|
|
Blood, 15 July 2004, Vol. 104, No. 2, pp. 307-313.
Prepublished online as a Blood First Edition Paper on February 24, 2004; DOI 10.1182/blood-2003-11-3876.
 Previous Article | Table of Contents | Next Article 
PLENARY PAPERS
Genetic evidence for lineage-related and differentiation stage–related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia
Marco Tartaglia,
Simone Martinelli,
Giovanni Cazzaniga,
Viviana Cordeddu,
Ivano Iavarone,
Monica Spinelli,
Chiara Palmi,
Claudio Carta,
Andrea Pession,
Maurizio Aricò,
Giuseppe Masera,
Giuseppe Basso,
Mariella Sorcini,
Bruce D. Gelb, and
Andrea Biondi
From the Dipartimento di Biologia cellulare e Neuroscienze and Dipartimento Ambiente e connessa prevenzione primaria, Istituto Superiore di Sanità, Rome, Italy; Centro Ricerca M. Tettamanti, Clinica Pediatrica Università di Milano Bicocca, Monza, Italy; Dipartimento di Pediatria, Università di Padova, Padova, Italy; Dipartimento di Pediatria, Università di Bologna, Bologna, Italy; U.O. Onco-Ematologia Pediatrica, Ospedale dei Bambini "G. Di Cristina," Palermo, Italy; and Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, NY.
SHP-2 is a protein tyrosine phosphatase functioning as signal transducer downstream to growth factor and cytokine receptors. SHP-2 is required during development, and germline mutations in PTPN11, the gene encoding SHP-2, cause Noonan syndrome. SHP-2 plays a crucial role in hematopoietic cell development. We recently demonstrated that somatic PTPN11 mutations are the most frequent lesion in juvenile myelomonocytic leukemia and are observed in a smaller percentage of children with other myeloid malignancies. Here, we report that PTPN11 lesions occur in childhood acute lymphoblastic leukemia (ALL). Mutations were observed in 23 of 317 B-cell precursor ALL cases, but not among 44 children with T-lineage ALL. In the former, lesions prevalently occurred in TEL-AML1- cases with CD19+/CD10+/cyIgM- immunophenotype. PTPN11, NRAS, and KRAS2 mutations were largely mutually exclusive and accounted for one third of common ALL cases. We also show that, among 69 children with acute myeloid leukemia, PTPN11 mutations occurred in 4 of 12 cases with acute monocytic leukemia (FAB-M5). Leukemia-associated PTPN11 mutations were missense and were predicted to result in SHP-2 gain-of-function. Our findings provide evidence for a wider role of PTPN11 lesions in leukemogenesis, but also suggest a lineage-related and differentiation stage-related contribution of these lesions to clonal expansion. (Blood. 2004;104:307-313)
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
Related Article in Blood Online:
-
A "Ras-in-ALL" model of signaling?
- Mignon Loh and Kevin M. Shannon
Blood 2004 104: 297-298.
[Full Text]
[PDF]
This article has been cited by other articles:
|
|
|
|
 
A. K. Purdy and K. S. Campbell
SHP-2 Expression Negatively Regulates NK Cell Function
J. Immunol.,
December 1, 2009;
183(11):
7234 - 7243.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Gutierrez, T. Sanda, R. Grebliunaite, A. Carracedo, L. Salmena, Y. Ahn, S. Dahlberg, D. Neuberg, L. A. Moreau, S. S. Winter, et al.
High frequency of PTEN, PI3K, and AKT abnormalities in T-cell acute lymphoblastic leukemia
Blood,
July 16, 2009;
114(3):
647 - 650.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
Y.-H. Kuo, S. K. Zaidi, S. Gornostaeva, T. Komori, G. S. Stein, and L. H. Castilla
Runx2 induces acute myeloid leukemia in cooperation with Cbf{beta}-SMMHC in mice
Blood,
April 2, 2009;
113(14):
3323 - 3332.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Wang, S. Lindsey, I. Konieczna, L. Bei, E. Horvath, W. Huang, G. Saberwal, and E. A. Eklund
Constitutively Active SHP2 Cooperates with HoxA10 Overexpression to Induce Acute Myeloid Leukemia
J. Biol. Chem.,
January 23, 2009;
284(4):
2549 - 2567.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. Kearney, D. Gonzalez De Castro, J. Yeung, J. Procter, S. W. Horsley, M. Eguchi-Ishimae, C. M. Bateman, K. Anderson, T. Chaplin, B. D. Young, et al.
Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia
Blood,
January 15, 2009;
113(3):
646 - 648.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Case, E. Matheson, L. Minto, R. Hassan, C. J. Harrison, N. Bown, S. Bailey, J. Vormoor, A. G. Hall, and J. A.E. Irving
Mutation of Genes Affecting the RAS Pathway Is Common in Childhood Acute Lymphoblastic Leukemia
Cancer Res.,
August 15, 2008;
68(16):
6803 - 6809.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. H. Wimmer-Kleikamp, E. Nievergall, K. Gegenbauer, S. Adikari, M. Mansour, T. Yeadon, A. W. Boyd, N. R. Patani, and M. Lackmann
Elevated protein tyrosine phosphatase activity provokes Eph/ephrin-facilitated adhesion of pre-B leukemia cells
Blood,
August 1, 2008;
112(3):
721 - 732.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Dos Santos, C. Demur, V. Bardet, N. Prade-Houdellier, B. Payrastre, and C. Recher
A critical role for Lyn in acute myeloid leukemia
Blood,
February 15, 2008;
111(4):
