[ Title ]
- Molecular diagnostics of myeloproliferative neopla는
[ Journal ]
- EUROPEAN JOURNAL OF HAEMATOLOGY
[ Author ]
- Langabeer, SE
[ Abstract ]
- Since the discovery of the JAK2 V617F mutation in the majority of the
myeloproliferative neoplasms (MPN) of polycythemia vera, essential
thrombocythemia and primary myelofibrosis ten years ago, further
MPN-specific mutational events, notably in JAK2 exon 12, MPL exon 10 and
CALR exon 9 have been identified. These discoveries have been rapidly
incorporated into evolving molecular diagnostic algorithms. Whilst many
of these mutations appear to have prognostic implications, establishing
MPN diagnosis is of immediate clinical importance with selection,
implementation and the continual evaluation of the appropriate
laboratory methodology to achieve this diagnosis similarly vital. The
advantages and limitations of these approaches in identifying and
quantitating the common MPN-associated mutations are considered herein
with particular regard to their clinical utility. The evolution of
molecular diagnostic applications and platforms has occurred in parallel
with the discovery of MPN-associated mutations, and it therefore appears
likely that emerging technologies such as next-generation sequencing and
digital PCR will in the future play an increasing role in the molecular
diagnosis of MPN.
[ URL ]
- http://apps.webofknowledge.com/InboundService.do?SID=W1jSF44enaWOQu3pnYX&product=WOS&UT=WOS%3A000361489700002&SrcApp=Alerting&DestFail=http%3A%2F%2Fwww.webofknowledge.com&Init=Yes&action=retrieve&SrcAuth=Alerting&customersID=Alerting&Func=Frame&IsProductCode=Yes&mode=FullRecord