Polisitemia verada JAK2v617F mutasyonunun klinik seyir ve hastalık sonuçlarına etkisi
Küçük Resim Yok
Tarih
2024
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
İnönü Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Giriş: Polisitemia Vera (PV) klonal hematopoezin örneklerinden biri olan miyeloproliferatif hastalıklardan biridir. Klonal çoğalma başta eritroid seri olmak üzere granülositik ve trombositik serideki her üç hücrenin anormal çoğalmasıyla karakterize bir durumdur. Gereç ve Yöntem: İnönü Üniversitesi Tıp Fakültesi Hastanesi İç Hastalıkları Hematoloji kliniğinde 01.01.2009-01.012024 yılları arasında takip edilen 99 PV tanılı hasta çalışmaya dahil edildi. Çalışmada hastaların adı, soyadı, protokol numarası, yaş, cinsiyet, tanı anındaki risk skorlaması, tanı anında başlanan tedavi ve takiplerinde uygulanan en son tedavi, tanıdaki laboratuvar (hemoglobin, hematokrit, lökosit ve trombosit) değerleri, kan biyokimyası, serum EPO, LDH, abdomenin radyolojik görüntülemesi, kemik iliği aspirasyon ve biyopsi verileri, JAK 2 gen mutasyonu sonuçları ve görülen komplikasyonları (tanı anındaki ve takipteki arterial ve venöz tromboz durumu) içeren bilgiler retrospektif olarak incelendi ve kaydedildi. Bulgular: JAK2 sınıflamasına göre tanı sırası dalak boyutu dağılımı açısından istatistiksel olarak anlamlı bir farklılık tespit edilmiştir. WBC değerleri bakımından JAK2V617F Allel yük sınıflaması ikili karşılaştırmalarda Pozitif %12.5-31 — Pozitif %78-100, arasında istatistiksel olarak anlamlı bir fark tespit edilmiştir. JAK2 sınıflamasına göre bireylerin HGB, HCT, PLT, LDH değerleri arasında istatistiksel olarak anlamlı bir farklılık saptanmamıştır Sonuçlar: Sonuç olarak JAK2v617F mutasyonu PV hastalığının ayrılmaz bir parçasıdır. Bizde çalışmamızda bu mutasyonun allel yük ve hastalığın diğer parametreleri arasındaki ilişkiyi açıklamaya ve hastalığın tedavisine etkisine araştırmayı amaçladık. Çalışmamızda splenomegalı ve WBC değerleri bakımından anlamlı bir ilişki bulunmuşken diğer parametreler ile arasında anlamlı bir ilişki bulunmamıştır. JAK2v617F alel yükünün uzun vadeli izlenmesinin klinik değeri üzerine yapılacak daha fazla araştırma, prognoz çıkarımı yapma, izleme stratejilerine rehberlik etme ve tedavi planlarını tasarlama açısından değerli olabilir. Anahtar Kelimeler: Polisitemia Vera, JAK2v617F mutasyonu, Splenomegali, Miyeloproliferatif Neoplazm
Introduction: Polycythemia Vera (PV) is one of the myeloproliferative diseases that are examples of clonal hematopoiesis. Clonal proliferation is a condition characterized by abnormal proliferation of all three cells in the granulocytic and thrombocytic series, especially the erythroid series. Material and Methods: 99 patients diagnosed with PV who were followed up at İnönü University Faculty of Medicine Hospital Internal Medicine Hematology Clinic between 01.01.2009 and 01.012024 were included in the study. In the study, the patients' name, surname, protocol number, age, gender, risk scoring at the time of diagnosis, treatment started at the time of diagnosis and the last treatment applied during follow-up, laboratory (hemoglobin, hematocrit, leukocyte and platelet) values at diagnosis, blood biochemistry, serum EPO, LDH, Information including radiological imaging of the abdomen, bone marrow aspiration and biopsy data, JAK 2 gene mutation results and complications (arterial and venous thrombosis status at diagnosis and during follow-up) were retrospectively examined and recorded. Results: A statistically significant difference was detected in spleen size distribution at diagnosis according to JAK2v617F Allele load classification. In terms of WBC values, a statistically significant difference was detected between Positive 12.5-31% - Positive 78-100% in pairwise comparisons of JAK2v617F Allele load classification. According to the JAK2 classification, no statistically significant difference was found between the HGB, HCT, PLT, LDH values of individuals. Conclusion: In conclusion, JAK2v617F mutation is an integral part of PV disease. In our study, we aimed to explain the relationship between the allele load of this mutation and other parameters of the disease and to investigate its effect on the treatment of the disease. While a significant relationship was found in terms of splenomegaly and WBC values in our study, no significant relationship was found with other parameters. Further research on the clinical value of long-term monitoring of JAK2V617F allele burden may be valuable for inferring prognosis, guiding monitoring strategies, and designing treatment plans. Keywords: Polycythemia Vera, JAK2v617F mutation, Splenomegaly, Myeloproliferative Neoplasm
Introduction: Polycythemia Vera (PV) is one of the myeloproliferative diseases that are examples of clonal hematopoiesis. Clonal proliferation is a condition characterized by abnormal proliferation of all three cells in the granulocytic and thrombocytic series, especially the erythroid series. Material and Methods: 99 patients diagnosed with PV who were followed up at İnönü University Faculty of Medicine Hospital Internal Medicine Hematology Clinic between 01.01.2009 and 01.012024 were included in the study. In the study, the patients' name, surname, protocol number, age, gender, risk scoring at the time of diagnosis, treatment started at the time of diagnosis and the last treatment applied during follow-up, laboratory (hemoglobin, hematocrit, leukocyte and platelet) values at diagnosis, blood biochemistry, serum EPO, LDH, Information including radiological imaging of the abdomen, bone marrow aspiration and biopsy data, JAK 2 gene mutation results and complications (arterial and venous thrombosis status at diagnosis and during follow-up) were retrospectively examined and recorded. Results: A statistically significant difference was detected in spleen size distribution at diagnosis according to JAK2v617F Allele load classification. In terms of WBC values, a statistically significant difference was detected between Positive 12.5-31% - Positive 78-100% in pairwise comparisons of JAK2v617F Allele load classification. According to the JAK2 classification, no statistically significant difference was found between the HGB, HCT, PLT, LDH values of individuals. Conclusion: In conclusion, JAK2v617F mutation is an integral part of PV disease. In our study, we aimed to explain the relationship between the allele load of this mutation and other parameters of the disease and to investigate its effect on the treatment of the disease. While a significant relationship was found in terms of splenomegaly and WBC values in our study, no significant relationship was found with other parameters. Further research on the clinical value of long-term monitoring of JAK2V617F allele burden may be valuable for inferring prognosis, guiding monitoring strategies, and designing treatment plans. Keywords: Polycythemia Vera, JAK2v617F mutation, Splenomegaly, Myeloproliferative Neoplasm
Açıklama
Tıp Fakültesi, İç Hastalıkları Ana Bilim Dalı
Anahtar Kelimeler
İç Hastalıkları, Internal diseases
