Novel t(7;10)(p22;p24) along with NPM1 mutation in patient with relapsed acute myeloid leukemia
| Autor: | Geetha Narayanan, Sureshkumar Raveendran, Hariharan Sreedharan, Santhi Sarojam |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
Adult
NPM1 Myeloid lcsh:Medicine Chromosomal translocation medicine.disease_cause Recurrence medicine Humans Mutation Nucleophosmin business.industry lcsh:R Nuclear Proteins Myeloid leukemia Exons General Medicine medicine.disease Leukemia Myeloid Acute Leukemia medicine.anatomical_structure fms-Like Tyrosine Kinase 3 Cytogenetic Analysis Cancer research Female Bone marrow business |
| Zdroj: | Annals of Saudi Medicine, Vol 33, Iss 6, Pp 619-622 (2013) |
| ISSN: | 0975-4466 0256-4947 |
| Popis: | Chromosomal abnormalities/genetic mutations associated with hematological malignancies alter the structure and function of genes controlling cell proliferation and differentiation through multiple and complex pathways, resulting different clinical outcomes. This is a case study of a lady presented with acute myeloid leukemia (AML M1) at our center who relapsed 10 years after the induction therapy. Cytogenetic and molecular analyses were performed in this case at the time of relapse to find out the chromosomal abnormalities and genetic abnormalities like FMS-like tyrosine kinase (FLT3) and nucleophosmin (NPM1) mutation. The cytogenetic analysis of bone marrow established a novel translocation t(7;10) (p22;q24) in 100% of the cells analyzed. Phytohaemagglutinin (PHA)-stimulated blood culture also revealed the same abnormality. Apart from this, the molecular analysis showed NPM1 exon 12 (hot-spot) mutation in this patient. This was the first report of novel chromosomal translocation in this subset of AML in which a new translocation along with NPM1 mutation was discussed. |
| Databáze: | OpenAIRE |
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