The JAK2 V617F mutational status and allele burden – authors’ reply

Borowczyk, Martyna; Wojtaszewska, Marzena; Lewandowski, Krzysztof; Gil, Lidia; Lewandowska, Maria; Lehmann-Kopydłowska, A.; Kroll-Balcerzak, R.; Balcerzak, A.; Iwoła, Małgorzata; Michalak, Michał; Komarnicki, Mieczysław

doi:10.1016/j.thromres.2015.07.006

Cited by 3 publications

(2 citation statements)

References 16 publications

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“…Our results did not show considerable association between thrombosis and heterozygous state. Thisresultalso endorsesmultiple studies which have linked thrombosis at diagnosis or follow up with a very high mutational burden of 75-100% (Borowczyk et al, 2015;Bertozzi et al, 2017;Zhang et al, 2020). This study lacked disease stratification based on zygosity as all patients turned out to be heterozygous; nevertheless, it can be considered as the first endeavor towards assessing the genotypic pattern of JAK2V617F positive PV with disease characteristics among Pakistani patients.…”

Section: Discussionmentioning

confidence: 59%

Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan’s Perspective

Shah

Raza

Nasir

et al. 2021

Asian Pac J Cancer Prev

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Section: Discussionmentioning

confidence: 59%

Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan’s Perspective

Shah

Raza

Nasir

et al. 2021

Asian Pac J Cancer Prev

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“…The study of Borowczyk et al, (2015) documented that in patients with Philadelphia-negative MPNs, the presence of JAK2V617F mutation and the allele burden were shown to be related to the risk of venous thrombosis. Patients harboring JAK2 V617F mutation were at higher risk of VTE (P = 0.024), mainly deep vein thrombosis (DVT).…”

Section: Discussionmentioning

confidence: 99%

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

El-Ghonemy

El-Ashwah

Denewer

et al. 2021

Asian Pac J Cancer Prev

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Background: Philadelphia-negative myeloproliferative neoplasms (MPNs) including polycythemia vera (PV), essential thrombocythemia (ET) and myelofibrosis are clonal haematopoietic stem cell disorders characterized by dysregulated proliferation. The arterial and venous thromboses are the major causes of morbidity and mortality in MPNs. The platelet GP Ib-IX-V receptor complex plays an important role in thrombus formation as the Kozak sequence polymorphism of platelet GP Ibα is associated with increased receptor density. Materials and Methods: This study was conducted on 286 diagnosed patients with Ph-negative MPNs (94 patients of PV, 102 of ET and 90 of MF). In addition, 107 apparently healthy individuals served as a control group. Results: This study revealed that by taking rs2243093 TT as the reference genotype and T as the reference allele; TC, CC, TC+CC genotypes showed lower frequency in ET patients (p= 0.005, 0.007 and 0.001 respectively) and MF patients (p= 0.002, 0.047 and 0.001 respectively) when compared to control groups also, C allele in both groups compared to control (p ≤ 0.001 both). CC genotypes and C allele showed lower frequency in PV patients when compared to control groups (p= 0.032 and 0.026 respectively). Conclusion:From this study we could conclude that patients with Philadelphia-negative MPNs carried Kozak gene polymorphism significantly TT genotype in all patients PV, ET, MF patients and TC in ET and MF patients. The platelet glycoprotein Ibα (Kozak) gene could be incorporated into the routine workup to predict venous thrombosis in patients with Ph-negative MPNs specially ET patients.

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Calreticulin mutation specific CAL2 immunohistochemistry accurately identifies rare calreticulin mutations in myeloproliferative neoplasms

et al. 2019

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The JAK2 V617F mutational status and allele burden – authors’ reply

Cited by 3 publications

References 16 publications

Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan’s Perspective

Frequency of Zygosity in Jak-2 Positive Patients with Polycythemia Vera-Pakistan’s Perspective

Predictive Value of Kozak Gene Polymorphism for Thrombosis in Patients with Philadelphia-Negative MPNs

Calreticulin mutation specific CAL2 immunohistochemistry accurately identifies rare calreticulin mutations in myeloproliferative neoplasms

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