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Journals / Türk Biyokimya Dergisi / 2019 / Cilt: 44 - Sayı: 4

Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia

Miyeloproliferatif neoplazilerde JAK2 V617F gen mutasyonunun değerlendirilmesi: Doğu Anadolu’dan tek merkez deneyimi

Elif YEŞİLADA
İrfan KUKU
Gonca GÜLBAY
Harika GÖZÜKARA BAĞ
Emin KAYA
Mehmet Ali ERKUT
Pages
492–498
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Detection of JAK2 V617F in myeloproliferative neoplasms (MPNs) is very important in both diagnosis and disease progression.
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Key Findings & Data:In our study, we investigated the frequency of JAK2 V617F mutation in patients with myelo- proliferative disorders.Methods: We retrospectively reviewed the records of 720 patients (174 females and 546 males) who were tested for JAK2 V617F mutation from January 2007 to December 2017.
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Conclusion & Impact:However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.
🔬Design:Review & Systematic Survey
📍Scope:2007 Verileri
⚙️Variables:Domain Parameters

Abstract

Objective: Detection of JAK2 V617F in myeloproliferative neoplasms (MPNs) is very important in both diagnosis and disease progression. In our study, we investigated the frequency of JAK2 V617F mutation in patients with myelo- proliferative disorders.Methods: We retrospectively reviewed the records of 720 patients (174 females and 546 males) who were tested for JAK2 V617F mutation from January 2007 to December 2017. Results: In our patients were determined 22.6% JAK2 V617F mutation. 33.3% in women, 19.2% in men have been positive for JAK2 V617F mutation. In our study JAK2 V617F present in 48.6% of essential thrombocythemia, 80.5% of polycythemia rubra vera (PV), 47.5% of primary myelofi- brosis, 10% of MPNs, unclassifiable, 0.8% of others. We also investigated the difference in hematological para- meters [white blood cell, hemoglobin (Hb), hematocrit (HCT), red blood cell distribution widths (RDW) and plate- lets count (PLT)] between JAK2 V617F positive and JAK2 V617F negative patients.Conclusions: Investigation of the JAK2 V617F mutation is very important in cases of MPNs. In our study JAK2 V617F mutation was higher in PV, essential thrombocythemia, and primary myelofibrosis patients. However, there were significant differences in Hb, HCT, RDW and PLT levels in mutation-positive patients.

Özet

Amaç: Miyeloproliferatif neoplazilerde (MPN) JAK2 V617F mutasyonunun taranması hastalığın hem tanısında hem de ilerlemesi aşamalarında oldukça önemlidir. Çalışma- mızda miyeloproliferatif hastalarda JAK2 V617F mutasyo- nunun sıklığını araştırdık. Metod: Ocak2007-Aralık 2017 tarihleri arasında JAK2 V617F mutasyonu istemi yapılan 720 hastanın (174 kadın ve 546 erkek) laboratuvar sonuçları retrospektif olarak incelendi. Bulgular: Hastalarımızda %22.6 oranında JAK2 V617F mutasyonutespitedilmiştir.Bumutasyon oranının %33.3’ü kadın, %19.2’si erkeklerden oluşmaktadır. Çalış- mamız %48.6 esansiyel trombositemi, %80.5 polisitemi rubra vera, %47.5 primer myelofibrozis, %10 sınıflandı- rılamayan tip kronik miyeloproliferatif hastalık ve %0.8 oranında da diğerlerinden oluşmaktadır. Aynızamanda bu çalışmada JAK2 V617F pozitif and JAK2 V617F negatif hastalarda hematolojik parametreler (WBC, Hb, HCT, RDW ve PLT) arasındaki farklılıklar da incelenmiştir. Sonuç: JAK2 V617F mutasyonu MPN’li olgularda oldukça önemlidir. Çalışmamızda JAK2 V617F mutasyonu sırası ile PV, ET ve PMF hastalarında daha yüksektir. Bununla bir- likte mutasyon pozitif hastalarda Hb, HCT, RDW and PLT düzeylerinde belirgin farklılıklar tespit edilmiştir.

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Cite This Article

YEŞİLADA, E., KUKU, İ., GÜLBAY, G., BAĞ, H. G., KAYA, E., ERKUT, M. A. (2022). Evaluation of the JAK2 V617F gene mutation in myeloproliferative neoplasms cases: a one-center study from Eastern Anatolia. Türk Biyokimya Dergisi, Cilt: 44 - Sayı: 4, 492–498. https://ajindex.com/articles/620912

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