Lab Test

Test Definition Number : 233
Test Definition Name : CEBPA sequence analysis
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1177
Lab Test Name : CEBPA Mutation Analysis
Status : Active
Expired : No
Updated : 2018-01-28 07:41 EST

General Attributes

Chromosome Band : 19q13.11
HUGO Gene Name : [CEBPA] CCAAT/enhancer binding protein (C/EBP), alpha
ICD-Oncology Code
(includes WHO classification diagnoses)
:

Infectious Disease Attributes

Agent Category :
Non-virus Genus and Species :
Virus Family, Genus, and Species :

Lab-specific Attributes

Method : Sequencing - Sanger - Bi-directional
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
Solid Tissue Paraffin-Embedded Formalin-Fixed
ICD-10 Code :
Use :
Genetics Category : Acquired (somatic)
SNOMED CT :
LOINC :
Comments : Background: Mutations in the CCAAT/enhancer binding protein-alpha (CEBPA) gene are associated with a relatively favorable prognosis in adult and pediatric patients with normal cytogenetic AML, similar to that of patients with mutant NPM1 without FLT3-ITD. Approximately 5-10% of AML patients possess CEBPA mutations, mainly in the M1 and M2 sub-types. The CEBPA protein is a member of the leucine zipper (LZ) transcription factor family and is a critical regulator of granulopoiesis. Two main types of mutations have been identified in AML – nonsense mutations in the N-terminal region that prevent expression of full-length protein resulting in a truncated isoform which acts as a dominant negative inhibitor, and in-frame mutations in the C-terminal leucine zipper domain with decreased DNA binding and dimerization properties. The CEBPA mutations characterized involve a heterogeneous array of insertions, deletions, and point mutations. A minority of cases of AML without CEBPA mutations show silencing of the gene by promoter hypermethylation. Clinical Utility: AML patients with a mutation in the CCAAT/enhancer binding protein-alpha (CEBPA) gene (without a corresponding FLT3 gene mutation) have a relatively favorable prognosis. Thus, a knowledge of the CEBPA mutation status, in combination with cytogenetics, the status of other gene mutations (FLT3, NPM, DNMT3A, IDH, etc.), and clinical parameters, together allow a comprehensive assessment of AML prognostic risk and help inform appropriate management strategy. Methodology: CEBPA mutations are heterogeneous in nature and have widespread localization. Therefore, we have developed an assay based on the work of Pabst et al. (2001) to sequence the entire coding region in all AML patients. The CEBPA gene does not contain introns, making sequencing of the full gene more easily accomplished. Additionally, we will continue to monitor the literature and compile a database of known polymorphisms to aid in their distinction from mutations. Analytical Sensitivity: Approximately 20% mutant allele.
Specimen Transport Requirements : 5-10mL Blood or Bone Marrow (ACD or EDTA) Paraffin block or 10 unstained sections (4-5 micron) Due to DNA damage, decalcified specimens are not recommended. Package and ship specimens to remain cold, but not frozen. Ship via overnight express. Contact Client Services at (855) 535-1522 for shipping kits and instructions.
Samples Available for Proficiency Test Sample Exchange : Yes

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