Version 2.80

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 Name
4q12 chromosome region rearrangements
Part Display Name
4q12 chromosome region rearrangements
Part Type
Component (Describes the core component or analyte measured)
Created On
2015-03-08
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
tr-TR Turkish (Turkey) 4q12 Kromozom bölgesi yeniden düzenleme
es-ES Spanish (Spain) reordenamientos cromosoma 4q12
it-IT Italian (Italy) Riorganizzazioni della regione cromosomica 4q12
nl-NL Dutch (Netherlands) 4q12-chromosoomgebied translocaties
Synonyms: 4q12-chromosoom gebied translocaties
pl-PL Polish (Poland) Rearanżacja regionu chromosomu 4q12
el-GR Greek (Greece) Αναδιατάξεις χρωμοσωμικής περιοχής 4q12
Synonyms: Αναδιατάξεις χρωμοσωμικής περιοχής 4q12