The Prevalence ofJAK2,MPL, andCALRMutations in Chinese Patients WithBCR-ABL1–Negative Myeloproliferative Neoplasms

Lin, Yani; Liu, Enbin; Sun, Qi; Ma, Jiao; Li, Qinghua; Cao, Zhen-Dong; Wang, Jun; Jia, Yujiao; Zhang, Hongju; Song, Zhen; Ai, Xin; Shi, Lihui; Feng, Xiaoran; Li, Chenwei; Wang, Jianxiang; Ru, Kun

doi:10.1309/ajcpalp51xdixddv

Cited by 46 publications

(50 citation statements)

References 37 publications

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“…A lot of literature data demonstrate that exon 12 mutations in JAK2 V617F-negative cases vary significantly, ranging from 11.6 to 100% (50% in this study), but that in all PV patients, the spread was from 0.98 to 5% and an unexpected 23% in Taiwan (4.4% in this study) [11,13,14,15,16]. According to the authors, the high frequency of JAK2 exon 12 mutations in the Taiwanese population might be related to uneven geographic distribution of changes in Asian and Western populations.…”

Section: Discussionmentioning

confidence: 60%

“…Some researchers suggest there is even 100% frequency of JAK2 V617F mutation in PV patients, while data in the literature show that the occurrence of JAK2 V617F mutation is diversified and ranges from 65 to 99% in this group [2,8,9,10,11]. There are still very little data concerning this subject in Poland.…”

Section: Discussionmentioning

confidence: 99%

“…A wide range of techniques for the detection of JAK2 exon 12 mutation is used in laboratory practice: allele-specific (AS)-PCR, direct or clone sequencing, high-resolution melting (HRM), the nonisotopic RNase cleavage assay, the quantitative bead-based assay and others. The sensitivity of those methods ranges from 0.01 to 15% [11,15,17,18,19,20,21,22,23,24]. Moreover, the following variables contribute to the sensitivity: the sample type (unfractionated peripheral blood, granulocytes or bone marrow) and the type of nucleic acid used as a template (genomic or complementary DNA).…”

Section: Discussionmentioning

confidence: 99%

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Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique

et al. 2016

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Introduction: The identification of mutations of the JAK2 gene is a useful marker in the diagnosis of polycythemia vera (PV) patients. We studied the frequency of JAK2 mutations in a group of PV patients because data are still very limited regarding this subject in Polish patients. Methods: The JAK2 V617F mutation was examined using the amplification refractory mutation system (ARMS)-PCR method. Direct sequencing and a cloning technique were performed to determine alternations in exon 12 of the JAK2 gene. Results: A group of 90 consecutive patients with a suspected diagnosis of polycythemia vera were investigated. In 91% of the cases, the JAK2 V617F mutation was identified. The remaining JAK2 V617F-negative patients were subjected to examination for JAK2 exon 12 by direct PCR product sequencing and the cloning technique. The following mutations were identified: H538-K539delinsL, E543-D544del and N542-E543del. These exon 12 mutants constituted 50% of PV JAK2 V617F-negative group and 4.4% (out of 90) of all PV patients (JAK2 V617F-positive and JAK2 V617F-negative). Conclusion: Our results demonstrate the prevalence of JAK2 mutations (V617F and in exon 12) in PV cases. Moreover, the data show that direct sequencing is not an adequate technique for exon 12 mutation identification; therefore, appropriate methodology should be considered for using this molecular marker in the process of diagnosis.

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Section: Discussionmentioning

confidence: 60%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Detection of JAK2 Exon 12 Mutations in JAK2 V617F-Negative Polycythemia Vera Patients by Cloning Technique

et al. 2016

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“…Serum anticalreticulin antibodies have been found in 63% of hepatocellular carcinoma patients, suggesting that CALR is a molecular target for B cell molecular in this malignancy (Pekarikova, et al 2010). In the hepatocellular carcinoma SMMC7721 and HepG2 cell lines, CALR silencing reduced cell viability, cell cycle progression, invasion and AKT activation (Feng, et al 2015).…”

Section: Hepatocellular Carcinomamentioning

confidence: 96%

“…Recently, evidence of the CALR participation in cell signaling networks has grown. CALR has been pointed out as a regulator of STAT3, STAT5, AKT, MAPK and PTK2 (FAK) cell signaling, promoting proliferation, cell cycle progression, migration, invasion and anoikis resistance (Chiang, et al 2013;Du, et al 2009;Feng, et al 2015;Shi, et al 2014;Wang, et al 2013). CALR has also been described as a VEGFA and HIF1A inductor (Chen, et al 2009;.…”

