SEARCH:   Advanced

Blood, 15 September 2005, Vol. 106, No. 6, pp. 2183-2185. Prepublished online as a Blood First Edition Paper on May 31, 2005; DOI 10.1182/blood-2005-02-0531. This Article Full Text Full Text (PDF) All Versions of this Article: 2005-02-0531v1 106/6/2183    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Kratz, C. P. Articles by Loh, M. L. Search for Related Content PubMed PubMed Citation Articles by Kratz, C. P. Articles by Loh, M. L. Related Collections Neoplasia Oncogenes and Tumor Suppressors Signal Transduction Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  NEOPLASIA Brief report The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease Christian P. Kratz, Charlotte M. Niemeyer, Robert P. Castleberry, Mualla Cetin, Eva Bergsträsser, Peter D. Emanuel, Henrik Hasle, Gabriela Kardos, Cornelia Klein, Seiji Kojima, Jan Stary, Monika Trebo, Marco Zecca, Bruce D. Gelb, Marco Tartaglia, and Mignon L. Loh From the Department of Pediatrics and Adolescent Medicine, University of Freiburg, Germany; Department of Pediatric Hematology/Oncology and Division of Hematology/Oncology, Comprehensive Cancer Center, University of Alabama at Birmingham, AL; Department of Pediatric Hematology, Ihsan Dogramaci Children's Hospital, Hacettepe University, Ankara, Turkey; Department of Pediatrics, Zurich, Switzerland; Department of Pediatrics, Skejby Hospital, Aarhus University, Denmark; Dutch Childhood Oncology Group, the Hague, the Netherlands; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Pediatrics, University Hospital Motol, Prague, Czech Republic; St Anna Children's Hospital, Vienna, Austria; Oncoematologia Pediatrica, Instituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Policlinico San Matteo, Pavia, Italy; Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, NY; Dipartimento di Biologia Cellulare e Neuroscienze, Instituto Superiore di Sanità, Rome, Italy; and Department of Pediatrics and the Comprehensive Cancer Center, University of California at San Francisco, CA. Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML). Myeloproliferative disorders (MPDs), either transient or more fulminant forms, can also occur in infants with NS (NS/MPD). We identified PTPN11 mutations in blood or bone marrow specimens from 77 newly reported patients with JMML (n = 69) or NS/MPD (n = 8). Together with previous reports, we compared the spectrum of PTPN11 mutations in 3 groups: (1) patients with JMML (n = 107); (2) patients with NS/MPD (n = 19); and (3) patients with NS (n = 243). Glu76 was the most commonly affected residue in JMML (n = 45), with the Glu76Lys alteration (n = 29) being most frequent. Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. These data suggest that there is a genotype/phenotype correlation in the spectrum of PTPN11 mutations found in patients with JMML, NS/MPD, and NS. This supports the need to characterize the spectrum of hematologic abnormalities in individuals with NS and to better define the impact of the PTPN11 lesion on the disease course in patients with NS/MPD and JMML. (Blood. 2005;106:2183-2185) CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: Y. Ren, Z. Chen, L. Chen, N. T. Woods, G. W. Reuther, J. Q. Cheng, H.-g. Wang, and J. Wu Shp2E76K Mutant Confers Cytokine-independent Survival of TF-1 Myeloid Cells by Up-regulating Bcl-XL J. Biol. Chem., December 14, 2007; 282(50): 36463 - 36473. [Abstract] [Full Text] [PDF] C. Nava, N. Hanna, C. Michot, S. Pereira, N. Pouvreau, T. Niihori, Y. Aoki, Y. Matsubara, B. Arveiler, D. Lacombe, et al. Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome J. Med. Genet., December 1, 2007; 44(12): 763 - 771. [Abstract] [Full Text] [PDF] A. C.H. de Vries, R. W. Stam, C. P. Kratz, M. Zenker, C. M. Niemeyer, M. M. van den Heuvel-Eibrink, and on behalf of the European Working Group on childho Mutation analysis of the BRAF oncogene in juvenile myelomonocytic leukemia Haematologica, November 1, 2007; 92(11): 1574 - 1575. [Abstract] [Full Text] [PDF] R. J. Chan and G.-S. Feng PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase Blood, February 1, 2007; 109(3): 862 - 867. [Abstract] [Full Text] [PDF] L. Chen, S.-S. Sung, M. L. R. Yip, H. R. Lawrence, Y. Ren, W. C. Guida, S. M. Sebti, N. J. Lawrence, and J. Wu Discovery of a Novel Shp2 Protein Tyrosine Phosphatase Inhibitor Mol. Pharmacol., August 1, 2006; 70(2): 562 - 570. [Abstract] [Full Text] [PDF]

	Copyright © 2005 by American Society of Hematology         Online ISSN: 1528-0020