קליני
מטרת הבדיקהMPL mutation analysis for myeloproliferative disorders
מידע קליניThe myeloproliferative disorders, comprising essential thrombocythemia (ET), polycythemia vera (PV) and idiopathic myelofibrosis (IMF), are hematopoietic stem cell disorders characterized by the overproduction of one or more mature myeloid lineages. Although the clonal nature of these disorders was recognized some 3 decades ago, their molecular basis remained obscure until the identification of the activating JAK2 V617F mutation.The vast majority of patients with PV harbor a mutation in JAK2, with JAK2 V617F seen in around 97% and mutations in JAK2 exon 12 found in many of the remainder.PV patients with JAK2 exon 12 mutations differ from those with JAK2 V617F, presenting at a younger age with higher hemoglobin levels, lower platelet counts, and lower white cell counts at diagnosis. The JAK2 V617F mutation is present in around half of patients with ET and is associated with features resembling a “forme-fruste” of PV, including increased erythropoiesis, increased granulopoiesis, and increased rates of venous thrombosis compared with the JAK2 V617F− group. The JAK2 V617F mutation is also present in around half of patients with IMF, and is associated with higher neutrophil and platelet counts at diagnosis, reduced likelihood of transfusion dependence, and probably a poorer survival compared with the JAK2 V617F− group. Mutations in the juxtamembrane region of the thrombopoietin receptor MPL have recently been described in IMF and as a rare occurrence in ET. Biochemical and cell line studies indicate an autoinhibitory role for this region, with disruption leading to receptor activation in the absence of thrombopoietin binding. Expression of the MPL W515L allele resulted in cytokine-independent growth of 32D, UT7, and BaF3 cell lines, together with constitutive phosphorylation of JAK2, STAT3, STAT5, AKT and ERK. Transplantation of mice with bone marrow expressing the MPL W515L allele resulted in a myeloproliferative disorder (MPD)–like disease characterized by marked th
דיגום ושינוע הבדיקה
הכנת החולה לפני הדיגוםאספירציית מח עצם
סוג הדגימהמח עצם
מגבלות הבדיקהדגימה ללא קרישי דם
כלי קיבול לדגימהמבחנת ספירה
צבע פקקviolet
נפח דגימה מינימאלי נדרש1-2 ml BM
מען למשלוח בדיקותהמעבדה להשתלת מח-עצם
תנאי לקיחה ושימור טרם שינועטרי / ניתן לשמור בקירור
תנאי שינועטמפ' החדר
שיטות ביצוע
שיטת ביצוע הבדיקהPCR & genescane analysis
משך זמן מקבלת הדגימה ועד הפצת התשובה14 ימים, למעט מקרים דחופים
האם הבדיקה מבוצעת גם בערבים וסופ"ש?במקרים דחופים בלבד
מידע נוסף
בקרת איכות חיצוניתMyeloproliferative Neoplasms
קוד ביצוע בדיקה819013100
מס׳384
קוד מחיר משרד הבריאות83896