Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms

Guo, Haixiu; Chen, Xiuhua; Tian, Ruiyuan; Chang, Jianmei; Li, Jianlan; Tan, Yanhong; Xu, Zhifang; Ren, Fanggang; Zhao, Jing; Pan, Jie; Zhang, Na; Wang, Xiaojuan; He, Jianxia; Yang, Wanfang; Wang, Hongwei

doi:10.1371/journal.pone.0138250

Cited by 7 publications

(8 citation statements)

References 30 publications

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“…The patients with CALR1 and CALR2 mutations displayed the similar leukocyte counts, hemoglobin levels, but patients with CALR1 mutation revealed higher platelet counts than those with JAK2 mutation. These ndings were not consistent with the report by Guo et al [10] , it was reported patients with CALR2 mutation exhibited lower WBC counts and higher platelet counts than patients with JAK2 mutation. These observations indicate that CALR mutation and JAK2 mutation exert different effect on leukocyte and erythroid cell.…”

Section: Discussioncontrasting

confidence: 99%

“…In addition, patients with CALR1 mutation or CALR2 mutation with lower leukocyte counts and hemoglobin levels than those with JAK2 mutation, in accordance with previous reports [10] . The patients with CALR1 and CALR2 mutations displayed the similar leukocyte counts, hemoglobin levels, but patients with CALR1 mutation revealed higher platelet counts than those with JAK2 mutation.…”

Section: Discussionsupporting

confidence: 92%

“…Previous study [3,8,9] showed that the age of presentation was the highest in JAK2-mutated patients, it was same that the majority of patients are older than 60 in JAK2 mutated patients in this study. It was reported that the patients with ET who had CALR mutation showed a preference for males, the highest Plt count, the lowest leukocytosis, Hb level, LDH level, the lowest number of thrombotic events and cardiovascular events, low risk of transformation to myelo brosis and leukemia, and long-term survival rates and better prognosis [3,10] .…”

Section: Discussionmentioning

confidence: 99%

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JAK2 or CALR Mutations Status and Bone Marrow Histology in Patients with Essential Thrombocythemia in Chinese

Yimamniyaz

et al. 2020

Preprint

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Abstract Objectives: To characterize the clinical, and bone marrow histopathological features of essential thrombocythemia (ET) with different gene mutations status of CALR and JAK2.Methods: 159 patients of ET were centrally analyzed from January 2016 to December 2019, including 59 cases with CALR mutation, 96 JAK2 mutation, 2 MPL mutation, and 2 cases were triple-negative (TN). Bone marrow pathology observation and determination were performed by 2 immobilized experienced morphological specialists.Results: Compared to ET with JAK2 mutation, patients with CALR mutation were younger (p=0.000), showed lower count of white blood cell (WBC) and level of hemoglobin (p=0.001, p=0.001), and higher count of platelet (p=0.001). In the bone marrow (BM) biopsy, the median number of megakaryocyte and clusters of megakaryocytes in each high power field (HPF) of vision in patients with CALR mutations were lower than JAK2 mutations patients (p=0.001, p=0.001), thrombotic events in two group was different (5% vs 11.5%) (p=0.03).Conclusion: In Chinese ET patients, patients with CALR mutations were younger, and had lower levels of Hb, and count of WBC, the lower thrombotic evens although with higher platelet counts than those with JAK2 mutation. Patients with JAK2 mutations had a higher median number of megakaryocytes and median number of clusters of megakaryocytes, the clinical significance is worth exploring.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionsupporting

confidence: 92%

Section: Discussionmentioning

confidence: 99%

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JAK2 or CALR Mutations Status and Bone Marrow Histology in Patients with Essential Thrombocythemia in Chinese

Yimamniyaz

et al. 2020

Preprint

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“…When seen clinically, CALR-mutated patients were younger as compared to JAK2 and triple-negative patients. This is the same as studies by Rumi et al, [7] Sazawal et al, [8] and Wojtaszewska [9] et al although some studies like Guo et al [10] and Pietra [1] et al showed no age difference. This variation in studies may be attributed to the different ethnic origin of these patients.…”

Section: Discussionsupporting

confidence: 85%

Mutation profile in Indian primary myelofibrosis patients and its clinical implications

