Prognostic involvement of nucleophosmin mutations in acute myeloid leaukemia

Asian Pacific Journal of Cancer Prevention

Volumn 14, Issue 10, 2013, Pages 5615-5620

  Shahab, Sadaf ^a   Shamsi, Tahir Sultan ^a   Ahmed, Nuzhat ^a  

^a National Institute of Blood Disease and Bone Marrow Transplantation   (Pakistan)

Author keywords

AML; Exon 12; Normal karyotype; NPM mutations; Nucleophosmin; Prognostic marker

Indexed keywords

NUCLEAR PROTEIN; NUCLEOPHOSMIN;

ACUTE GRANULOCYTIC LEUKEMIA; GENETICS; HUMAN; MUTATION; PATHOLOGY; PROGNOSIS;

HUMANS; LEUKEMIA, MYELOID, ACUTE; MUTATION; NUCLEAR PROTEINS; PROGNOSIS;

EID: 84890494158     PISSN: 15137368     EISSN: 2476762X     Source Type: Journal    
DOI: 10.7314/APJCP.2013.14.10.5615     Document Type: Short Survey

References (70)

1. Ahmad F, Mandava S, Das BR (2009). Mutations of NPM1 gene in de novo acute myeloid leukaemia: determination of incidence, distribution pattern and identification of two novel mutations in Indian population. Hematol Oncol, 27, 90-7.
2. Albiero E, Madeo D, Giaretta I, et al (2006). A novel mutation in the exon 11 of nucleophosmin (NPM1) gene leads to a truncated form of the protein lacking the C-terminal NESmotif. Haematologica, 91, 237.
3. Ammatuna E, Noguera NI, Zangrilli D, et al (2005). Rapid detection of nucleophosmin (NPM1) mutations in acute myeloid leukemia by denaturing HPLC. Clin Chem, 51, 2165-7.
4. Becker H, Marcucci G, Maharry K, et al (2010). Favorable prognostic impactof NPM1 mutations in older patients withcytogenetically normal de novo acute myeloidleukemia and associated gene- and microRNA-expression signatures: a cancer andleukemia group B study. J Clin Oncol, 28, 596-604.
5. Bertwistle D, Sugimoto M, Sherr CJ (2004). Physical and functional interactions of the ARF tumor suppressor protein with nucleophosmin/B23. Mol Cell Biol, 24, 985-96.
6. Boissel N, Renneville A, Biggio V, et al (2005). Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype. Blood, 106, 3618-20.
7. Bolli N, Nicoletti I, De Marco MF, et al (2007). Born to be exported: COOH-terminal nuclear export signals of different strength ensure cytoplasmic accumulation of nucleophosmin leukemic mutants. Cancer Res, 67, 6230-7.
8. Bonetti P, Davoli T, Sironi C, et al (2008). Nucleophosmin and its AML-associated mutant regulate c-Myc turnover through Fbw7 gamma. J Cell Biol, 182, 19-26.
9. Boonthimat C, Thongnoppakhun W, Auewarakul CU (2008). Nucleophosmin mutation in Aoutheast Asian acute myeloid leukemia: eight novel variants, FLT3 coexistence and prognostic impact of NPM1/FLT3 mutations. Haematologica, 93, 1565-9.
10. Brown P, McIntyre E, Rau R, et al (2007). The incidence and clinical significance of nucleophosmin mutations in childhood AML. Blood, 110, 979-85.
11. Braoudaki M, Chrissa P, Katerina K, et al (2010). The frequency of NPM1 mutations in childhood acute myeloid leukemia. J Hematol Oncol, 3, 41.
12. Cazzaniga G, Dell'Oro MG, Mecucci C, et al (2005). Nucleophosmin mutations in childhood acute myelogenous leukemia with normal karyotype. Blood, 106, 1419-22.
13. Chang JH, Olson MO (1990). Structure of the gene for rat nucleolar protein B23. J Biol Chem, 265, 18227-33.
14. Chou WC, Tang JL, Lin LI, et al (2006). Nucleophosmin mutations in de novo acute myeloid leukemia: the agedependent incidences and the stability during disease evolution. Cancer Res, 66, 3310-6.
15. Colombo E, Bonetti P, Lazzerini Denchi E, et al (2005). Nucleophosmin is required for DNA integrity and p19ARF protein stability. Mol Cell Biol, 25, 8874-86.
