Abstract
Acute lymphoblastic leukemia (ALL) is a heterogeneous disease which requires a risk-stratified approach for appropriate treatment. Specific chromosomal translocations within leukemic blasts are important prognostic factors that allow identification of relevant subgroups. In this study, we developed a multiplex RT-PCR assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2A- PBX1). A total of 214 diagnosed ALL samples from both adult and pediatric ALL and 14 cases of CML patients (154 bone marrow and 74 peripheral blood samples) were assessed for specific chromosomal translocations by cytogenetic and multiplex RT-PCR assays. The results showed that 46 cases of ALL and CML (20.2%) contained the fusion transcripts. Within the positive ALL patients, the most prevalent cryptic translocation observed was mBCR-ABL (p190) at 8.41%. In addition, other genetic rearrangements detected by the multiplex PCR were 4.21% TEL-AML1 and 2.34% E2A-PBX1, whereas MLL-AF4 exhibited negative results in all tested samples. Moreover, MBCR-ABL was detected in all 14 CML samples. In 16 samples of normal karyotype ALL (n=9), ALL with no cytogentic result (n=4) and CML with no Philadelphia chromosome (n=3), fusion transcripts were detected. Multiplex RT-PCR provides a rapid, simple and highly sensitive method to detect fusion transcripts for prognostic and risk stratification of ALL and CML patients.
Highlights
Acute lymphoblastic leukemia (ALL) is a heterogeneous group of clonal hematopoietic stem cell malignancies with variable clinical represents, cell morphologies, immunophenotypes, genetic alterations, prognosis, disease progressions, as well as treatment outcomes (Piwkham et al, 2015)
We developed a multiplex reverse transcriptase-PCR assay (RT-PCR) assay for detection of the 4 most frequent translocations in ALL (BCR-ABL, TEL-AML1, MLL-AF4, and E2APBX1)
The drug is able to induce complete hematologic response as well as complete cytogenetic response (CCyR) in a majority of patients and approximately 80 % of patients show complete remission. Molecular genetic testing such as PCR-based technology is necessary for the monitoring of minimal residual disease in chronic myeloid leukemia (CML) who displays the disappearance of Ph chromosome (CCyR)
Summary
Acute lymphoblastic leukemia (ALL) is a heterogeneous group of clonal hematopoietic stem cell malignancies with variable clinical represents, cell morphologies, immunophenotypes, genetic alterations, prognosis, disease progressions, as well as treatment outcomes (Piwkham et al, 2015). In almost last two decades, several multiplex RT-PCR systems have been developed for routinely used as a screening test for revealing recurrent genetic alterations in leukemia based on its ability to simultaneously detect multiple genetic aberrant/chromosomal translocations (van Dongen et al, 1999; Salto-Tellez et al, 2003; Dunlap et al, 2012; Xiong et al, 2013). Materials and Methods: A total of 214 diagnosed ALL samples from both adult and pediatric ALL and 14 cases of CML patients (154 bone marrow and 74 peripheral blood samples) were assessed for specific chromosomal translocations by cytogenetic and multiplex RT-PCR assays. Conclusions: Multiplex RT-PCR provides a rapid, simple and highly sensitive method to detect fusion transcripts for prognostic and risk stratification of ALL and CML patients
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