Version 2.78

Description

The ALK gene encodes for the protein anaplastic lymphoma kinase (ALK) (also known as ALK tyrosine kinase receptor or CD246), and the NPM1 gene encodes for the protein nucleophosmin (also known as nucleolar phosphoprotein B23 or numatrin). PMID: 29455642 The 2;5 chromosomal translocation is associated with approximately 60% anaplastic large-cell lymphomas (ALCLs). The translocation creates a fusion gene consisting of the ALK (anaplastic lymphoma kinase) gene and the nucleophosmin (NPM) gene: the 3' half of ALK, derived from chromosome 2 and coding for the catalytic domain, is fused to the 5' portion of NPM from chromosome 5. The product of the NPM-ALK fusion gene is oncogenic. PMID: 17519389 Source: Regenstrief LOINC

Basic Part Properties

Part Name
t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript
Part Display Name
t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript
Part Type
Component (Describes the core component or analyte measured)
Created On
2016-09-13
Construct for LOINC Short Name
t(2;5)(p23;q35.1)(ALK,NPM1) fusion transcript

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP229750-7

Language Variants Get Info

Tag Language Translation
fr-CA French (Canada) t(2;5)(p23;q35.1)(ALK,NPM1) transcrit de fusion