Section: Functionmentioning

confidence: 99%

CALR (calreticulin)

Machado-Neto¹,

Campos²,

Trainaen³

2018

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Calreticulin (CALR) is a multifunctional protein involved in molecular chaperoning and calcium homeostasis. CALR has also been associated with proliferation, cell cycle progression, migration, invasion and anoikis resistance in cancer cells. The prognostic impact of CALR expression is yet to be elucidated, however in some types of cancer, high CALR expression has been related to worse clinical outcomes. Notably, the discovery of recurrent mutations in the exon 9 of the CALR gene in myeloproliferative neoplasms has opened a new round of investigations. The present review contains data on CALR DNA/RNA, protein encoded and function.

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Clinical laboratory characteristics and gene mutation spectrum of Ph‐negative MPN patients with atypical variants of JAK2, MPL, or CALR

Wang,

Tian,

et al. 2024

Cancer Medicine

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ObjectiveTo evaluate the incidence, clinical laboratory characteristics, and gene mutation spectrum of Ph‐negative MPN patients with atypical variants of JAK2, MPL, or CALR.MethodsWe collected a total of 359 Ph‐negative MPN patients with classical mutations in driver genes JAK2, MPL, or CALR, and divided them into two groups based on whether they had additional atypical variants of driver genes JAK2, MPL, or CALR: 304 patients without atypical variants of driver genes and 55 patients with atypical variants of driver genes. We analyzed the relevant characteristics of these patients.ResultsThis study included 359 patients with Ph‐negative MPNs with JAK2, MPL, or CALR classical mutations and found that 55 (15%) patients had atypical variants of JAK2, MPL, or CALR. Among them, 28 cases (51%) were male, and 27 (49%) were female, with a median age of 64 years (range, 21–83). The age of ET patients with atypical variants was higher than that of ET patients without atypical variants [70 (28–80) vs. 61 (19–82), p = 0.03]. The incidence of classical MPL mutations in ET patients with atypical variants was higher than in ET patients without atypical variants [13.3% (2/15) vs. 0% (0/95), p = 0.02]. The number of gene mutations in patients with atypical variants of driver genes PV, ET, and Overt‐PMF is more than in patients without atypical variants of PV, ET, and Overt‐PMF [PV: 3 (2–6) vs. 2 (1–7), p < 0.001; ET: 4 (2–8) vs. 2 (1–7), p < 0.05; Overt‐PMF: 5 (2–9) vs. 3 (1–8), p < 0.001]. The incidence of SH2B3 and ASXL1 mutations were higher in MPN patients with atypical variants than in those without atypical variants (SH2B3: 16% vs. 6%, p < 0.01; ASXL1: 24% vs. 13%, p < 0.05).ConclusionThese data indicate that classical mutations of JAK2, MPL, and CALR may not be completely mutually exclusive with atypical variants of JAK2, MPL, and CALR. In this study, 30 different atypical variants of JAK2, MPL, and CALR were identified, JAK2 G127D being the most common (42%, 23/55). Interestingly, JAK2 G127D only co‐occurred with JAK2V617F mutation. The incidence of atypical variants of JAK2 in Ph‐negative MPNs was much higher than that of the atypical variants of MPL and CALR. The significance of these atypical variants will be further studied in the future.

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The Prevalence ofJAK2,MPL, andCALRMutations in Chinese Patients WithBCR-ABL1–Negative Myeloproliferative Neoplasms

Abstract: The combined genetic tests of JAK2 V617F, JAK2 exon 12, MPL exon 10, and CALR exon 9 help improve the diagnostic rate for BCR-ABL1-negative MPN.

Cited by 46 publications

References 37 publications

Detection of <b><i>JAK2</i></b> Exon 12 Mutations in <b><i>JAK2</i></b> V617F-Negative Polycythemia Vera Patients by Cloning Technique

Detection of <b><i>JAK2</i></b> Exon 12 Mutations in <b><i>JAK2</i></b> V617F-Negative Polycythemia Vera Patients by Cloning Technique

CALR (calreticulin)

Clinical laboratory characteristics and gene mutation spectrum of Ph‐negative MPN patients with atypical variants of JAK2, MPL, or CALR

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