FLT3 TKD D835 (PB)

קליני

FLT3 TKD mutation analysis for AML patients in order to establish treatment decisions and prognosis estimation

Actual therapy concepts try to modify the intensity of therapy of acute myeloid leukemia (AML) in accordance to the individual risk of relapse. Karyotype represents the strongest prognostic parameter in AML. However, 45% of all AML patients show a normal karyotype and thus an intermediate prognosis. Because AML with normal karyotype is considered a heterogeneous disease with respect to molecular aspects, the definition of suitable molecular markers for the determination of prognosis and for minimal residual disease (MRD) detection is of increasing importance. In addition to the juxtamembrane domain mutations, mutations in the tyrosine kinase domain (FLT3-TKD mutations) have been described in AML. FLT3-TKD mutations are small mutations in the activation loop of FLT3, mostly representing point mutations in codon D835 or deletions of codon I836. They induce constitutive tyrosine phosphorylation leading to activation of the receptor tyrosine kinase and are supposed to represent gain-of-function mutations. Because of the high frequency of FLT3 mutations in AML, concentration focuses on the development of FLT3 inhibitors for treatment of this AML subgroup. Several selective FLT3 tyrosine kinase inhibitors have demonstrated in vitro and in vivo activity. Because of the low frequency, the prognostic significance of FLT3-TKD mutations is still unclear.

דיגום ושינוע הבדיקה

יש לקחת דם ורידי באמצעות Vacutainer‏

דם פריפרי

דגימה טרייה ללא קרישי דם

מבחנת ספירה ‏

violet

2 ml PB

המעבדה להשתלת מוח-עצם

טרי / ניתן לשמור בקירור

טמפ' החדר

שיטות ביצוע

PCR & genescane analysis

10 ימים, למעט מקרים דחופים

במקרים דחופים בלבד

מידע נוסף

FLT3 Mutation Status -UK NEQAS

819041010

380

83896