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Test ID CSF3R CSF3R Exon 14 and 17 Mutation Detection by Sanger Sequencing

Useful For

Evaluation and classification of chronic neutrophilia

 

Aids in the diagnosis of chronic neutrophilic leukemia (CNL)

 

Mutation identification may suggest the class of kinase inhibitor to which the neoplasm may be sensitive.

Method Name

Mutation Detection in DNA Using Sanger Sequencing

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc)

Reporting Name

CSF3R Exon 14/17 Mutation Detection

Specimen Type

Varies

The following information is required:

1. Pertinent clinical history

2. Clinical or morphologic suspicion

3. Date of collection

4. Specimen source

 

Forms:

1. Hematopathology Patient Information (T676) in Special Instructions

2. If not ordering electronically, complete, print, and send a Hematopathology/Cytogenetics Test Request Form (T726) with the specimen (www.mayomedicallaboratories.com/media/customer-service/forms/hematopathology-request-form.pdf).

 

Specimen must arrive within 240 hours (10 days) of collection.

 

Submit only 1 of the following specimens:

 

Specimen Type: Blood

Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)

Specimen Volume: 3 mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send specimen in original tube.

3. Label specimen as blood.

 

Specimen Type: Bone marrow aspirate

Container/Tube: Lavender top (EDTA) or yellow top (ACD solution B)

Specimen Volume: 2 mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send specimen in original tube.

3. Label specimen as bone marrow.

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of the DNA

Specimen Volume: Entire specimen

Collection Instructions: Label specimen as extracted DNA from blood or bone marrow.

 

Specimen Type: Paraffin-embedded tissue

Container/Tube: Paraffin block

 

Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

 

Specimen Type: Paraffin-embedded bone marrow aspirate clot

Container/Tube: Paraffin block

 

Specimen Type: Unstained Slides

Container/Tube: Unstained tissue slides

Specimen Volume: 10 slides

Specimen Minimum Volume

Blood, Bone Marrow: 1 mL; Extracted DNA: 20 mcL

Specimen Stability Information

Specimen Type Temperature Time
Varies Ambient (preferred) 10 days
  Refrigerated  10 days

Clinical Information

CSF3R encodes the receptor for colony-stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. Somatic CSF3R mutations were recently described in 50% to 80% of chronic neutrophilic leukemia (CNL) patients. Their association with atypical chronic myelogenous leukemia (aCML) remains controversial. They have also been reported as somatic events in severe congenital neutropenia (SCN) patients.

 

There are 2 types of CSF3R mutations: extracellular domain/membrane proximal point mutations (most commonly p.T618I) and cytoplasmic tail truncation mutations. They demonstrated sensitivity to JAK kinase inhibitors and Src kinase inhibitors, respectively, in in vitro assays. In CNL, the most common mutation is p.T618I, although cytoplasmic truncation mutation can also occur. Somatic cytoplasmic truncation mutations have been reported in approximately 30% of SCN patients and 80% of SCN patients with leukemic transformation, who are often on granulocyte-colony stimulating factor (GCSF) therapy. However, their role in leukemic transformation is uncertain.

Reference Values

An interpretive report will be provided

Cautions

The assay is performed using Sanger sequencing, which has a sensitivity of 20%. This means that 20% or more of the DNA in the sample must be mutated to be detected.

 

A positive result can be seen in chronic neutrophilic leukemia (CNL). However, it is not specific for this neoplasm and clinicopathologic correlation is necessary in all cases.

 

A negative result does not exclude the presence of a CNL, other myeloproliferative neoplasms, or other hematologic or nonhematologic neoplasms.

Day(s) Performed

Monday through Friday

Report Available

5 days

Performing Laboratory

Mayo Medical Laboratories in Rochester

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

81479 – Unlisted molecular pathology procedure

NY State Approved

Submitted