16. Colombo E, Marine JC, Danovi D, Falini B, Pelicci PG (2002). Nucleophosmin regulates the stability andtranscriptional activity of p53. Nat Cell Biol, 4, 529-33.
17. Colombo E, Martinelli P, Zamponi R, et al (2006). Delocalization and destabilization of the ARF tumor suppressor by the leukemia-associated NPM mutant. Cancer Res, 66, 3044-50.
18. Dalia N, Mohammed AR, Dominique B (2011). Incidence and prognostic value of NPM1 and FLT3 gene mutations in AML with normal karyotype. Open J Hematol, 5, 14-20.
19. den Besten W, Kuo ML, Williams RT, Sherr CJ (2005). Myeloid leukemia-associated nucleophosmin mutants perturb p53-dependent and independent activities of the ARF tumor suppressor protein. Cell Cycle, 4, 1593-8.
20. Dohner K, Schlenk RF, Habdank M, et al (2005). Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics: interaction with other gene mutations. Blood, 106, 3740-6.
21. Falini B, Bolli N, Liso A, et al (2009). Altered nucleophosmin transport in acute myeloid leukaemia with mutated NPM1: molecular basis and clinical implications. Leukemia, 23, 1731-43.
22. Falini B, Bolli N, Shan J, et al (2006). Both carboxy-terminus NES motif and mutated tryptophan(s) are crucial for aberrant nuclear export of nucleophosmin leukemic mutants in NPMcp AML. Blood, 107, 4514-23.
23. Falini B, Mecucci C, Tiacci E, et al (2005). Cytoplasmic nucleophosmin in acute myelogenous leukemia with abnormal karyotype. N Engl J Med, 352, 254-66.
24. Falini B, Nicoletti I, Bolli N, et al (2007). Translocations and mutations involving the nucleophosmin (NPM1) gene in lymphomas and leukemias. Haematologica, 92, 519-32.
25. Falini B, Martelli MP, Bolli N (2011). Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity? Blood, 117, 1109-20.
26. Gjerset RA, Bandyopadhyay K (2006). Regulation ofp14ARF through subnuclear compartmentalization. Cell Cycle, 5, 686-90.
27. Gorello P, Cazzaniga G, Alberti F, et al (2006). Quantitative assessment of minimal residual disease in acute myeloid leukemia carrying nucleophosmin (NPM1) gene mutations. Leukemia, 20, 1103-8.
28. Grisendi S, Bernardi R, Rossi M, et al (2005). Role of nucleophosmin in embryonic development and tumorigenesis. Nature, 437, 147-53.
29. Haferlach C, Mecucci C, Schnittger S, et al (2009). AML with mutated NPM1 carrying a normal or aberrant karyotype show overlapping biologic, pathologic, immunophenotypic, and prognostic features. Blood, 114, 3024-32.
30. Hafez M, Ye F, Jackson K, et al (2010). Performance and clinical evaluation of a sensitive multiplex assay for the rapid detection of common NPM1 mutations. J Mol Diagn, 12, 629-35.
31. Herrera JE, Correia JJ, Jones AE, Olson MO (1996). Sedimentation analyses of the salt- and divalent metal ion induced oligomerization of nucleolarprotein B23. Biochemistry, 35, 2668-73.
32. Hingorani K, Szebeni A, Olson MO (2000). Mapping the functional domains of nucleolar protein B23. J Biol Chem, 275, 24451-7.
33. Huang Q, Chen W, Gaal KK, et al (2008). A rapid, one step assay for simultaneous detection of FLT3/ITDand NPM1 mutations in AML with normal cytogenetics. Br J Haematol, 142, 480-501.
34. Jeon Y, Seo SW, Park S, et al (2013). Identification of two novel NPM1 mutations in patients with acute myeloid leukemia. Ann Lab Med, 33, 60-4.
35. Kassem N, Hamid AA, Attia T, et al (2011). Novel mutations of the nucleophosmin (NPM-1) gene in Egyptian patients with acute myeloid leukemia: a pilot study. J Egypt Natl Cancer Inst, 23, 73-8.
