Version 2.78

Description

Chromosome region 4q12 rearrangements are associated with myeloid and lymphoid neoplasms due to disruption of the PDGFRA and/or FGFR1 genes. Patients with rearrangement(s) involving PDGFRA most commonly present with chronic eosinophilic leukemia but also can present as acute myeloid leukemia (AML) and/or T-lymphoblastic leukemia/lymphoma (T-ALL). Patients with FGFR1 involvement have various presentations including AML, T- or B-lymphoblastic leukemia/lymphoma (B-ALL), or a mixed phenotype acute leukemia. Imatinib mesylate (imatinib) is the first-line therapy for patients with abnormalities of PDGFRA, whereas patients with FGFR1 fusions are resistant to this therapy and carry a poor prognosis. PMID: 23489324 Source: Regenstrief LOINC

Basic Part Properties

Part Display Name
4q12 chromosome region rearrangements
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-03-09
Construct for LOINC Short Name
4q12 rearrange

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP189752-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) 4q12 染色体区域重排
Synonyms: 4q12 染色体区域（染色体部位、染色体区、染色体区带、染色体部）重排
es-ES Spanish (Spain) reordenamientos cromosoma 4q12
it-IT Italian (Italy) Riorganizzazioni della regione cromosomica 4q12
tr-TR Turkish (Turkey) 4q12 Kromozom bölgesi yeniden düzenleme
nl-NL Dutch (Netherlands) 4q12-chromosoomgebied translocaties
Synonyms: 4q12-chromosoom gebied translocaties
pl-PL Polish (Poland) Rearanżacja regionu chromosomu 4q12