Document Detail


Molecular diagnosis of the myeloproliferative neoplasms: UK guidelines for the detection of JAK2 V617F and other relevant mutations.
MedLine Citation:
PMID:  23057517     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Molecular genetic assays for the detection of the JAK2 V617F (c.1849G>T) and other pathogenetic mutations within JAK2 exon 12 and MPL exon 10 are part of the routine diagnostic workup for patients presenting with erythrocytosis, thrombocytosis or otherwise suspected to have a myeloproliferative neoplasm. A wide choice of techniques are available for the detection of these mutations, leading to potential difficulties for clinical laboratories in deciding upon the most appropriate assay, which can lead to problems with inter-laboratory standardization. Here, we discuss the most important issues for a clinical diagnostic laboratory in choosing a technique, particularly for detection of the JAK2 V617F mutation at diagnosis. The JAK2 V617F detection assay should be both specific and sensitive enough to detect a mutant allele burden as low as 1-3%. Indeed, the use of sensitive assays increases the detection rate of the JAK2 V617F mutation within myeloproliferative neoplasms. Given their diagnostic relevance, it is also beneficial and relatively straightforward to screen JAK2 V617F negative patients for JAK2 exon 12 mutations (in the case of erythrocytosis) or MPL exon 10 mutations (thrombocytosis or myelofibrosis) using appropriate assays. Molecular results should be considered in the context of clinical findings and other haematological or laboratory results.
Authors:
Anthony J Bench; Helen E White; Letizia Foroni; Anna L Godfrey; Gareth Gerrard; Susanna Akiki; Abida Awan; Ian Carter; Andrea Goday-Fernandez; Stephen E Langabeer; Tim Clench; Jordan Clark; Paul A Evans; David Grimwade; Anna Schuh; Mary F McMullin; Anthony R Green; Claire N Harrison; Nicholas C P Cross;
Related Documents :
10851377 - A three-sister sibship of gerstmann-sträussler-scheinker disease with a cjd phenotype.
15170227 - Identification and characterization of a novel mouse prion gene allele.
24193707 - Preferential transposition ofac to linked sites in arabidopsis.
11464247 - Muc1 gene polymorphism in the gastric carcinogenesis pathway.
9394417 - Genotyping by pcr-elisa of a complex polymorphic region that contains one to four copie...
18632557 - A germ-line-selective advantage rather than an increased mutation rate can explain some...
Publication Detail:
Type:  Journal Article; Practice Guideline; Research Support, Non-U.S. Gov't     Date:  2012-10-11
Journal Detail:
Title:  British journal of haematology     Volume:  160     ISSN:  1365-2141     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2012-12-11     Completed Date:  2013-05-09     Revised Date:  2014-02-24    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  25-34     Citation Subset:  IM    
Copyright Information:
© 2012 Blackwell Publishing Ltd.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Bone Marrow Neoplasms / diagnosis*,  enzymology,  genetics*
DNA Mutational Analysis
Genetic Predisposition to Disease
Great Britain
Humans
Janus Kinase 2 / genetics*
Mutation
Myeloproliferative Disorders / diagnosis*,  enzymology,  genetics*
Grant Support
ID/Acronym/Agency:
079249//Wellcome Trust; G0800784//Medical Research Council; MR/J006742/1//Medical Research Council
Chemical
Reg. No./Substance:
EC 2.7.10.2/JAK2 protein, human; EC 2.7.10.2/Janus Kinase 2

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Macrolide resistance determinants among Streptococcus pneumoniae isolates from carriers in Central G...
Next Document:  Development of Mechanism-based Structural Alerts for Respiratory Sensitisation Hazard Identification...