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CALR Type 1 / Type 2 Mutation Analysis by Next Generation Sequencing

Test Code

M CALR

Test Synonyms

Calreticulin Exon 9; Chromosome 19p13.3-13.2

Associations

Essential thrombocythemia (ET) – 67% of JAK2 and MPL negative cases
Primary myelofibrosis (PMF) –88% of JAK2 and MPL negative cases

Reflex testing
May be of interest to further evaluate involvement by Primary Myelofibrosis or Essential Thrombocythemia if JAK2 V617F is negative
Methodology

Next Generation Sequencing of CALR genes; TruSight Myeloid (TSM) assay (Illumina, 2016)

Turnaround Time

7-10 days

Specimen Requirements

5.0 mL (min. 1.0 mL) whole blood EDTA preferred, heparin whole blood accepted
3.0 mL (min. 1.0 mL) bone marrow aspirate EDTA preferred, heparin accepted

Specimen Stability
EDTA whole blood or bone marrow stable at room temperature (18-25°C)
Storage & Handling

Whole blood and bone marrow ship in a Styrofoam container with a cool pack. (Do not allow cool/refrigerated pack to directly contact sample

Causes for Rejection

Insufficient DNA content; Insufficient specimen volume; Specimen at incorrect temperature; Incorrect anticoagulant

Reference Range

Please provide

Description

CALR somatic mutations are seen in a subset of patients with MPNs who lack JAK2 and MPL mutations. CALR mutations appear restricted to patients with ET and PMF and are not found in patients with polycythemia vera.

CALR mutated ET and PMF are associated with increased overall survival when compared with JAK2 and MPL mutated ET/PMF. CALR mutated ET is associated with a decreased incidence of thrombosis when compared to JAK2 mutated E

References
  1. Arber et al. (2106).  The 2016 revision to the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia.  Blood. 2016 May 19;127(20):2391-405
  2. Vainchenker W, Kralovics R. (2017) Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms.  Blood. 2017 Feb 9;129(6):667-679
  3. Klampfl T. et al. 2013. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med.Dec 9;369(25):2379-90
  4. Nangalia J. et al. 2013. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.N Engl J Med,Dec 19;369(25):2391-405
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