Acute promyelocytic leukemia: the study of t(15;17) translocation by fluorescent in situ hybridization, reverse transcriptase-polymerase chain reaction and cytogenetic techniques
| Autor: | Maria Stella Figueiredo, Maria de Lourdes Lopes Ferrari Chauffaille, S. V. Antunes, R. Beltrani, José Kerbauy, Mihoko Yamamoto |
|---|---|
| Přispěvatelé: | Universidade Federal de São Paulo (UNIFESP) |
| Rok vydání: | 2001 |
| Předmět: |
Male
Pathology Neoplasm Residual Physiology Chromosomal translocation Biochemistry Translocation Genetic Leukemia Promyelocytic Acute General Pharmacology Toxicology and Pharmaceutics Child lcsh:QH301-705.5 In Situ Hybridization Fluorescence Aged 80 and over Electrophoresis Agar Gel Gene Rearrangement lcsh:R5-920 Reverse Transcriptase Polymerase Chain Reaction General Neuroscience Karyotype General Medicine Middle Aged PML/RARA genem rearrangement Leukemia Real-time polymerase chain reaction Genetic Techniques Female lcsh:Medicine (General) Adult Acute promyelocytic leukemia medicine.medical_specialty Immunology RT-PCR Biophysics T-15 Biology FISH medicine Humans Aged Chromosomes Human Pair 15 Cytogenetics Cell Biology Gene rearrangement acute promyelocytic leukemia medicine.disease Molecular biology karyotype lcsh:Biology (General) Karyotyping Chromosomes Human Pair 17 |
| Zdroj: | Brazilian Journal of Medical and Biological Research v.34 n.6 2001 Brazilian Journal of Medical and Biological Research Associação Brasileira de Divulgação Científica (ABDC) instacron:ABDC Brazilian Journal of Medical and Biological Research, Vol 34, Iss 6, Pp 735-743 (2001) Repositório Institucional da UNIFESP Universidade Federal de São Paulo (UNIFESP) instacron:UNIFESP Brazilian Journal of Medical and Biological Research, Volume: 34, Issue: 6, Pages: 735-743, Published: JUN 2001 |
| ISSN: | 0100-879X |
| Popis: | Acute promyelocytic leukemia (AML M3) is a well-defined subtype of leukemia with specific and peculiar characteristics. Immediate identification of t(15;17) or the PML/RARA gene rearrangement is fundamental for treatment. The objective of the present study was to compare fluorescent in situ hybridization (FISH), reverse transcriptase-polymerase chain reaction (RT-PCR) and karyotyping in 18 samples (12 at diagnosis and 6 after treatment) from 13 AML M3 patients. Bone marrow samples were submitted to karyotype G-banding, FISH and RT-PCR. At diagnosis, cytogenetics was successful in 10 of 12 samples, 8 with t(15;17) and 2 without. FISH was positive in 11/12 cases (one had no cells for analysis) and positivity varied from 25 to 93% (mean: 56%). RT-PCR was done in 6/12 cases and all were positive. Four of 8 patients with t(15;17) presented positive RT-PCR as well as 2 without metaphases. The lack of RT-PCR results in the other samples was due to poor quality RNA. When the three tests were compared at diagnosis, karyotyping presented the translocation in 80% of the tested samples while FISH and RT-PCR showed the PML/RARA rearrangement in 100% of them. Of 6 samples evaluated after treatment, 3 showed a normal karyotype, 1 persistence of an abnormal clone and 2 no metaphases. FISH was negative in 4 samples studied and 2 had no material for analysis. RT-PCR was positive in 4 (2 of which showed negative FISH, indicating residual disease) and negative in 2. When the three tests were compared after treatment, they showed concordance in 2 of 6 samples or, when there were not enough cells for all tests, concordance between karyotype and RT-PCR in one. At remission, RT-PCR was the most sensitive test in detecting residual disease, as expected (positive in 4/6 samples). An incidence of about 40% of 5' breaks and 60% of 3' breaks, i.e., bcr3 and bcr1/bcr2, respectively, was observed. Universidade Federal de São Paulo (UNIFESP) Escola Paulista de Medicina Disciplina de Hematologia e Hemoterapia UNIFESP, EPM, Disciplina de Hematologia e Hemoterapia SciELO |
| Databáze: | OpenAIRE |
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