Abstract
Background: Diagnosis of acute myeloid leukemia (AML) has to be established by immunophenotyping and molecular testing for presence of recurrent genetic aberrations. This helps clinician to plan therapeutic protocol as AMLs are a heterogenous group of malignancies having varied response to treatment and prognosis. Multiplex Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is method capable of detecting 28 known fusion-transcripts of acute leukemia including cryptic translocations which would otherwise be missed on conventional cytogenetics. Methods: In this case series, a total of 19 consecutive patients diagnosed as AML were included. Morphology and cytochemical character of blasts were ascertained. Immunophenotying was carried out by flowcytometry. Messenager RNA (mRNA) was extracted from peripheral blood or bone marrow aspirates and converted to Complimentary DNA (cDNA). The cDNA was then subjected to multiplex RT-PCR for presence of fusion-transcripts using primers from Hemavision kit, DNA technologies, Denmark. The amplified product was correlated with the morphological, cytochemical and immunophenotypic character of AML. Result: Of the 19 cases of AML, 12 cases showed amplification of a fusion transcript. Most cases with fusion-transcripts showed an expected blast morphology and immunophenotype. Multiplex RT-PCR picked up presence of rare translocations such as t(16,21), t(9;22), t(6;9) and t(3;5), with unique clinicopathological features. Conclusion: Multiplex RT-PCR is a unique assay to identify multiple known recurrent genetic aberrations, including many splice variants. This aids in accurate subtyping of AML and helps the clinician to formulate a specific treatment plan for the patient. DOI: 10.21276/apalm.2017.1071
Highlights
The World Health Organisation (WHO) classification of Acute Myeloid Leukemia (AML) mandates the present day diagnostic approach to encompass morphology, cytochemistry, immunophenotying and molecular testing.[1]
Multiplex Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a unique assay to identify multiple known recurrent genetic aberrations, including many splice variants. This aids in accurate subtyping of acute myeloid leukemia (AML) and helps the clinician to formulate a specific treatment plan for the patient
A total of 19 consecutive cases of AML diagnosed on morphology, cytochemistry and immunophenotyping from July 2010 to August 2012 at a tertiary care centre were included in this prospective pilot study, following clearance from the institutional ethics committee and an informed consent from the patients
Summary
The World Health Organisation (WHO) classification of Acute Myeloid Leukemia (AML) mandates the present day diagnostic approach to encompass morphology, cytochemistry, immunophenotying and molecular testing.[1]. There is growing evidence that the disease defining criteria which are prognostically pertinent and therapy oriented are elucidated by the genetic signature of that particular AML subtype. PCR is very much the keystone method of genetic testing as it is a convenient instrument for identification of disease defining recurrent genetic anomalies. Diagnosis of acute myeloid leukemia (AML) has to be established by immunophenotyping and molecular testing for presence of recurrent genetic aberrations. This helps clinician to plan therapeutic protocol as AMLs are a heterogenous group of malignancies having varied response to treatment and prognosis. Multiplex Reverse Transcriptase Polymerase Chain Reaction (RT-PCR) is a method capable of detecting 28 known fusion-transcripts of acute leukemia including cryptic translocations which would otherwise be missed on conventional cytogenetics
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
