Clonal heterogeneity in patients with cytogenetically normal acute myeloid leukemia with NPM1 mutations. Issue 5 (May 2013)

• Record Type: Journal Article
• Authors: Dvorakova, Dana; Racil, Zdenek; Borsky, Marek; Robesova, Blanka; Jeziskova, Ivana; Razga, Filip; Lengerova, Martina; Mayer, Jiri
• Is Part Of: Leukemia & lymphoma. Volume 54:Issue 5(2013:May)
• Page Start: 1056
• Page End: 1060
• Publication Date: 2013-05
• Subjects: Leukemia -- Periodicals; Lymphomas -- Periodicals; 616.99419
• DOI: 10.3109/10428194.2012.734618
• Languages: English
• ISSNs: 1042-8194

Abstract

<abstract> <title>Abstract</title> <p>The <italic>nucleophosmin 1</italic> (<italic>NPM1</italic>) gene is one of the most commonly mutated genes in acute myeloid leukemia (AML), occurring in approximately 60% of adult cytogenetically normal AML (CN-AML). To date, these mutations have only been detected in cells of the myeloid lineage, whereas the potential clonal involvement of the lymphoid lineage is controversial. In our study, <italic>NPM1</italic> mutations were analyzed using the highly sensitive real-time quantitative polymerase chain reaction (RQ-PCR) method on fluorescence-activated cell-sorted (FACS) purified different circulating mature cell populations in patients with <italic>NPM1</italic>-mutated CN-AML. As expected, <italic>NPM1</italic> mutations were found in myeloid blood cells, including CD14⁺ monocytes and CD66b⁺ granulocytes. However, we were also able to detect <italic>NPM1</italic> mutations in CD19⁺ B cells and CD3⁻14⁻16⁺56⁺ natural killer (NK) cells, albeit at lower levels. Surprisingly, mutations were also detected in CD3⁺ T cells from all analyzed patients. Our data demonstrate that <italic>NPM1</italic>-mutated CN-AML originates in an early stem cell with both lymphoid and myeloid differentiation potential.</p> </abstract>