Version 2.78

Term Description

Tumor 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. Testing can be performed by whole exome sequencing (WES) or next-generation sequencing (NGS). 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 [LOINC: 94076-7]. The mutations targeted may include non-synonymous or both synonymous and non-synonymous mutations. Quantitative TMB results have also been reported as the total number of mutations detected by whole exome sequencing (WES). We encourage labs to report how results are determined or calculated in either the structured message format or using another LOINC. An ordinal TMB result (this term) of high, low, etc., may also be reported to provide an overall interpretation for the quantitative value (muts/Mb). Cut-offs vary across assays and for each tumor type, so it is important to know which assay was used to determine the overall ordinal TMB result.
Source: Regenstrief LOINC

Fully-Specified Name

Component
Tumor mutation burden
Property
Imp
Time
Pt
System
Tumor
Scale
Ord
Method

Additional Names

Short Name
TMB Tumor-Imp
Display Name
Tumor mutation burden Ql (Tumor) [Interp]
Consumer Name Alpha Get Info
Tumor mutation burden, Tumor

Example Answer List: LL2160-1

Source: Regenstrief LOINC
Answer Code Score Answer ID
Low LA9194-7
High LA9193-9

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.67
Last Updated
Version 2.67
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Carga de mutación tumoral:Impresión/interpretación del estudio:Punto temporal:Tumor:Ord:
es-MX Spanish (Mexico) Carga de mutación tumoral:Impresión / interpretación del estudio:Punto temporal:Tumor:Ordinal:
fr-FR French (France) Charge tumorale mutationnelle (TMB):Interprétation:Ponctuel:Tumeur:Qualitatif:
it-IT Italian (Italy) Tumore, mutazione del carico:Imp:Pt:Tumore:Ord:
Synonyms: Impressione/interpretazione di studio Mutazione genica Neoplasia Patologia molecolare Punto nel tempo (episodio)
zh-CN Chinese (China) 肿瘤突变负荷:印象:时间点:肿瘤:序数型:
Synonyms: 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 印象是一种诊断陈述，始终是对其他某种观察指标的解释或抽象（一系列检验项目结果、一幅图像或者整个某位病人），而且几乎总是由某位专业人员产生。;检查印象;检查印象/解释;检查的印象/解释;检查解释;解释;阐释 时刻;随机;随意;瞬间 瘤;肿块;赘生物 肿瘤突变负担;TMB

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=94077-5