Patil

Shanmukhaiah

Mantri

et al. 2019

South Asian J Cancer

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Background: Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by abnormal proliferation of megakaryocytes, bone marrow fibrosis, and extramedullary hematopoiesis. We did mutation profile of 50 patients of PMF and tried to correlate it with initial clinical presentation of these patients. Materials and Methods: All new and follow up patients who were diagnosed as PMF based on WHO 2016 definition of PMF were included. Mutation profile of these patients including JAK2 V617F, JAK2 exon 12, CALR and MPL mutations was done and all clinical, demographic and laboratory details were recorded. Results: Total 50 patients were enrolled out of which 29 were males and 21 were females. Out of these patients, 32 (64%) were JAK2 positive, 13 (26%) were CALR positive, 1 (2%) were MPL positive and 4 (8%) were triple negative. As compared to JAK2+ve patients and triple negative group, CALR positive patients were younger, had lower total leucocyte count, larger spleen size, lower dynamic international prognostic scoring system (DIPSS) score and higher grade of fibrosis of marrow. Conclusion: This study depicts that incidence of JAK2 and CALR mutations in Indian PMF patients is fairly similar to that in rest of the world. CALR positive patients have better clinical parameters at presentation and have better prognosis as compared to JAK2 positive patients.

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“…According to the majority of studies, the frequency of JAK2 V617F mutation in negative-Breakpoint Cluster Region protein-Proto-Oncogene ABL (BCR-ABL) Philadelphia MPNs represented 75 %-95 % in PV, 60 %-73 % in ET and 45 %-63 % in MPF [16][17][18][19][20] , whereas the incidence of JAK2 exon 12 lesion is 4.5 %-5.76 % with wild JAK2 V617F PV of patients [17,21] . ET and PMF patients that lack JAK2 V617F harbor CALR mutations 7.3 %-21.9 %, 5.3 %-30 %, respectively, whereas in all cases of PV had nonmutated CALR aberrations [16][17][18][19][20] . Type 1, 52 bp deletions were of most prevalence in ET [16,18,19,[21][22][23] , in contrast others reported type 2, 5 bp insertions [17] .…”

Section: Table 1: Calr Gene Variations Identified In a Pv Patientmentioning

confidence: 99%

Molecular Screening of Exon 12 of Janus Kinase 2, Exon 9 of Calreticulin Genes in Polycythemia Vera Patients with Unmutated Janus Kinase 2 V617F

Sofi¹,

Hidayat²

2022

IJPS

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The calreticulin gene has nine exons and most of the frequent mutations screened and observed in the 9 th exon in myeloproliferative neoplasm patients, especially essential thrombocythemia and primary myelofibrosis. In the current study, an uncommon calreticulin mutation was observed in a 51 y old man with a polycythemia vera phenotype. Somatic novel homozygous mutations affect exon 9 of the calreticulin gene. These recent genetic variations were not reported in previous studies. Molecular screening of calreticulin may be important for polycythemia vera patients that are negative for the Janus kinase 2 V617F and exon 12 Janus kinase 2. A total of 11 negative Janus kinase 2 V617F polycythemia vera patients were previously diagnosed by the amplification refractory mutation system-polymerase chain reaction technique. Sanger sequencing was performed to screen exon 12 of the Janus kinase 2 gene and the last exon of the calreticulin gene. In addition, all 11 negative V617F patients were wild for exon 12 of the Janus kinase 2 gene. The calreticulin lesion in myeloproliferative neoplasms as a second biomarker, particularly in essential thromobocythemia and primary myelofibrosis, is more informative for diagnosis. Molecularly, in negative Janus kinase 2 V617F and exon 12 patients with polycythemia vera phenotypes, genotyping calreticulin may be useful.

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Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms

Cited by 7 publications

References 30 publications

JAK2 or CALR Mutations Status and Bone Marrow Histology in Patients with Essential Thrombocythemia in Chinese

JAK2 or CALR Mutations Status and Bone Marrow Histology in Patients with Essential Thrombocythemia in Chinese

Mutation profile in Indian primary myelofibrosis patients and its clinical implications

Molecular Screening of Exon 12 of Janus Kinase 2, Exon 9 of Calreticulin Genes in Polycythemia Vera Patients with Unmutated Janus Kinase 2 V617F

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