The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease

Blood

Volumn 106, Issue 6, 2005, Pages 2183-2185

  Kratz, Christian P ^b   Niemeyer, Charlotte M ^b   Castleberry, Robert P ^b   Cetin, Mualla ^b   Bergsträsser, Eva ^b   Emanuel, Peter D ^b   Hasle, Henrik ^b   Kardos, Gabriela ^b   Klein, Cornelia ^b   Kojima, Seiji ^b   Stary, Jan ^b   Trebo, Monika ^b   Zecca, Marco ^b   Gelb, Bruce D ^b   Tartaglia, Marco ^b   Loh, Mignon L ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMIC ACID; ISOLEUCINE; LYSINE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; BONE MARROW; DISEASE COURSE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; GERM LINE; HUMAN; HUMAN CELL; HUMAN TISSUE; JUVENILE MYELOMONOCYTIC LEUKEMIA; MAJOR CLINICAL STUDY; MYELOPROLIFERATIVE DISORDER; NOONAN SYNDROME; PRIORITY JOURNAL; PROTO ONCOGENE; PTPN11 GENE; SOMATIC MUTATION;

EID: 24744455046     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2005-02-0531     Document Type: Article

References (31)

1. Neel BG, Gu H, Pao L. The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling. Trends Biochem Sci. 2003;28:284-293.
2. Tartaglia M, Niemeyer CM, Shannon KM, Loh ML. SHP-2 and myeloid malignancies. Curr Opin Hematol. 2004;11:44-50.
3. Tartaglia M, Niemeyer CM, Fragale A, et al. Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet. 2003;34:148-150.
4. Loh ML, Vattikuti S, Schubbert S, et al. Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood. 2004;103:2325-2331.
5. Loh ML, Reynolds MG, Vattikuti S, et al. PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. Leukemia. 2004;18:1831-1834.
6. Tartaglia M, Martinelli S, Cazzaniga G, et al. Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia. Blood. 2004;104:307-313.
7. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet. 2001;29:465-468.
8. Tartaglia M, Kalidas K, Shaw A, et al. PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet. 2002; 70:1555-1563.
9. Tartaglia M, Gelb BD. Noonan syndrome and related disorders: genetics and pathogenesis. Annu Rev Genomics Hum Genet. In press. 2005.
10. Bader-Meunier B, Tchemia G, Mielot F, et al. Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr. 1997;130:885-889.
11. Fukuda M, Horibe K, Miyajima Y, Matsumoto K, Nagashima M. Spontanous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. J Pediatr Hematol Oncol. 1997;19:177-179.
12. Choong K, Freedmann MH, Chitayat D, Kelly EN, Taylor G, Zipusky A. Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol. 1999;21:523-537.
13. Silvio F, Carlo L, Elena B, Nicoletta B, Daniela F, Roberto M. Transient abnormal myelopoiesis in Noonan syndrome. J Pediatr Hematol Oncol. 2002;24:763-764.
14. Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T. A3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. Am J Med Genet. 2004;128A:63-66.
15. Niemeyer CM, Arico M, Basso G, et al. Chronic myelbmonocytic leukemia in childhood: a retrospective analysis of 110 cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG-MDS). Blood. 1997;89:3534-3543.
16. Niemeyer CM, Kratz C. Juvenile myelomonocytic leukemia. Curr Oncol Rep. 2003;5:510-515.
17. Emanuel PD. Juvenile myelomonocytic leukemia. Curr Hematol Rep. 2004;3:203-209.
18. Locatelli F, Nollke P, Zecca M, et al. Hematopoietic stem cell transplantation (HSCT) in children with juvenile myelomonocytic leukemia (JMML): results of the EWOG-MDS/EBMT trial. Blood. 2005;105:410-419.
19. Loh ML, Martinelli S, Cordeddu V, et al. Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. Leuk Res. 2005;29:459-462.
20. Bentires-Alj M, Paez JG, David FS, et al. Activating mutations of the Noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Cancer Res. 2004;64:6816-6820.
21. Yoshida R, Hasegawa T, Hasegawa Y, et al. Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. J Clin Endocrinol Metab. 2004;89:3359-3364.
22. Musante L, Kehl HG, Majewski F, et al. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 2003;11:201-206.
23. Kosaki K, Suzuki T, Muroya K, et al. PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab. 2002;87:3529-3533.
24. Zenker M, Buheitel G, Rauch R, et al. Genotype-phenotype correlations in Noonan syndrome. J Pediatr. 2004;144:368-374.
25. Maheshwari M, Belmont J, Fernbach S, et al. PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat. 2002;20:298-304.
26. Araki T, Mohi MG, Ismat FA, et al. Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation. Nat Med. 2004;10:849-857.
27. Hot P, Pluskey S, Dhe-Paganon S, Eck MJ, Shoelson SE. Crystal structure of the tyrosine phosphatase SHP-2. Cell. 1998;92:441-450.
28. Mohi MG, Williams IR, Dearolf CR, et al. Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations. Cancer Cell. 2005;7:179-191.
29. Chan RJ, Leedy MB, Munugalavadla V, et al. Human somatic PTPN11 mutations induce hematopoietic cell hypersensitivity to granulocyte-macrophage colony stimulating factor. Blood. 2005;105:3737-3742.
30. Schubbert S, Lieuw K, Rowe SL, et al. Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. Blood. Prepublished on March 10, 2005, as DOI 10.1182/ blood-2004-11-4207.
31. (Now available as Blood. 2005;106:311-317).