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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 FieldValue
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
 
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<date.issued>2012</date.issued>
<description.abstract>&#65279;Myeloproliferative 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.</description.abstract>
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<publisher>The University of Hong Kong (Pokfulam, Hong Kong)</publisher>
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<rights>Creative Commons: Attribution 3.0 Hong Kong License</rights>
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<title>A rapid molecular testing system for differential diagnosis of myeloproliferative neoplasms</title>
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<date.hkucongregation>2012</date.hkucongregation>
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