Lab Test

Test Definition Number : 36
Test Definition Name : FLT3 Internal Tandem Duplication (ITD) assay
Lab Name : OHSU Knight Diagnostics Lab
Lab Test Number of THIS Version : 1146
Lab Test Name : FLT3 ITD and D835 Mutation Analysis
Status : Active
Expired : No
Updated : 2017-09-22 09:23 EDT

General Attributes

Chromosome Band : 13q12.2
HUGO Gene Name : [FLT3] fms-related tyrosine kinase 3
ICD-Oncology Code
(includes WHO classification diagnoses)
: [9840/3] Acute myeloid leukemia, M6 type
[9861/3] Acute myeloid leukemia
[9871/3] Ac. myelomonocytic leuk. w abn. mar. eosinophils
[9872/3] Acute myeloid leukemia, minimal differentiation
[9873/3] Acute myeloid leukemia without maturation
[9874/3] Acute myeloid leukemia with maturation
[9895/3] Acute myeloid leuk. with multilineage dysplasia
[9896/3] Acute myeloid leukemia, t(8;21)(q22;q22)
[9897/3] Acute myeloid leukemia, 11q23 abnormalities
[9920/3] Therapy-related acute myeloid leukemia, NOS

Infectious Disease Attributes

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

Lab-specific Attributes

Method : Electrophoresis - Capillary
Polymerase Chain Reaction (PCR)
Quantitative
Specimen Source
(for clinical patient care these sources must be validated)
: Blood - Whole Blood
Bone Marrow Aspirate
ICD-10 Code :
Use :
Genetics Category :
SNOMED CT :
LOINC :
Comments : Background: FLT3 is a receptor tyrosine kinase with important roles in hematopoietic stem cell proliferation and survival. It is mutated in approximately one-third of cases of acute myeloid leukemia, and in a subset of patients with acute lymphoblastic leukemia. Two major types of mutation bearing clinical significance have been described: internal tandem duplication (ITD) of 3 – 400 bp (always in-frame) in the juxtamembrane region, and a point mutation involving aspartate 835 of the kinase domain (KD). Since ITD mutations interfere with the negative regulatory function of the juxtamembrane region and the KD point mutations most commonly involve the activation loop, both types of mutation are responsible for constitutive activation of the receptor’s kinase activity. Current literature suggests a poorer prognosis associated with these mutations. However, knowledge of the mutation type may impact post-induction management strategy as well as identify patients who may potentially benefit from small molecule inhibitors of FLT3 that are currently in clinical trials. Clinical Utility: This test is indicated at initial diagnosis of acute myeloid leukemia, acute lymphoblastic leukemia, and myelodysplastic syndromes. It may also be indicated for re-occurrence leukemia after induction therapy on patients not initially screened for FLT3 mutations. It is intended to aid clinical risk stratification for management planning. Methodology: The ITD and D835 containing regions of the FLT3 gene are amplified. The size of the ITD PCR product is determined by capillary electrophoresis. ITD mutation is expressed as percent mutant allele burden. The D835 PCR product is digested with EcoRV and the presence of the mutation is determined by capillary electrophoresis.
Specimen Transport Requirements : 5-10mL Blood or Bone Marrow (ACD or EDTA) 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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