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Screening PCR Versus Sanger Sequencing: Detection of CALR Mutations in Patients With Thrombocytosis.

Abstract：

BACKGROUND:Mutations in calreticulin (CALR) have been reported to be key markers in the molecular diagnosis of myeloid proliferative neoplasms. In most previous reports, CALR mutations were analyzed by using Sanger sequencing. Here, we report a new, rapid, and convenient system for screening CALR mutations without sequencing. METHODS:Eighty-three bone marrow samples were obtained from 81 patients with thrombocytosis. PCR primers were designed to detect wild-type CALR (product: 357 bp) and CALR with type 1 (product: 302 bp) and type 2 mutations (product: 272 bp) in one reaction. The results were confirmed by Sanger sequencing and compared with results from fragment analysis. RESULTS:The minimum detection limit of the screening PCR was 10 ng for type 1, 1 ng for type 2, and 0.1 ng for cases with both mutations. CALR type 1 and type 2 mutants were detected with screening PCR with a maximal analytical sensitivity of 3.2% and <0.8%, respectively. The screening PCR detected 94.1% (16/17) of mutation cases and showed concordant results with sequencing in the cases of type 1 and type 2 mutations. Sanger sequencing identified one novel mutation (c.1123_1132delinsTGC). Compared with sequencing, the screening PCR showed 94.1% sensitivity, 100.0% specificity, 100.0% positive predictive value, and 98.5% negative predictive value. Compared with fragment analysis, the screening PCR presented 88.9% sensitivity and 100.0% specificity. CONCLUSIONS:This screening PCR is a rapid, sensitive, and cost-effective method for the detection of major CALR mutations.

journal_name

Ann Lab Med

journal_title

Annals of laboratory medicine

authors

Jeong JH,Lee HT,Seo JY,Seo YH,Kim KH,Kim MJ,Lee JH,Park J,Hong JS,Park PW,Ahn JY

doi

10.3343/alm.2016.36.4.291

subject

Has Abstract

pub_date

2016-07-01 00:00:00

pages

291-9

issue

4

eissn

2234-3806

issn

2234-3814

pii

36.291

journal_volume

36

pub_type

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