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EnglishNucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumor-suppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1-mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments.
Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype / Cazzaniga, G; Dell'Oro, Mg; Mecucci, C; Giarin, E; Masetti, R; Rossi, V; Locatelli, Franco; Martelli, Mf; Basso, G; Pession, A; Biondi, A; Falini, B.. - In: BLOOD. - ISSN 0006-4971. - STAMPA. - 106:4(2005), pp. 1419-1422.
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| Titolo: | Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype |
| Autori: | |
| Data di pubblicazione: | 2005 |
| Rivista: | |
| Citazione: | Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype / Cazzaniga, G; Dell'Oro, Mg; Mecucci, C; Giarin, E; Masetti, R; Rossi, V; Locatelli, Franco; Martelli, Mf; Basso, G; Pession, A; Biondi, A; Falini, B.. - In: BLOOD. - ISSN 0006-4971. - STAMPA. - 106:4(2005), pp. 1419-1422. |
| Abstract: | Nucleophosmin (NPM) is a nucleocytoplasmic shuttling protein involved in leukemia-associated chromosomal translocations, and it regulates the alternate reading frame (ARF)-p53 tumor-suppressor pathway. Recently, it has been demonstrated that mutations of the NPM1 gene alter the protein at its C-terminal, causing its cytoplasmic localization. Cytoplasmic NPM was detected in 35% of adult patients with primary non-French-American-British (FAB) classification M3 acute myeloid leukemia (AML), associated mainly with normal karyotype. We evaluated the prevalence of the NPM1 gene mutation in non-M3 childhood AML patients enrolled in the ongoing Associazione Italiana di Ematologia e Oncologia Pediatrica (AIEOP-AML02) protocol in Italy. NPM1 mutations were found in 7 (6.5%) of 107 successfully analyzed patients. NPM1-mutated patients carried a normal karyotype (7/26, 27.1%) and were older in age. Thus, the NPM1 mutation is a frequent abnormality in AML patients without known genetic marker; the mutation may represent a new target to monitor minimal residual disease in AML and a potential candidate for alternative and targeted treatments. |
| Handle: | http://hdl.handle.net/11571/108932 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
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