Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera

Karkucak, Mutlu; Yakut, Tahsin; Özkocaman, Vildan; Özkalemkaş, Fahir; Ali, Rıdvan; Bayram, Murat; Görükmez, Orhan; Ocakoğlu, Gökhan

doi:10.1007/s11033-012-1721-x

Cited by 16 publications

(32 citation statements)

References 23 publications

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“…When compared with earlier reports, our results are intermediate with regional studies reported from India and Malaysia; 82% and 95.8% for JAK2V617F mutational expression respectively (Sazawal et al, 2010;Hamidah et al, 2012). Other studies from Turkey reported the frequency of JAK-2 positivity in 80% and 95% of patients with PV respectively (Karkucak et al, 2012;Payzin et al, 2014). Similarly, JAK2 mutation in Taiwanese patients with PV was detected in 28 out of 33 patients (85%) (Lieu et al, 2008).…”

Section: Discussionmentioning

confidence: 89%

“…It was noted that the prevalence of JAK2V617F mutation in our patients from southern Pakistan was comparable with that reported in the previous local studies (93.5% and 100%) from Pakistan (Khattak et al, 2012;Sadiq et al, 2013). JAK2 V617F positivity in PV has been observed from various racial backgrounds ranging from 80% to 100% (Karkucak et al, 2012;Sadiq et al, 2013). When compared with earlier reports, our results are intermediate with regional studies reported from India and Malaysia; 82% and 95.8% for JAK2V617F mutational expression respectively (Sazawal et al, 2010;Hamidah et al, 2012).…”

Section: Discussionmentioning

confidence: 99%

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Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience

Sultan

Irfan²,

Khan³

2016

Asian Pacific Journal of Cancer Prevention

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Background: Polycythemia rubra vera (PV), being a primary polycythemia, is caused by neoplastic proliferation of erythroid, megakaryocytic and granulocytic lineages which result in panmyelosis. PV patients have a somatic acquired mutation in the Janus kinase (JAK2) pathway, rendering cell proliferation independent of the normal regulatory mechanisms that regulate erythropoiesis. The rational of this study was to determine the prevalence of the JAK-2 V617F mutation in Pakistani patients with PV. Materials and Methods: In this cross sectional study, 26 patients with PV were enrolled from January 2010 to December 2014. Patients were diagnosed based on WHO criteria for PV. All were screened for G-T point mutation (V617F) in the JAK2 gene on chromosome 9 by an allele specific PCR. Results: The mean age was 53.4±9.31 years (range 36-72) and the male to female ratio was 2:1. The frequency of JAK2 V617F positivity in our PV patients was found to be 92.3%. Overall 30.7% of patients were asymptomatic and remaining 69.3% presented with symptomatic disease. The mean hemoglobin was 18.1±1.9g/dl with the mean hematocrit of 55.6±8.3%. The mean total leukocyte count was 12.8±7.1x10 9 /l and the platelet count was 511±341.9x10 9 /l. A positive correlation of JAK2 V617F mutation was established with high TLC count (P=0.01). No correlation of JAK2 V617F could be established with age or gender (P>0.05). Conclusions: The JAK2 V617F mutation frequency in our PV patients was similar to those reported internationally. Screening for the mutation in all suspected PV cases could be beneficial in differentiating patients with reactive and clonal erythrocytosis.

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Section: Discussionmentioning

confidence: 89%

Section: Discussionmentioning

confidence: 99%

Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience

Sultan

Irfan²,

Khan³

2016

Asian Pacific Journal of Cancer Prevention

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“…2012 senesinde Karakucak ve ark. 'larının Türkiye'de yaptı-ğı çalışmada JAK2 V617F mutasyon sıklığı PV hastalarında %80, ET hastalarında %42 olarak bulunmuştur [15]. Yine Türkiye'de yapılan başka bir çalışmada JAK2 V617F mutasyon sıklığı PV hastalarında %89, ET hastalarında %62 ve IMF hastalarında %25 olarak bulunmuş-tur [14].…”

Section: Discussionunclassified

“…Yine Türkiye'de yapılan başka bir çalışmada JAK2 V617F mutasyon sıklığı PV hastalarında %89, ET hastalarında %62 ve IMF hastalarında %25 olarak bulunmuş-tur [14]. 14,15]. Platelet sayısı ile ilgili çalışmalar çelişkilidir.…”

Section: Discussionunclassified

“…Yakın tarihlerde Türk toplumunda BCR-ABL negatif MPD'da JAK2 V617F mutasyonunu inceleyen iki çalış-ma yayınlanmıştır. Bu çalışmalarda klinik tanılardan yola çıkılarak tam kan sayımının bazı parametreleri ile mutasyon ilişkisi incelenmiştir [14][15]. Biz de bu ça-lışmamızda Türkiye'nin pek çok yerinden hastanemize başvurup JAK2 V617F mutasyonu bakılan hastalarda mutasyonun görülme sıklığını ve klinik tanılarından bağımsız olarak mutasyonun bazı hematolojik parametreler üzerine etkisini araştırmayı planladık.…”

Section: Introductionunclassified

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The Frequency Of JAK2 V617F Gen Mutation And Its Associations With Whole Blood Count Parameters

