Postgraduate Thesis: A rapid molecular testing system for differential diagnosis of myeloproliferative neoplasms

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TitleA rapid molecular testing system for differential diagnosis of myeloproliferative neoplasms
AuthorsLeung, Kin-sang
梁建生
Issue Date2012
PublisherThe University of Hong Kong (Pokfulam, Hong Kong)
AbstractMyeloproliferative neoplasms include a heterogeneous group of stem cell disorders with overproduction of myeloid cells. They have very different clinical courses and prognosis and are amenable to specific targeted therapy. A prompt and accurate diagnosis is therefore very important. Genetic characterisation plays an important role in diagnosis and classification of these disorders. BCR-ABL1fusion gene and JAK2V617F mutation are the particular major molecular markers to be detected because of availability of targeted therapy. In this study, a new molecular testing system was developed for the differential diagnosis of myeloproliferative neoplasms. A multiplex reverse-transcriptase polymerase chain reaction was developed for fast detection of JAK2 V617F mutation and BCR-ABL1fusion simultaneously. It was demonstrated to be fast and highly sensitive and specific for the mutations as validated by analysis of clinical samples. The sensitivity limit was well suited for clinical diagnosis. There was great potential saving in consumables and manpower with a much shortened turn-around-time in most cases when compared to conventional diagnostic protocol.
DegreeMaster of Medical Sciences
SubjectMyeloproliferative disorders - Molecular diagnosis.
Dept/ProgramPathology
DC Field
Value
dc.contributor.authorLeung, Kin-sang
dc.contributor.author梁建生
dc.date.hkucongregation2012
dc.date.issued2012
dc.description.abstractMyeloproliferative neoplasms include a heterogeneous group of stem cell disorders with overproduction of myeloid cells. They have very different clinical courses and prognosis and are amenable to specific targeted therapy. A prompt and accurate diagnosis is therefore very important. Genetic characterisation plays an important role in diagnosis and classification of these disorders. BCR-ABL1fusion gene and JAK2V617F mutation are the particular major molecular markers to be detected because of availability of targeted therapy. In this study, a new molecular testing system was developed for the differential diagnosis of myeloproliferative neoplasms. A multiplex reverse-transcriptase polymerase chain reaction was developed for fast detection of JAK2 V617F mutation and BCR-ABL1fusion simultaneously. It was demonstrated to be fast and highly sensitive and specific for the mutations as validated by analysis of clinical samples. The sensitivity limit was well suited for clinical diagnosis. There was great potential saving in consumables and manpower with a much shortened turn-around-time in most cases when compared to conventional diagnostic protocol.
dc.description.naturepublished_or_final_version
dc.description.thesisdisciplinePathology
dc.description.thesislevelmaster's
dc.description.thesisnameMaster of Medical Sciences
dc.identifier.hkulb4833414
dc.languageeng
dc.publisherThe University of Hong Kong (Pokfulam, Hong Kong)
dc.relation.ispartofHKU Theses Online (HKUTO)
dc.rightsThe author retains all proprietary rights, (such as patent rights) and the right to use in future works.
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
dc.source.urihttp://hub.hku.hk/bib/B48334145
dc.subject.lcshMyeloproliferative disorders - Molecular diagnosis.
dc.titleA rapid molecular testing system for differential diagnosis of myeloproliferative neoplasms
dc.typePG_Thesis