Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype

Giovanni Cazzaniga, Maria Grazia Dell'Oro, Cristina Mecucci, Emanuela Giarin, Riccardo Masetti, Vincenzo Rossi, Franco Locatelli, Massimo F. Martelli, Giuseppe Basso, Andrea Pession, Andrea Biondi, Brunangelo Falini

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1419-1422
Number of pages4
Issue number4
Publication statusPublished - Aug 15 2005

ASJC Scopus subject areas

  • Hematology


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