Prospective application of a multiplex reverse transcription-polymerase chain reaction assay for the detection of balanced translocations in leukaemia: a single-laboratory study of 390 paediatric and adult patients
| Autor: | Olesen, Lene Hyldahl, Clausen, Niels, Dimitrijevic, Andreja, Kerndrup, Gitte, Kjeldsen, Eigil, Hokland, Peter |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: |
Adult
Aged 80 and over Chromosome Aberrations Leukemia Myeloproliferative Disorders Neoplasm Residual Adolescent Reverse Transcriptase Polymerase Chain Reaction Infant Newborn Infant Middle Aged Precursor Cell Lymphoblastic Leukemia-Lymphoma Translocation Genetic Diagnosis Differential Leukemia Myeloid hemic and lymphatic diseases Child Preschool Acute Disease Humans Prospective Studies Child Aged |
| Zdroj: | Olesen, L H, Clausen, N, Dimitrijevic, A, Kerndrup, G, Kjeldsen, E & Hokland, P 2004, ' Prospective application of a multiplex reverse transcription-polymerase chain reaction assay for the detection of balanced translocations in leukaemia: a single-laboratory study of 390 paediatric and adult patients ', British Journal of Haematology, vol. 127, no. 1, pp. 59-66 . https://doi.org/10.1111/j.1365-2141.2004.05161.x |
| DOI: | 10.1111/j.1365-2141.2004.05161.x |
| Popis: | Udgivelsesdato: 2004-Oct The upfront application of molecular methods for identifying the fusion transcripts arising from balanced translocations in haematopoietic malignancies has several advantages: sensitivity is independent of its frequency, i.e. rare ones are not missed, cytogenetically cryptic aberrations are identified and it provides a platform for minimal residual disease (MRD) detection. Employing a multiplex reverse transcription polymerase chain reaction (RT-PCR) assay identifying 27 fusion transcripts we prospectively analysed blood and/or bone marrow samples from 390 patients referred for diagnosis and treatment for acute leukaemia and chronic myeloproliferative disorders (CMPD) from a geographically well-defined region in Denmark. A total of 233 patients were diagnosed with acute myeloid leukaemia (AML), 95 with acute lymphoblastic leukaemia (ALL) origin and 62 patients were recorded as CMPD. Twenty-three percent AML, 32% ALL and 55% CMPD patients exhibited chromosomal aberrations detected by the multiplex RT-PCR. Cytogenetically cryptic translocations were seen in 15% of the cases. Conversely, the cytogenetic analysis identified chromosomal aberrations other than translocations in 45% of AML cases and 63% of ALL cases. We conclude that, while the fraction of translocation positive leukaemia patients in an unselected cohort is lower than hitherto believed, a molecular approach to their diagnosis is worthwhile, partly for identifying cryptic and rare translocations, partly for monitoring MRD. |
| Databáze: | OpenAIRE |
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