain of PAX5 that was found to segregate with disease in two unrelated kindreds with autosomal dominant B-ALL is reported, implicate PAX5 in a new syndrome of susceptibility to pre-B cell neoplasia.

TL;DR: Outside of signaling alterations, RUNX1-RUNX1T1 and CBFB-MYH11 AMLs demonstrated remarkably different spectra of cooperating mutations, while highlighting dramatic differences in the landscapes of cooperate mutations for these related AML subtypes.