36. Kazem AH, Mikhael IL, Ghanem AM (2011). Cytoplasmic nucleophosmin (cNPM) in acute myeloid leukaemia: Relation to disease characteristics. AJM, 47, 225-35.
37. Kim YK, Kim HN, Lee SR, et al (2010). Prognostic significance of nucleophosmin mutations and FLT3 internal tandem duplication in adult patients with cytogenetically normal acute myeloid leukemia. Korean J Hematol, 45, 36-45.
38. Krstovski N, Tosic N, Janic D, et al (2010). Incidence of FLT3 and nucleophosmin genemutations in childhood acute myeloid leukemia: Serbian experience and the review of the literature. Med Oncol, 27, 640-5.
39. Kurki S, Peltonen K, Latonen L, et al (2004). Nucleolarprotein NPM interacts with HDM2 and protectstumor suppressor protein p53 from HDM2-mediated degradation. Cancer Cell, 5, 465-75.
40. Kuo ML, den Besten W, Bertwistle D, Roussel MF, Sherr CJ (2004). N-terminal polyubiquitination and degradation of the ARF tumor suppressor. Genes Dev, 18, 1862-74.
41. Kuzmanovic M, Tosic N, Colovic N, et al (2012). Mutations in Serbian adult patients with acute myeloid leukemia. Acta Haematol, 128, 203-12.
42. Laughlin TS, Becker MW, Liesveld JL, et al (2008). Rapid method for detection of mutations in the nucleophosmin gene in acute myeloid leukemia. J Molecular Diag, 10, 338-45.
43. Lee SY, Park JH, Kim S, et al (2005). A proteomics approach for the identification of nucleophosmin and heterogeneous nuclear ribonucleoprotein C1/C2 as chromatin- binding proteins in response to DNA double-strand breaks. Biochem J, 388, 7-15.
44. Li J, Sejas DP, Rani R, et al (2006). Nucleophosmin regulates cell cycle progression and stress response in hematopoietic stem/progenitor cells. J Biol Chem, 281, 16536-45.
45. Lin Ll, Lin TC, Chou WC, et al (2006). A novel fluorescencebased multiplex PCR assay for rapid simultaneous detection of CEBPA mutations and NPM mutations in patients with acute myeloid leukemias. Leukemia, 20, 1899-903.
46. Luo J, Qi C, Xu W, et al (2010). Cytoplasmic expression of nucleophosmin accurately predicts mutation in the nucleophosmin gene in patients with acute myeloid leukemia and normal karyotype. Am J Clin Pathol, 133, 34-40.
47. Mariano AR, Colombo E, Luzi L, et al (2006). Cytoplasmic localization of NPM in myeloid leukemias is a functional nuclear export signal. Oncogene, 25, 4376-80.
48. Mattsson G, Turner SH, Cordell J, et al (2010). Can cytoplasmic nucleophosmin be detected by immunocytochemical staining of cell smears in acute myeloid leukemia? Haematologica, 95, 670-3.
49. Micol JB, Boissel N, Renneville A, (2009) et al. The role of cytogenetic abnormalities in acute myeloid leukemia with NPM1 mutations and no FLT3 internal tandem duplication. Blood, 114, 4601-2.
50. Mori Y, Yoshimoto G, Kumano T, et al (2007). Distinctive expression of myelomonocytic markers and down-regulation of CD34 in acute myelogenous leukaemia with FLT3 tandem duplication and nucleophosmin mutation. Eur J Hematol, 79, 17-24.
51. Mrózek K, Marcucci G, Paschka P, Whitman SP, Bloomfield CD (2007). Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics: are we ready for a prognostically prioritized molecular classification? Blood, 109, 431-48.
52. Mullighan CG, Kennedy A, Zhou X, et al (2007). Pediatric acute myeloid leukemia with NPM1 mutations ischaracterised by a gene expression profile with dysregulatedHOX gene expression distinct from MLL-rearranged leukemias. Leukemia, 21, 2000-9.
