التفاصيل البيبلوغرافية
| العنوان: |
Rapid Screening of ASXL1, IDH1, IDH2,and c-CBLMutations in de NovoAcute Myeloid Leukemia by High-Resolution Melting |
| المؤلفون: |
Ibáñez, Mariam, Such, Esperanza, Cervera, José, Luna, Irene, Gómez-Seguí, Inés, López-Pavía, María, Dolz, Sandra, Barragán, Eva, Fuster, Oscar, Llop, Marta, Rodríguez-Veiga, Rebeca, Avaria, Amparo, Oltra, Silvestre, Senent, M. Leonor, Moscardó, Federico, Montesinos, Pau, Martínez-Cuadrón, David, Martín, Guillermo, Sanz, Miguel A. |
| المصدر: |
The Journal of Molecular Diagnostics; November 2012, Vol. 14 Issue: 6 p594-601, 8p |
| مستخلص: |
Recently, many novel molecular abnormalities were found to be distinctly associated with acute myeloid leukemia (AML). However, their clinical relevance and prognostic implications are not well established. We developed a new combination of high-resolution melting assays on a LightCycler 480 and direct sequencing to detect somatic mutations of ASXL1(exon 12), IDH1(exon 4), IDH2(exon 4), and c-CBL(exons 8 and 9) genes to know their incidence and prognostic effect in a cohort of 175 patients with de novoAML: 16 patients (9%) carried ASXL1mutations, 16 patients had IDHvariations (3% with IDH1R132and 6% with IDH2R140), and none had c-CBLmutations. Patients with ASXL1mutations did not harbor IDH1, FLT3,or CEBPAmutations, and a combination of ASXL1and IDH2mutations was found only in one patient. In addition, we did not find IDH1and FLT3or CEBPAmutations concurrently or IDH2with CEBPA. IDH1and IDH2mutations were mutually exclusive. Alternatively, NPM1mutations were concurrently found with ASXL1, IDH1,or IDH2with a variable incidence. Mutations were not significantly correlated with any of the clinical and biological features studied. High-resolution melting is a reliable, rapid, and efficient screening technique for mutation detection in AML. The incidence for the studied genes was in the range of those previously reported. We were unable to find an effect on the outcome. |
| قاعدة البيانات: |
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