Year 2020, Volume 45 , Issue 3, Pages 933 - 939 2020-09-30

Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects
BCR-ABL negatif kronik myeloproliferatif hastalıkların tanı anındaki genetik analizleri ve bunların klinik etkileri

Ayşe UYSAL [1] , Şule ALTINER [2] , Said ÇELİK [3] , Serhat UYSAL [4] , Alper Han ÇEBİ [5]


Purpose: The aim of this study to discuss frequency and clinical significance of JAK2-V617F, Calreticulin (CALR type 1 and type-2) and MPL-W515K/L mutations in patients at initial diagnosis of bcr-abl negative chronic myeloproliferative diseases (CMPD).
Materials and Methods: In this study, the demographic characteristics, subtype, risk status and mutation analysis were investigated between July 2017 and March 2019 in patients diagnosed with bcr-abl negative CMPD.
Results: JAK2 V617F mutation was detected in sum of 27 patients, 18 of them (85,7%) diagnosed with polycythemia vera (PV) and rest of them (N=9, 56,2%) diagnosed with essential thrombocytosis (ET). Calreticulin mutation was positive in 4 (57,1%) patients, who were also JAK2 V617F negative, diagnosed with ET. CALR-type 1 mutation was detected in three patients and CALR-type 2 was in one. MPL-W515K/L was not detected in any of patients diagnosed with ET. Thrombotic event was accompanied 12,6% of patients with PV and 6,25% patients with ET. Splenomegaly was noted in 14 (37,8%) of patients. Conclusion: Pathogenesis, classification, and risk groups of CMPD have been well characterized with the identification of some genetic mutations in recent years. JAK2 V617F, CALR and MPL are the most common somatic mutations in the pathogenesis of CMPD, which are important in the diagnosis, risk classification and follow-up of the disease and gain importance in personalized medicine.

Amaç: Bu çalışmanın amacı, bcr-abl negatif kronik miyeloproliferatif hastalık tanısı alan hastaların tanı anında JAK2 V617F, kalretikulin (CALR tip-1 ve tip-2) ve MPL-W515K / L mutasyonların sıklığını ve bu mutasyonların klinik önemini tartışmaktır.
Gereç ve Yöntem: Bu çalışmada, Temmuz 2017-Mart 2019 tarihleri arasında BCR-ABL negatif kronik miyeloproliferatif hastalık tanısı alan hastaların demografik özellikleri, tanı alt tipi, risk durumu ve mutasyon analizi araştırılmıştır.
Bulgular: JAK2-V617F mutasyonu 18‘i (% 85,7) polistemia vera (PV) ve geri kalanı (N = 9, %56,2) esansiyel trombositoz (ET) tanısı alan toplam 27 hastada saptandı. ET tanısı konmuş JAK2 V617F negatif 4 (% 57,1) hastada kalretikulin mutasyonu saptandı. Üç hastada CALR-tip 1 mutasyon ve 1 hastada CALR-tip 2 mutasyon tespit edildi. ET tanısı alan hastaların hiçbirinde MPL-W515K / L saptanmadı. Trombotik olay PV' li hastaların % 12,6'sı ve ET' li hastaların% 6,25'i olarak tespit edildi. Hastaların 14'ünde (% 37,8) splenomegali saptandı.
Sonuç: Kronik myeloproliferatif hastalıkların patogenezi, sınıflandırılması ve risk grupları son yıllarda bazı genetik mutasyonların tanımlanması ile iyi karakterize edilmiştir. JAK2 V617F, CALR ve MPL kronik myeloproliferatif hastalıkların patogenezinde, hastalığın tanı, risk sınıflandırması, takipte önemli olan ve kişiselleştirilmiş tıpta önem kazanan aynı zamanda en sık tanımlanan somatik mutasyonlardır.
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Primary Language en
Subjects Hematology
Journal Section Research
Authors

Orcid: 0000-0002-5581-8104
Author: Ayşe UYSAL (Primary Author)
Institution: BALIKESİR ÜNİVERSİTESİ, TIP FAKÜLTESİ
Country: Turkey


Orcid: 0000-0001-5789-8630
Author: Şule ALTINER
Institution: ANKARA TIP FAKÜLTESİ
Country: Turkey


Orcid: 0000-0001-8879-8456
Author: Said ÇELİK
Institution: TRABZON KANUNİ SAĞLIK UYGULAMA VE ARAŞTIRMA MERKEZİ
Country: Turkey


Orcid: 0000-0002-4294-5999
Author: Serhat UYSAL
Institution: BALIKESİR ÜNİVERSİTESİ, TIP FAKÜLTESİ
Country: Turkey


Orcid: 0000-0001-7388-8740
Author: Alper Han ÇEBİ
Institution: KARADENİZ TEKNİK ÜNİVERSİTESİ
Country: Turkey


Supporting Institution yok
Dates

Publication Date : September 30, 2020

MLA Uysal, A , Altıner, Ş , Çelik, S , Uysal, S , Çebi, A . "Genetic analysis of BCR-ABL negative chronic myeloproliferative diseases at initial diagnosis and their clinical effects" . Cukurova Medical Journal 45 (2020 ): 933-939 <https://dergipark.org.tr/en/pub/cumj/issue/54246/699491>