Ünal¹,

Erdoğan²,

Yılmaz³

2014

Turk J Bioch

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ÖZETAmaç: Janus Kinaz 2 (JAK2) geninin V617F mutasyonu; polisitemi vera (PV), esansiyel trombositoz (ET) ve primer miyelofibrozis (PMF) gibi BCR-ABL negatif myeloproliferatif hastalıkların (MPD) tanısında kullanılır. Biz de bu çalışmamızda Türkiye'nin pek çok yerinden hastanemize başvurup JAK2 V617F mutasyonu bakılan hastalarda mutasyonun görülme sıklığını ve mutasyonun bazı hematolojik parametreler üzerine etkisini araştırmayı planladık. Yöntemler: Ocak-Aralık 2012 tarihleri arasında JAK2 V617F mutasyonu istemi yapılan 201 hastanın (174 erkek, 27 kadın) laboratuvar sonuçları retrospektif olarak incelendi. JAK2 V617F mutasyonu, BCR-ABL mutasyonu, lökosit (WBC), eritrosit (RBC), trombosit (PLT), eritrosit dağılım genişliği (RDW), hemoglobin (Hb), hematokrit (Hct) seviyeleri, demir düzeyleri, demir bağlama kapasitesi (Dbk) ve hastaların demografik verileri kaydedildi. JAK2 genindeki mutasyonu araştırmak için gerçek zamanlı polimeraz zincir reaksiyonuna dayanan V617F mutasyonu ticari kiti kullanıldı. Bulgular: Laboratuvarımızda çalışılan 201 hastanın JAK2 V617F mutasyonu %14.9 pozitif idi. JAK2 V617F mutasyonu istemi olan hastalar, JAK2 V617F mutasyonu pozitif ve negatif olmasına göre iki gruba ayrıldı. Bu iki grup arasında yaş, RDW ve PLT değerleri mutasyon pozitif grupta anlamlı olarak daha yüksekti (p <0.05). JAK2 V617F mutasyonuna ek olarak BCR/ABL mutasyonu istemi olan grup üzerinde yeniden değerlendirme yapıldı. Yaş, RDW ve PLT değerleri JAK 2 V617F mutasyonu pozitif/ BCR-ABL mutasyonu negatif olan grupta anlamlı olarak daha yüksekti (p < 0.05). Sonuç: Bizim çalışmamızda mutasyon pozitif olgularda yaş, RDW ve platelet sayısında anlamlı farklılık tespit edildi. Bu durum JAK2 V617F mutasyonun eritroid seriyle birlikte megakaryositik seride de proliferasyona sebep olabileceğini ve eritrosit olgunlaşma sürecinin bozulması sonucu eritrosit dağılım hacminin etkilenebileceğini düşündürmektedir. Anahtar Kelimeler: JAK2 V617F mutasyonu, BCR-ABL mutasyonu, eritrosit dağılım genişliği, trombosit Çıkar Çatışması: Yazarların çıkar çatışması bulunmamaktadır. ABSTRACTObjective: V617F mutation of Janus kinase (JAK2) gene is used in the diagnosis of BCR-ABL negative myeloproliferative diseases such as polycytemia vera, essential thrombocythemia and primary myelofibrosis. In this study, we evaluated the frequency of JAK2 V617F mutation in a group of Turkish individuals and its association with whole blood count parameters. Methods: We retrospectively reviewed the records of 201 patients (174 males and 27 females) who were tested for JAK2 V617F mutation from January 2012 to December 2012. JAK2V617F mutation, BCR-ABL mutation, level of white blood cell count (WBC), red blood cell count (RBC), platelet count (PLT), red blood cell distribution width (RDW), hemoglobin (Hb), hematocrit (Hct), level of iron, iron binding capacity and demographic data of patients were also noted. A commercial kit assay for the identification of V617F mutation based on real time-polymerase chain reaction had been used to investigate mutation of the JAK...

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Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis

et al. 2014

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Essential thrombocythemia (ET) is an entity of classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs), characterized by thrombocytosis with megakaryocytic hyperplasia and thrombocytes are increased with abnormal functions. Discovery of the protein tyrosine kinase JAK2 V617F allele contributed to better understanding of the pathogenetic mechanisms of MPNs. Acquired single point mutation in the JAK2 V617F was determined approximately 50-60 % of patients with ET. In this study we aimed to investigate the relationship between JAK2 V617F gene mutation, hematologic, biochemical markers and the complications in the ET patients. A total of 268 patients diagnosed with ET and 219 of those studied for JAK2 gene mutation were followed at the hematology clinics of three major hospitals between 2008 and 2013 were screened retrospectively. Laboratory, clinical and hematologic parameters were compared for JAK2 V617F positive and JAK2 V617F negative patients with ET. 102 (46 %) patients were positive with the JAK2 V617F mutation. The complications were observed in 61 (28 %) patients and 38 (62 %) of them had JAK2 V617F mutation. The levels of white blood cells, neutrophil, basophil, red blood cells, hemoglobin, hematocrit, mean platelet volume, thrombocytes, eosinophil; urea, creatinine were significantly different in patients with the JAK2 V617F mutation (P < 0.05). Presence of the JAK2 V617F mutation supports the diagnosis of ET. It would be useful to investigate the JAK2 V617F mutation and the hematologic and biochemical markers at diagnosis with respect to consider the risk of developing complications and to take the precautions against these complications.

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Evaluation of the JAK2-V617F gene mutation in Turkish patients with essential thrombocythemia and polycythemia vera

Cited by 16 publications

References 23 publications

Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience

Somatic JAK-2 V617F Mutational Analysis in Polycythemia Rubra Vera: a Tertiary Care Center Experience

The Frequency Of JAK2 V617F Gen Mutation And Its Associations With Whole Blood Count Parameters

Evaluation of clinical and laboratory findings with JAK2 V617F mutation as an independent variable in essential thrombocytosis

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