ArticleAnnals of laboratory medicine2016
Screening PCR Versus Sanger Sequencing: Detection of CALR Mutations in Patients With Thrombocytosis.
Article in Annals of laboratory medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Concordance Between Fragment Analysis and Next-Generation Sequencing in Identification of Non-Standard CALR Indels.International journal of laboratory hematology · 2026Article
- The molecular management of classic myeloproliferative neoplasm.Journal of the Egyptian National Cancer Institute · 2025Review
- Molecular Profile of BCR-ABL1 Negative Myeloproliferative Neoplasm in a Moroccan Population.Asian Pacific journal of cancer prevention : APJCP · 2024Article
- Essential Thrombocythemia: One-Center Data in a Changing Disease.Medicina (Kaunas, Lithuania) · 2022Article
- Validation and advantages of using novel RT-qPCR melting curve analysis assays for the identification of SARS-CoV-2 variants.Scientific reports · 2022Article
- Production and Characterization of Peptide Antibodies to the C-Terminal of Frameshifted Calreticulin Associated with Myeloproliferative Diseases.International journal of molecular sciences · 2022Article
- Clinical and Laboratory Features of JAK2 V617F, CALR, and MPL Mutations in Malaysian Patients with Classical Myeloproliferative Neoplasm (MPN).International journal of environmental research and public health · 2021Article
- JAK2, CALR, and MPL Mutation Profiles in BCR-ABL Negative Myeloproliferative Neoplasms, a Referral Center Experience in the Middle East.Iranian journal of pathology · 2021Article
- The effects of mutational profiles on phenotypic presentation of myeloproliferative neoplasm subtypes in Bosnia: 18 year follow-up.Bosnian journal of basic medical sciences · 2020Article
- JAK2, CALR, and MPL Mutation Profiles in Colombian patients with BCR-ABL Negative Myeloproliferative Neoplasms.Colombia medica (Cali, Colombia)Article
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations 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.
methodsEighty-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.
resultsThe 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.
conclusionsThis screening PCR is a rapid, sensitive, and cost-effective method for the detection of major CALR mutations.
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