COMPARISON OF PATIENTS WITH PRE-DIAGNOSIS OF MYELOPROLIFERATIVE NEOPLASM PATIENTS WITH LOW AND HIGH JAK2V617F ALLELE BURDEN IN TERMS OF CLINICAL AND HEMATOLOGICAL PARAMETERS

Year 2024, , 76 - 80, 17.01.2024

Özgür Erkal , Barış Paksoy , Püsem Patır

https://doi.org/10.18229/kocatepetip.1254047

Abstract

OBJECTIVE: JAK2V617F mutation positivity is the main criterion for the diagnosis of chronic myeloproliferative neoplasms (CMPN). Determination of allele burden has become a standard diagnostic procedure in most molecular laboratories, but no cutoff value is specified for the diagnosis of CMPN. Herein, comparison of myeloproliferative neoplasia prediagnosed patients with low and high JAK2V617F allele burden in terms of clinical and hematological parameters were aimed.
MATERIAL AND METHODS: Ninty-five patients with positive JAK2V617F mutation in the Medical Genetics Clinic of Health Sciences University Antalya Training and Research Hospital between 2019-2021 were analyzed retrospectively.
RESULTS: Sixty four percent of 46 patients with low allele burden (≤3%) had the CMPN phenotype, while 100% of 49 patients with high allele burden (>3%) had the CMPN phenotype. There was no statistically significant difference between the two groups in terms of erythrocyte count, hemoglobin level, and mean erythrocyte volumes, however leukocyte, neutrophil and platelet elevations were found to be statistically significant in favor of the group with JAK2V617F allele burden >3% (p=0.007; p<0.001; p<0.001).
CONCLUSIONS: Although the low allele burden JAK2V617F mutation is difficult to interpret in daily clinical practice, not all positive patients have a hematological diagnosis. All patients with an allele burden >3% were diagnosed with CMPN; therefore, an allele burden above this limit can be considered as an indicator of the presence of a myeloproliferative disease. Studies with larger patient cohorts prospectively examined using standardized molecular methods are needed to define the approach to the low allele burden JAK2V617F mutation.

Keywords

Myeloproliferative disorders, JAK2 protein, Alleles

DÜŞÜK VE YÜKSEK JAK2V617F ALLEL YÜKÜ OLAN MİYELOPROLİFERATİF NEOPLAZİ ÖN TANILI HASTALARIN KLİNİK VE HEMATOLOJİK PARAMETRELER AÇISINDAN KARŞILAŞTIRILMASI

Abstract

AMAÇ: JAK2V617F mutasyonu pozitifliği kronik miyeloproliferatif neoplazilerin (KMPN) tanısı için ana kriterdir. Mutasyon yükünün belirlenmesi çoğu moleküler laboratuvarda standart bir tanı prosedürü haline gelmiştir, ancak KMPN tanısı için bir sınır değer belirtilmemektedir. Burada, JAK2V617F mutasyon yükü düşük ve yüksek olan miyeloproliferatif neoplazi ön tanılı hastaların klinik ve hematolojik parametreler açısından karşılaştırılması amaçlandı.
GEREÇ VE YÖNTEM: Sağlık Bilimleri Üniversitesi Antalya Eğitim ve Araştırma Hastanesi tıbbi genetik kliniğinde 2019 - 2021 yılları arasında JAK2V617F mutasyonu pozitif olan 95 hasta retrospektif olarak analiz edildi.
BULGULAR: Allel yükü düşük (≤%3) olan 46 hastanın %64'ü KMPN fenotipine sahipken, yüksek allel yükü (>%3) olan 49 hastanın %100'ü KMPN fenotipine sahipti. Her iki grup arasında eritrosit sayısı, hemoglobin düzeyi, ortalama eritrosit hacimleri arasında istatistiksel bir fark bulunmazken; lökosit, nötrofil ve trombosit yüksekliği JAK2V617F allel yükü >%3 olan grup lehine istatistiksel olarak anlamlı bulundu (p=0.007; p<0.001; p<0.001).
SONUÇ: Düşük allel yüklü JAK2V617F mutasyonunun günlük klinik uygulamada yorumlanması zor olmakla birlikte tüm pozitif hastalara hematolojik tanı konmamıştır. Allel yükü >%3 olan tüm hastalara KMPN tanısı konulmuştur; bu nedenle, bu sınırın üzerindeki bir mutasyon yükü, miyeloproliferatif bir hastalığın varlığın göstergesi olarak kabul edilebilir. Düşük allel yüklü JAK2V617F mutasyonuna yaklaşımı tanımlamak için standardize edilmiş moleküler yöntemlerle prospektif olarak incelenen daha büyük hasta gruplarına sahip çalışmalara ihtiyaç vardır.

Keywords

Miyeloproliferatif bozukluklar, JAK2 protein, Alleller

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