Rekord LOINC: 94076-7

Tumor mutation/mutational burden (TMB), also known as mutation load, is a biomarker for various cancer types to identify patients who will benefit from immunotherapy, such as immune checkpoint blockade (ICB) therapy.[PMID: 30395155] Various quantitative and ordinal results may be reported, so it is important to distinguish the type of results when mapping to LOINC. Quantitative results typically include the number of mutations detected per megabase (mut/Mb), often by NGS, in a tumor specimen (this term). The mutations targeted may include non-synonymous or both synonymous and non-synonymous mutations. An ordinal TMB result [LOINC: 94077-5] of high, low, etc., may also be reported to provide an overall interpretation for the quantitative value (muts/Mb). We encourage labs to report how results are determined or calculated in either the structured message format or using another LOINC.

Cancer; Mb; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Mut; Mutation; Muts; Muts/Mb; Number ratio; Point in time; QNT; Quan; Quant; Quantitative; Random; TMB; Tumor mutation burden; Tumor mutational load; tumors; tumour; tumours