Myeloproliferative neoplasiar og JAK2-mutasjonar

The impact of JAK2V617F mutation on Philadelphia-negative myeloproliferative neoplasms

“…In a study including 102 ET patients, females were reported to more frequently harbor the JAK2V617F mutation and JAK2V617F-mutated patients were found to be older and had higher leucocyte counts [25].Another study including 150 ET patients showed that JAKV617F-mutated subgroup was associated with advanced age, higher Hgb level and leukocyte counts [12]. In the same study, gender, platelet count, palpable splenomegaly, thrombosis and hemorhage at presentation and at follow-up showed no difference according to JAK2V61F mutation [12].In a meta-analysis however, it was reported that JAK2V617F increased the risk of arterial and venous thrombosis in ET [5].Another meta-analysis including 325 published articles also supported that JAK2V617F-positive ET was associated with increasing odds of thrombosis [26].In a comprehensive study including 395 ET patients,patients with JAK2V617F mutation had significantly higher Hgb level and leukocyte counts but lower platelet counts compared to patients without mutation [27].In a study including 275 ET patients, patients with the JAK2V617F mutation were older and displayed higher Hgb and Hct levels and higher incidence of splenomegaly, but lower platelet count and lower incidence of hemorrhagic events compared with patients without mutation whereas gender, leukocyte count, incidence of thrombosis was comparable between the groups [30].In a study, JAK2V617F-positive ET patients displayed higher Hgb and Hct levels whereas leukocyte and platelet counts, gender, age, disease duration did not differ between JAK2V617F-positive and -negative ET patients [31].In another study including 92 ET patients, significantly higher values were also found for Hgb level and leukocyte count in the JAK2V617F mutation-positive group yet platelet count, LDH level, age, gender and thrombosis did not differ between JAK2V617Fpositive and -negative patients [32]. In another study, it was demonstrated that JAK2V617F-mutated ET patients had advanced age, higher leukocyte count and Hgb level whereas platelet count was similar between the groups [33].In a study including 111 ET patients, the presence of JAK2V617F mutation correlated with older age, higher levels of Hgb and Htc levels, greater probability of having splenomegaly at diagnosis while mutation positive and negative groups showed no difference with respect to gender, probability of hemorrhagic events, leukocyte count and LDH levels [13].…”

“…Several studies have reported the comparison of ET patients according to JAK2V617F mutation [4,5,9,12,13,[24][25][26][27][28][29][30][31][32][33][34][35][36].In a study including 218 consecutive ET patients, the presence of JAK2V617F mutation retained a negative prognostic impact for predicting thrombosis [4].In another study including 53 ET patients, JAK2V617F mutation showed significant correlation with higher leukocyte counts, higher Hgb levels and thrombotic events while age, gender, platelet count, frequency of splenomegaly and bleeding events did not differ between the JAK2617F-positive and JAK2V617F-negative ET patients [24]. In a study including 102 ET patients, females were reported to more frequently harbor the JAK2V617F mutation and JAK2V617F-mutated patients were found to be older and had higher leucocyte counts [25].Another study including 150 ET patients showed that JAKV617F-mutated subgroup was associated with advanced age, higher Hgb level and leukocyte counts [12].…”

Evaluation of the Relationship between JAK2V617F Mutation and Platelet Functions in Myeloproliferative Neoplazms

“…'nın (13) yaptığı ET tanılı toplam 75 hastayı kapsayan çalışmada, 37'si JAK2V617F mutasyonlu ve 38'i JAK2 wild tip hastalar arteryel ve venöz trombotik olayların varlığı açısından karşılaştırılmış ve bu hastalarda PFA-100 ile, ADP-kollagen ve epinefrin-kollagen çalışıldığında cihaz kapatma zamanının sağlıklı kontrol grubuna göre ET tanılı hastalarda daha çok uzadığı görülmüştür. ADP-kollagen ve epinefrin-kollagen sonuçları değerlendirildiğinde, JAK2V617F mutasyonu taşıyan hastalarla wild tip mutasyonu olan hastalar karşılaştırıldığında ise istatiksel açıdan önemli bir farklılık saptanmamıştır (12) . Hattori ve ark.…”

En mann i 70-årene med ryggsmerter, mageplager og utslett

“…Tidligere ble systemisk mastocytose klassifisert som en variant av myeloproliferativ neoplasi (17). I henhold til WHO-klassifikasjonen fra 2016 regnes nå tilstanden som en egen sykdomsentitet på grunn av unike kliniske og patologiske trekk med et svaert variabelt sykdomsforløp (18).…”

“…To uker etter at pasienten kom hjem fra sykehuset, viste blodprøver tatt hos fastlegen nytilkommet anemi med hemoglobin 11,5 g/dl (13,(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17). Automatisk differensialtelling tatt ved fastlegekontoret anga «blastalarm», og det ble utført supplerende blodutstryk som ble vurdert av hematolog ved lokalsykehuset.…”