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.
| Original language | English |
|---|---|
| Pages (from-to) | 1419-1422 |
| Number of pages | 4 |
| Journal | Blood |
| Volume | 106 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Aug 15 2005 |
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ASJC Scopus subject areas
- Hematology
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Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype. / Cazzaniga, Giovanni; Dell'Oro, Maria Grazia; Mecucci, Cristina; Giarin, Emanuela; Masetti, Riccardo; Rossi, Vincenzo; Locatelli, Franco; Martelli, Massimo F.; Basso, Giuseppe; Pession, Andrea; Biondi, Andrea; Falini, Brunangelo.
In: Blood, Vol. 106, No. 4, 15.08.2005, p. 1419-1422.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype
AU - Cazzaniga, Giovanni
AU - Dell'Oro, Maria Grazia
AU - Mecucci, Cristina
AU - Giarin, Emanuela
AU - Masetti, Riccardo
AU - Rossi, Vincenzo
AU - Locatelli, Franco
AU - Martelli, Massimo F.
AU - Basso, Giuseppe
AU - Pession, Andrea
AU - Biondi, Andrea
AU - Falini, Brunangelo
PY - 2005/8/15
Y1 - 2005/8/15
N2 - 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.
AB - 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.
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U2 - 10.1182/blood-2005-03-0899
DO - 10.1182/blood-2005-03-0899
M3 - Article
VL - 106
SP - 1419
EP - 1422
JO - Blood
JF - Blood
SN - 0006-4971
IS - 4
ER -