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. 2022 Mar 2;6:e2100286. doi: 10.1200/PO.21.00286

FIG 1.

FIG 1.

Prevalence and mutational burden of synchronous and metachronous cancers in patients with CMMRD. (A-D) Tumor burden in 106 patients with CMMRD. (A) Patients with a single lethal tumor (n = 33; 31%; X = deceased) and (B) patients with a single tumor to date (n = 21; 20%). (C) Patients with metachronous tumors (n = 26; 24.5%) and (D) synchronous tumors (n = 26; 24.5%). (E) TMB for individual CMMRD patients with synchronous and metachronous tumors (n = 38 tumors from 17 patients). (F) TMB of all synchronous and metachronous MMR-deficient cancers compared with MMR-proficient pediatric cancers. (G) MS-indel burden in exomes of all synchronous and metachronous MMR-deficient cancers compared with MMR-proficient pediatric cancers (all genomic data were derived from WES of tumors). CMMRD, constitutional mismatch repair deficiency syndrome; DX1, first cancer diagnosis; DX2, second cancer diagnosis; MMR, DNA mismatch repair; MMRD, mismatch repair deficiency; MS-indels, microsatellite indels; NA, not available; TMB, tumor mutation burden; WES, whole-exome sequencing.