Testing for Factor V Leiden (FVL) and Prothrombin G20210A Genetic Variants.

Laboratory testing for Factor V Leiden and Prothrombin G20210A genetic variants permits defining the increased relative risk for venous thromboembolism in selected patients. Laboratory DNA testing for these variants may be undertaken by a variety of methods, including fluorescence-based quantitative real-time PCR (qPCR). This is a rapid, simple, robust, and reliable method to identify genotypes of interest.

The Contemporary Approach to CALR-Positive Myeloproliferative Neoplasms.

mutations are a revolutionary discovery and represent an important hallmark of myeloproliferative neoplasms (MPN), especially essential thrombocythemia and primary myelofibrosis. To date, several mutations were identified, with only frameshift mutations linked to the diseased phenotype. It is of diagnostic and prognostic importance to properly define the type of mutation and subclassify it according to its structural similarities to the classical mutations, a 52-bp deletion (type 1 mutation) and a 5-bp insertion (type 2 mutation), using a statistical approximation algorithm (AGADIR).

Improved survival of AML patients by addition of cladribine to standard induction chemotherapy.

One hundred and eight consecutive acute myeloid leukemia (AML) patients aged 60 or less treated with two different induction regimens were retrospectively analyzed. Induction regimen for the first 50 consecutive patients was DA3+7, and the following 58 patients received cladribine 5 mg/m on days 1 through 5 in addition to DA3+7 (DAC). There were no significant differences in the median age and the proportion of patients with unfavorable characteristics between the two groups.

CALR mutations in a cohort of JAK2 V617F negative patients with suspected myeloproliferative neoplasms.

Suspicion of myeloproliferative neoplasms (MPNs) and especially essential thrombocythemia (ET) in primary care is often based solely on blood counts, with patients referred to a haematologist without a thorough evaluation. We retrospectively assessed the role of calreticulin gene (CALR) mutations in the diagnosis of MPN in this population. We studied CALR mutations in 524 JAK2 V617F-negative patients with suspected MPN.

Concurrent acquired inhibitors to factor VIII and IX, a laboratory artifact: a case report.

Acquired inhibitors to coagulation factors other than factor VIII are extremely rare. We describe a case of a 59-year-old woman with abnormal bleeding, diagnosed with concurrent inhibitor antibodies to factor VIII and IX by Bethesda testing. We demonstrate that anti-FVIII antibodies of a very high titre are capable of disturbing the aPTT-based Bethesda assay, resulting in falsely-positive antibodies to factor IX.

Monitoring of imatinib targeted delivery in human leukocytes.

The success of imatinib therapy in chronic myeloid leukemia is highly influenced by its active transport into target cells. However, the methodology for analytical evaluation of intracellular drug concentration is rare and usually reliant upon the use of radioactively labeled drugs. More specifically, there is no published method available in the literature for the determination of imatinib concentration in granulocytes.

Simultaneous measurement of imatinib, nilotinib and dasatinib in dried blood spot by ultra high performance liquid chromatography tandem mass spectrometry.

Imatinib, dasatinib and nilotinib are three tyrosine kinase inhibitors currently used to treat Bcr-Abl1 positive chronic myelogenous leukaemia (CML). However, achieving maximum benefit with these drugs may require optimal dosing and adherence to therapy. In those cases, therapeutic drug monitoring (TDM) can be a useful tool in managing patients with CML.

Factor V Leiden and FII 20210 testing in thromboembolic disorders.

Factor V Leiden and prothrombin (F2) c.20210G>A mutation detection are very important in order to define the increased relative risk for venous thromboembolism in selected patients. Use of DNA-based methods to detect both mutations has become widely available in clinical diagnostic laboratories, including fluorescence-based quantitative real-time PCR (qPCR).

Glutamate dehydrogenase activity in lymphocytes of B-cell chronic lymphocytic leukaemia patients.

Objectives: To investigate the pattern of glutamate dehydrogenase (GLDH) activity, GLUD1 and GLUD2 expressions in peripheral blood mononuclear cells (PBMC) of untreated B-chronic lymphocytic leukemia (B-CLL) in healthy individuals (HI) and patients with infectious mononucleosis (IM).

Design And Methods: GLDH activity was determined in a supernatant obtained from pelleted PBMC. GLUD1 and GLUD2 mRNA expression was determined using a quantitative real-time polymerase chain reaction.