CALR, JAK2, and MPL Mutation Profiles in Patients With Four Different Subtypes of Myeloproliferative Neoplasms

Kim, Seon‐Young; Im, Kyongok; Park, Si Nae; Kwon, Jiseok; Kim, Jung‐Ah; Lee, Dong Hoon

doi:10.1309/ajcpuaac16liwzmm

Cited by 77 publications

(34 citation statements)

References 20 publications

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“…The JAK2V617F and CALR gene mutation rates in the ET group were significantly higher than those in the group of secondary thrombocythemia and the positive MPL mutation rate was only 4.55%. MPL lower positive mutation rate may be related to racial factors (14) and sample size. The innovation of the study is that the three kinds of genes in MPN had certain positive mutation rates based on a previous study (15).…”

Section: Discussionmentioning

confidence: 99%

Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

Qian

et al. 2017

Experimental and Therapeutic Medicine

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The aim of this study was to analyze the mutation rate of JAK2V617F, MPLW515L/K and CALR genes in adult patients with essential thrombocythemia (ET) and the accuracy of the combined detection by the receiver operating curve. Three hundred and forty-two cases with high-platelets (≥300×109/l) were consecutively selected. The patients were analyzed for routine blood examination, bone marrow biopsy and genetic testing. One hundred and fifty-four cases (45.03%) were diagnosed with ET and 188 cases of secondary thrombocythemia according to the hematopoietic and lymphoid tissue tumor classification standards of 2008. It was found that the mutant type of three genes showed three bands, whereas only one band for wild-type. The JAK2V617F and MPL mutations did not cause a change in the open reading frame and the CALR mutation resulted in its change. The mutation rate of JAK2V617F and CALR in ET group was significantly higher than that in the secondary thrombocythemia group (p<0.05). The positive mutation rate of MPL was only 4.55%. JAK2V617F-positive mutation alone was used to diagnose with ET. The area under the curve (AUC) was 0.721. The sensitivity was 72.4%, the specificity was 79.5% and the cut-off value was 0.25. When CALR-positive mutation alone was used to diagnose ET, the AUC, sensitivity, specificity and cut-off value were 0.664, 68.4, 82.4 and 0.09%, respectively. JAK2V617F combined with CALR mutation were used for diagnosis of ET. The AUC was 0.862, the sensitivity was 85.9%, the specificity was 87.8%, and the cut-off values were 0.21 and 0.07. In conclusion, the positive mutation rate of JAK2V617F and CALR in ET was higher, and the sensitivity, specificity and accuracy of the diagnosis of ET were significantly improved using the detection of JAK2V617F and CALR.

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Section: Discussionmentioning

confidence: 99%

Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

Qian

et al. 2017

Experimental and Therapeutic Medicine

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“…CALR mutations were not found in PV or acute panmyelosis with myelofibrosis. CALR and JAK2 or MPL mutations were mutually exclusive [25]. Wu et al also found two kinds of CALR mutations, c.1179_1230del and c.1234_1235insTTGTC, in Chinese patients with MPNs, and female patients showed a predisposition to CALR mutation [26].…”

Section: Discussionmentioning

confidence: 99%

The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia

Wang¹,

JianGuo²,

He³

et al. 2016

Tjh

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Objective:Calreticulin (CALR) plays important roles in cell proliferation, apoptosis, and immune responses. CALR mutations were described recently in Janus kinase 2 gene (JAK2)-negative or MPL-negative primary myelofibrosis (PMF) and essential thrombocythemia (ET) patients. CALR trails JAK2 as the second most mutated gene in myeloproliferative neoplasms (MPNs). However, little is known about CALR mutation in Chinese patients with leukemia. In the present study, a cohort of 305 Chinese patients with hematopoietic neoplasms was screened for CALR mutations, with the aim of uncovering the frequency of CALR mutations in leukemia and MPNs.Materials and Methods:Polymerase chain reaction and direct sequencing were performed to analyze mutations of CALR in 305 patients with hematopoietic malignancies, including 135 acute myeloid leukemia patients, 57 acute lymphoblastic leukemia patients, and 113 MPN patients.Results:CALR mutations were found in 10.6% (12 of 113) of samples from patients with MPNs. CALR mutations were determined in 11.3% (6 of 53), 21.7% (5 of 23), and 9.1% (1/11) of patients with ET, PMF, and unclassifiable MPN, respectively.Conclusion:We showed that MPN patients carrying CALR mutations presented with higher platelet counts and lower hemoglobin levels compared to those with mutated JAK2. However, all of the leukemia patients had negative results for CALR mutations.

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“…Driver mutations were observed in very similar frequencies to those published in the Korean population. 5 Regarding ASXL1, we have detected 9 rare sequence variants including 2 novels not previously reported in the literature.…”

Section: Identification Of Driver and Subclonal Mutations In Asxl1 Anmentioning

confidence: 77%

Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis

Scheps

Meyer

Bestach

et al. 2018

Int J Lab Hematology

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CALR, JAK2, and MPL Mutation Profiles in Patients With Four Different Subtypes of Myeloproliferative Neoplasms

Abstract: The prognostic significance of CALR mutations likely differs among the MPN subtypes.

Cited by 77 publications

References 20 publications

Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

Significance of combined detection of JAK2V617F, MPL and CALR gene mutations in patients with essential thrombocythemia

The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia

Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis

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