Detection of<i>CALR</i>Mutation in Clonal and Nonclonal Hematologic Diseases Using Fragment Analysis and Next-Generation Sequencing

Gardner, Juli-Anne; Peterson, Julie; Turner, Scott A.; Soares, Barbara L.; Lancor, Courtney R.; Santos, Luciana Lara dos; Kaur, Prabhjot; Ornstein, Deborah L.; Tsongalis, Gregory J.; Abreu, Francine B. de

doi:10.1093/ajcp/aqw129

Cited by 10 publications

(6 citation statements)

References 27 publications

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“…Besides demonstrating JAK2 V617F acquired mutation, Klampfl et al [10] and Nangalia et al [11] demonstrated that the exon 9 of CALR coding sequence is exclusively mutated in approximately 70% of MPN patients who have negative results for JAK2 mutations. Interestingly, it was evident that CALR mutations are not present in PV, suggesting the utility of CALR mutations analysis for molecular classification of MPN [7,10,[25][26][27]. Similar to previous studies (Table 3) [17,25,28], we could detect 14% (8/58) of ET patients harboring CALR exon 9 frameshift mutations.…”

Section: Discussionsupporting

confidence: 86%

Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients

et al. 2017

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Section: Discussionsupporting

confidence: 86%

Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients

et al. 2017

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“…Also, some researchers observed a lower frequency of JAK2 V617F mutation (31%) [18] and (35.7%) [19]. In the current series, the frequency of CALR (22%) is consistent with earlier reports [15,[20][21][22][23][24] but, higher than previous reports from Korea (17.7 %) [8], and Italy (14%) [25]. In concern to MPL W515L mutation, our observation (16.4%) is higher than earlier records that ranged from 1% to 14% [18,[25][26][27][28][29][30].…”

Section: Discussionsupporting

confidence: 91%

Prevalence of JAK2 V617F, CALR, and MPL W515L Gene Mutations in Patients with Essential Thrombocythemia in Kurdistan Region of Iraq

Saeed¹,

Getta

Khoshnaw³

et al. 2021

Korean J Clin Lab Sci.

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Essential thrombocythemia (ET) is a clonal bone marrow stem cell disorder, primarily involving the megakaryocytic lineage. The WHO 2016 guidelines include the molecular detection of JAK2, MPL, and CALR mutations as a major diagnostic criterion for ET. This study aimed to determine the frequency of JAK2 V617F, MPL W515L, and CALR mutations in Iraqi Kurdish patients afflicted with ET, and to analyze their clinical and hematological features. A total of 73 Iraqi Kurdish patients with ET were enrolled as subjects, and analysis was achieved utilizing real-time PCR. The frequency of JAK2 V617F, CALR, and MPL W515L mutations was determined to be 50.7%, 22%, and 16.4%, respectively. No statistically significant difference was obtained when considering the age and gender among different genotypes. The JAK2 V617F mutated patients had significantly higher white blood cell counts and hemoglobin levels than the CALR-positive patients (P-value=0.000, 0.007, respectively), MPL W515L-positive patients (P-value=0.000, 0.000, respectively), and triple negative patients (P-value=0.000, 0.000, respectively). Also, the JAK2 V617F mutated patients showed higher platelet count as compared to the MPL W515L-positive patients (P-value=0.02) and triple negative patients (P-value=0.04). Furthermore, significantly lower white blood cell count and hemoglobin levels were associated with CALR positivity (P-value=0.000, 0.01, respectively), MPL W515L-positivity (P-value=0.001, 0.000, respectively), and triple negativity (P-value=0.000, 0.000, respectively), as compared to patients with combined mutations. In conclusion, apart from a relatively high frequency of MPL W515L mutation, our data is comparable to earlier reports, and highlights the importance of genotyping the JAK2 V617F, MPL W515L, and CALR mutations for accurate diagnosis of patients with ET.

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“…In their combined measurement, an OR of 3.5 was obtained (95% CI = 1.6–7.7). Eight studies used the WHO 2008 criteria [41, 48–51, 54, 62, 66], for which an OR of 4.7 (95% CI = 3.1–7.5) was found. Three studies used WHO 2008 criteria and AS-PCR, and their combined measurement was an OR of 3.8 (95% CI = 1.6–8.3).…”

Section: Resultsmentioning

confidence: 99%

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000–2018

2019

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Background Research into Philadelphia-negative chronic myeloproliferative neoplasms is heterogeneous. In addition, no systematization of studies of polycythemia vera (PV), essential thrombocythemia (ET) or primary myelofibrosis (PMF) have been carried out. The objective of this review is to characterize studies on BCR-ABL1 -negative chronic myeloproliferative neoplasms and to compare the frequency of JAK2, MPL and CALR mutations in PV, ET and PMF. Method A systematic review of the scientific literature was conducted, as was meta-analysis with an ex-ante selection of protocol, according to phases of the PRISMA guide in three interdisciplinary databases. To guarantee reproducibility in the pursuit and retrieval of information, the reproducibility and methodological quality of the studies were evaluated by two researchers. Results Fifty-two studies were included, the majority having been carried out in the United States, China, Brazil and Europe. The frequency of the JAK2V617F mutation ranged from 46.7 to 100% in patients with PV, from 31.3 to 72.1% in patients with ET, and from 25.0 to 85.7% in those with PMF. The frequency of the MPL mutation was 0% in PV, from 0.9 to 12.5% in ET, and from 0 to 17.1% in PMF. The CALR mutation occurred at a frequency of 0.0% in PV, whereas in ET, it ranged from 12.6 to 50%, and in PMF, it ranged from 10 to 100%. The risk of this mutation presenting in PV is 3.0 times that found for ET and 4.0 times that found for PMF. Conclusion Given the specificity and reported high frequencies of the JAK2V617F, MPL and CALR mutations in this group of neoplasms, the diagnosis of these diseases should not be made on clinical and hematological characteristics alone but should include genetic screening of patients.

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Detection ofCALRMutation in Clonal and Nonclonal Hematologic Diseases Using Fragment Analysis and Next-Generation Sequencing

Cited by 10 publications

References 27 publications

Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients

Clinical and hematological relevance of JAK2 V617F and CALR mutations in BCR-ABL-negative ET patients

Prevalence of JAK2 V617F, CALR, and MPL W515L Gene Mutations in Patients with Essential Thrombocythemia in Kurdistan Region of Iraq

Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2, CALR and MPL mutations: 2000–2018

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