Novel t(7;10)(p22;p24) along with NPM1 mutation in patient with relapsed acute myeloid leukemia.
PMID 24413869 | PMCID PMC6074915 | DOI 10.5144/0256-4947.2013.619 · Annals of Saudi medicine · 2013 · View on PubMed ↗
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.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | NPM1 | “Novel t(7;10)(p22;p24) along with NPM1 mutation in patient with relapsed acute myeloid leukemia.” | 0.98 | hgnc_dict_v1 |
| gene | FLT3 | “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.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Novel t(7;10)(p22;p24) along with NPM1 mutation in patient with relapsed acute myeloid leukemia.” | 0.98 | phenotype_alias_lexicon_v2 |