2269 - 2279.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
K. Matsuda, A. Shimada, N. Yoshida, A. Ogawa, A. Watanabe, S. Yajima, S. Iizuka, K. Koike, F. Yanai, K. Kawasaki, et al.
Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations
Blood,
June 15, 2007;
109(12):
5477 - 5480.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. Xue, D. Zhou, H. Yao, O. Gavrialov, M. J. McConnell, B. D. Gelb, and G. G. Haddad
Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2
Am J Physiol Regulatory Integrative Comp Physiol,
June 1, 2007;
292(6):
R2406 - R2416.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
T. Akasaka, T. Balasas, L. J. Russell, K.-j. Sugimoto, A. Majid, R. Walewska, E. L. Karran, D. G. Brown, K. Cain, L. Harder, et al.
Five members of the CEBP transcription factor family are targeted by recurrent IGH translocations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL)
Blood,
April 15, 2007;
109(8):
3451 - 3461.
[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]
|
|
|
|
|
|
|
B. D. Gelb and M. Tartaglia
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
Hum. Mol. Genet.,
October 15, 2006;
15(suppl_2):
R220 - R226.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. Wang, Z. Li, R. Ding, G. D. Frank, T. Senbonmatsu, E. J. Landon, T. Inagami, and Z. J. Zhao
Antagonism or Synergism: ROLE OF TYROSINE PHOSPHATASES SHP-1 AND SHP-2 IN GROWTH FACTOR SIGNALING
J. Biol. Chem.,
August 4, 2006;
281(31):
21878 - 21883.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. Charest, E. W. Wilker, M. E. McLaughlin, K. Lane, R. Gowda, S. Coven, K. McMahon, S. Kovach, Y. Feng, M. B. Yaffe, et al.
ROS Fusion Tyrosine Kinase Activates a SH2 Domain-Containing Phosphatase-2/Phosphatidylinositol 3-Kinase/Mammalian Target of Rapamycin Signaling Axis to Form Glioblastoma in Mice.
Cancer Res.,
August 1, 2006;
66(15):
7473 - 7481.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. I. Kontaridis, K. D. Swanson, F. S. David, D. Barford, and B. G. Neel
PTPN11 (Shp2) Mutations in LEOPARD Syndrome Have Dominant Negative, Not Activating, Effects
J. Biol. Chem.,
March 10, 2006;
281(10):
6785 - 6792.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
K. Oishi, K. Gaengel, S. Krishnamoorthy, K. Kamiya, I.-K. Kim, H. Ying, U. Weber, L. A. Perkins, M. Tartaglia, M. Mlodzik, et al.
Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
Hum. Mol. Genet.,
February 15, 2006;
15(4):
543 - 553.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
K. E. Yutzey, M. Colbert, and J. Robbins
Ras-Related Signaling Pathways in Valve Development: Ebb and Flow
Physiology,
December 1, 2005;
20(6):
390 - 397.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. Xu, Y. Yu, S. Zheng, X. Zhao, Q. Dong, Z. He, Y. Liang, Q. Lu, Y. Fang, X. Gan, et al.
Overexpression of Shp2 tyrosine phosphatase is implicated in leukemogenesis in adult human leukemia
Blood,
November 1, 2005;
106(9):
3142 - 3149.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. P. Kratz, C. M. Niemeyer, R. P. Castleberry, M. Cetin, E. Bergstrasser, P. D. Emanuel, H. Hasle, G. Kardos, C. Klein, S. Kojima, et al.
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease
Blood,
September 15, 2005;
106(6):
2183 - 2185.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Keilhack, F. S. David, M. McGregor, L. C. Cantley, and B. G. Neel
Diverse Biochemical Properties of Shp2 Mutants: IMPLICATIONS FOR DISEASE PHENOTYPES
J. Biol. Chem.,
September 2, 2005;
280(35):
30984 - 30993.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
S. Schubbert, K. Lieuw, S. L. Rowe, C. M. Lee, X. Li, M. L. Loh, D. W. Clapp, and K. M. Shannon
Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells
Blood,
July 1, 2005;
106(1):
311 - 317.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
C. Bille, J. F. Winther, A. Bautz, J. C. Murray, J. Olsen, and K. Christensen
Cancer Risk in Persons with Oral Cleft--A Population-based Study of 8,093 Cases
Am. J. Epidemiol.,
June 1, 2005;
161(11):
1047 - 1055.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. J. Chan, M. B. Leedy, V. Munugalavadla, C. S. Voorhorst, Y. Li, M. Yu, and R. Kapur
Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor
Blood,
May 1, 2005;
105(9):
3737 - 3742.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Bentires-Alj, J. G. Paez, F. S. David, H. Keilhack, B. Halmos, K. Naoki, J. M. Maris, A. Richardson, A. Bardelli, D. J. Sugarbaker, et al.
Activating Mutations of the Noonan Syndrome-Associated SHP2/PTPN11 Gene in Human Solid Tumors and Adult Acute Myelogenous Leukemia
Cancer Res.,
December 15, 2004;
64(24):
8816 - 8820.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
