Version 2.78

Description

Chronic myelogenous leukemia (CML), acute lymphoblastic leukemia (ALL), and acute myeloid leukemia (AML) are associated with the fusion of the breakpoint cluster gene (BCR) at chromosome 22q11 to the Abelson gene (ABL1) at chromosome 9q23. The t(9;22)(BCR-ABL1) gene translocation leads to the cytogenetic finding known as the Philadelphia chromsome (Ph'). Various breakpoints within the BCR and ABL1 genes have been described. Most cases of CML are due to a fusion of BCR exon 13 (e13 or b2) or BCR exon 14 (e14 or b3) to the ABL exon 2 (a2). The b2a2 (e13a2) and b3a2 (e14a2) fused transcripts, also known as major break points, produce a 210-kDa protein (p210). The fused transcript resulting in a 190-kDa protein (e1a2 or less common e1a3), also known as minor break points, is found in approximately 75% of childhood ALL patients and 50% of adult ALL patients. Other rarely reported fused transcripts include e6a2, e19a2 (p230), e13a3, and e14a3. Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
t(9;22)(q34.1;q11)(ABL1,BCR)
Part Type
Component (Describes the core component or analyte measured)
Created On
2012-05-17
Construct for LOINC Short Name
t(9;22)(ABL1,BCR)

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP150238-6

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) t(9;22)(q34.1;q11)(ABL1,BCR)
Synonyms: 易位(9;22)(q34.1;q11)(ABL1,BCR)
es-ES Spanish (Spain) t(9;22)(q34.1;q11)(ABL1,BCR)
it-IT Italian (Italy) t(9;22)(q34.1;q11)(ABL1,BCR)
tr-TR Turkish (Turkey) t(9;22)(q34.1;q11)(ABL1,BCR)
ru-RU Russian (Russian Federation) t(9;22)(q34.1;q11)(ABL1,BCR)
nl-NL Dutch (Netherlands) t(9;22)(q34.1;q11)(ABL1,BCR)
fr-CA French (Canada) t(9;22)(q34.1;q11)(ABL1,BCR)