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
Lene Hyldahl OlesenP Hokland

Abstract

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,...Continue Reading

References

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Citations

Mar 1, 2012·Annals of Hematology·Min-hang ZhouLi Yu
Oct 4, 2005·The Cancer Journal·Charles G MullighanJames R Downing
Mar 26, 2011·Journal of Pediatric Hematology/oncology·Ester Augusta Lima Vinhas MarquesNorma Lucena-Silva
Jul 20, 2012·Mediterranean Journal of Hematology and Infectious Diseases·Prateek BhatiaSubhash Varma
Aug 18, 2005·European Journal of Haematology·Lene Hyldahl OlesenPeter Hokland
Mar 1, 2013·European Journal of Haematology·Trine SilkjaerCharlotte Guldborg Nyvold
Sep 3, 2011·International Journal of Laboratory Hematology·A J Bench
Aug 6, 2013·International Journal of Laboratory Hematology·J Seong ParkS H Jeong
Feb 7, 2012·Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B·Min-Jung SongSun-Hee Kim
Jul 27, 2021·Clinics in Laboratory Medicine·Marian H Harris

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