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1.
Int J Lab Hematol ; 37(6): 766-73, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26189968

ABSTRACT

INTRODUCTION: Philadelphia-negative chronic myeloproliferative neoplasms (MPNs) are clonal disorders that present JAK2(V617F) mutation in 50-95% of cases. The main objective of this study was the comparison of two PCR methods, real-time (qPCR) and droplet digital PCR (DD-PCR) for detection of the JAK2(V617F) mutation, to assess analytic sensitivity, specificity, and feasibility of the two methods. METHODS: Ninety-nine patients with MPN of 225 presenting the JAK2(V617F) mutation by qPCR have been evaluated by DD-PCR also. RESULTS: We demonstrated an absolute concordance in terms of specificity between the two methods, DD-PCR showing a higher sensitivity (half a log higher than qPCR). As expected, a progressive increase of mutant allele burden was observed from essential thrombocythemia (ET) to polycythemia vera (PV) and primary myelofibrosis (PMF) to secondary myelofibrosis (SMF). CONCLUSION: In conclusion, our study showed that DD-PCR could represent a new and promising technological evolution for detection of JAK2 mutation in MPNs.


Subject(s)
Janus Kinase 2/genetics , Mutation , Myeloproliferative Disorders/diagnosis , Myeloproliferative Disorders/genetics , Real-Time Polymerase Chain Reaction/methods , Adult , Aged , Aged, 80 and over , Alleles , Chronic Disease , Female , Fusion Proteins, bcr-abl/genetics , Humans , Male , Middle Aged , Real-Time Polymerase Chain Reaction/standards , Reproducibility of Results , Sensitivity and Specificity , Young Adult
2.
Pharmacogenomics J ; 14(4): 328-35, 2014 Aug.
Article in English | MEDLINE | ID: mdl-24589908

ABSTRACT

The aim of the study was to investigate any possible influence of polymorphisms of transmembrane transporters human organic cation transporter 1 (hOCT1), ABCB1, ABCG2 on imatinib pharmacokinetics in 33 men and 27 women (median age and range, 56 and 27-79 years, respectively) affected by chronic myeloid leukemia. A population pharmacokinetic analysis was performed to investigate imatinib disposition in every patient and the role of transporter polymorphisms. Results showed that the α1-acid glycoprotein and the c.480C>G genotype of hOCT1 had a significant effect on apparent drug clearance (CL/F) being responsible, respectively, for a 20% and 10% decrease in interindividual variability (IIV) of CL/F (from 50.1 up to 19.6%). Interestingly, 25 patients carrying at least one polymorphic c.480 G allele had a significant lower CL/F value with respect to the 35 c.480CC individuals (mean±s.d., 9.6±1.6 vs 12.1±2.3 l h(-1), respectively; P<0.001). In conclusion, the hOCT1 c.480C>G SNP may significantly influence imatinib pharmacokinetics, supporting further analyses in larger groups of patients.


Subject(s)
Antineoplastic Agents/pharmacokinetics , Benzamides/pharmacokinetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/drug therapy , Organic Cation Transporter 1/genetics , Piperazines/pharmacokinetics , Polymorphism, Single Nucleotide , Pyrimidines/pharmacokinetics , ATP Binding Cassette Transporter, Subfamily B/genetics , Adult , Aged , Benzamides/therapeutic use , Female , Genotype , Haplotypes , Humans , Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive/genetics , Male , Metabolic Clearance Rate , Middle Aged , Piperazines/therapeutic use , Pyrimidines/therapeutic use
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