53. Okuwaki M, Matsumoto K, Tsujimoto M, Nagata K (2001). Function of nucleophosmin/B23, a nucleolar acidic protein, as a histone chaperone. FEBS Lett, 506, 272-6.
54. Oppliger Leibundgut E, Porret NA, Bienz Muggli M, et al (2012). Rapid and highly specific screening for NPM1 mutations in acute myeloid leukemia. Ann Hematol, 92, 173-7.
55. Ottone T, Ammatuna E, Lavorgna S (2008). An allele-specific rt- PCR assay to detect type A mutation of the nucleophosmin-1 gene in acute myeloid leukemia. J Mol Diagn, 10, 212-6.
56. Palmisano M, Grafone T, Ottaviani E, et al (2007). NPM1 mutations are more stable than FLT3mutations during the course of disease in patients with acute myeloid leukemia. Haematologica, 92, 1268-9.
57. Roti G, Rosati R, Bonasso R, et al (2006). Denaturing highperformance liquid chromatography: a valid approach for identifying NPM1 mutations in acute myeloid leukemia. J Mol Diagn, 8, 254-9.
58. Ruan GR, Li JL, Qin YZ, et al (2008). Nucleophosmin mutations in Chinese adults with acute myelogenous leukemia. Ann Hematol, 88, 159-66.
59. Schneider F, Hoster E, Schneider S, et al (2012). Age-dependent frequencies of NPM1 mutationsand FLT3-ITD in patients with normal karyotype AML (NK-AML). Ann Hematol, 91, 9-18.
60. Schnittger S, Schoch C, Kern W, et al (2005). Nucleophosmin gene mutations are predictors of favorable prognosis inacute myelogenous leukemia with a normal karyotype. Blood, 106, 3733-9.
61. Shimada A, Taki T, Kubota C, et al (2007). Nonucleophosmin mutations in pediatric acute myeloid leukemiawith normal karyotype: a study of the Japanese childhood AML cooperative study group. Leukemia, 21, 1307.
62. Suzuki T, Kiyoi H, Ozeki K, et al (2005). Clinical characteristics and prognostic implications of NPM1 mutations in acute myeloid leukemia. Blood, 106, 2854-61.
63. Szankasi P, Jama M, Bahler DW (2008). A new DNA-based test for detection of nucleophosmin exon 12 mutations by capillary electrophoresis. J Mol Diagn, 10, 236-41.
64. Tan A, Westerman DA, Carney DA, et al. (2008) Detection of NPM1 exon 12 mutations and FLT3-internal tandem duplications by high resolution melting analysis in normal karyotype acute myeloid leukemia. J Hematol Oncol, 1, 10.
65. Taussig DC, Vargaftig J, Miraki-Moud F, et al (2010). Leukemia initiating cells from some acute myeloid leukemia patients with mutated nucleophosmin reside in the CD34fraction. Blood, 115, 1976-84.
66. Thiede C, Creutzig E, Reinhardt D, Ehninger G, Creutzig U (2007). Different types of NPM1 mutations in children and adults: evidence for an effect of patient age on the prevalence of the TCTG-tandem duplication in NPM1-exon 12. Leukemia, 21, 366-7.
67. Thiede C, Koch S, Creutzig E, et al (2006). Prevalence and prognostic impact of NPM1 mutations in 1485 adult patients with acute myeloid leukemia (AML). Blood, 107, 4011-20.
68. Thiede C, Steudel C, Mohr B, et al (2002). Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood, 99, 4326-35.
69. Verhaak RG, Goudswaard CS, van P W, et al (2005). Mutations in nucleophosmin (NPM1) in acute myeloid leukemia (AML): association with other gene abnormalities and previously established gene expression signatures and their favorable prognostic significance. Blood, 106, 3747-54.
70. Wu MH, Chang JH, Yung BY (2002). Resistance to UVinduced cellkilling in nucleophosmin/B23 overexpressed NIH 3T3 fibroblasts: enhancement of DNA repair and upregulation of PCNA in association with nucleophosmin/B23 overexpression. Carcinogenesis, 23, 93-100.