Genomic amplification of MYC as double minutes in a patient with APL-like leukemia
| Autor: | Sonja Zweegman, Gert J. Ossenkoppele, Pauline A. Merle, A H Loonen, Marisa Westers, Pino J. Poddighe, Hans Wessels, Shama L. Bhola, Marielle J. Wondergem |
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| Přispěvatelé: | Human genetics, Hematology laboratory, Hematology, CCA - Oncogenesis |
| Rok vydání: | 2014 |
| Předmět: |
Acute promyelocytic leukemia
medicine.medical_specialty Case Report Chromosomal translocation MYC Bioinformatics Biochemistry Cytogenetics Promyelocytic leukemia protein hemic and lymphatic diseases Genetics medicine Genetics(clinical) Double minutes neoplasms Molecular Biology Genetics (clinical) Biochemistry medical medicine.diagnostic_test biology business.industry Biochemistry (medical) Myeloid leukemia medicine.disease SNP-array Leukemia biology.protein Cancer research Molecular Medicine business Fluorescence in situ hybridization SNP array |
| Zdroj: | Poddighe, P J, Wessels, H, Merle, P, Westers, T M, Bhola, S L, Loonen, A, Zweegman, S, Ossenkoppele, G J & Wondergem, M J 2014, ' Genomic amplification of MYC as double minutes in a patient with APL-like leukemia ', Molecular cytogenetics, vol. 7, 67 . https://doi.org/10.1186/s13039-014-0067-6 Molecular cytogenetics, 7:67. BioMed Central Molecular Cytogenetics |
| ISSN: | 1755-8166 |
| Popis: | Background Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) characterized by a PML-RARA fusion due to a translocation t(15;17). Its sensitivity to treatment with all-trans retinoic acid (ATRA), which causes differentiation of the abnormal promyelocytes, combined with anthracycline based chemotherapy makes it the best curable subtype of acute myeloid leukemia. A rapid and accurate diagnosis is needed in the first place to prevent (more) bleeding problems. Here we present a patient with a leukemia with an APL-like morphology but no detectable PML-RARA fusion, as demonstrated by RT-PCR and cytogenetic analysis. Results Unexpectedly, karyotyping revealed numerous double minutes (dmins). Fluorescence in situ hybridization (FISH) with DNA probes specific for the MYC-region showed the presence of multiple MYC amplicons. SNP-array analysis uncovered amplification of the 8q24.13-q24.21 region, including the MYC-gene, flanked by deletions in 8q24.13 and 8q24.21-q24.22, and a homozygous deletion in 9p21.3, flanked by heterozygous deletions in the same chromosome region. Conclusions The diagnosis was revised to AML, not otherwise specified (AML, NOS) and therefore therapy with ATRA was discontinued. |
| Databáze: | OpenAIRE |
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