Literature DB >> 18758896

Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.

Fu-Sung Lo1, Tseng-Tong Kuo2, Chao-Jan Wang3, Min-Tzu Kuo1, Ming-Chung Kuo4.   

Abstract

We describe the previously unreported condition of Hodgkin's lymphoma in a patient with Noonan syndrome caused by germ-line mutations (1507G > C, Gly503Arg) in exon 13 of the PTPN11 gene. PTPN11, encoding SHP-2, is the first identified gene for Noonan syndrome and also the first identified proto-oncogene that encodes a tyrosine phosphatase. This somatic mutation has ever been reported in juvenile myelomonocytic leukemia (JMML). Furthermore, the functional analysis of this mutant SHP-2 has shown it to have enhanced phosphatase activity. Mutational analysis of PTPN11 gene in cancer cells and understanding how SHP-2 contributes to oncogenesis will provide new insight into the pathogenesis of Hodgkin's lymphoma.

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Year:  2008        PMID： 18758896     DOI： 10.1007/s12185-008-0157-5

Source DB:  PubMed          Journal:  Int J Hematol        ISSN： 0925-5710            Impact factor:   2.490


  20 in total

1.  Patterns of cognitive functioning in school-aged children with Noonan syndrome associated with variability in phenotypic expression.

Authors:  I van der Burgt; G Thoonen; N Roosenboom; C Assman-Hulsmans; F Gabreels; B Otten; H G Brunner
Journal:  J Pediatr       Date:  1999-12       Impact factor: 4.406

2.  PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

Authors:  Kenjiro Kosaki; Taichi Suzuki; Koji Muroya; Tomonobu Hasegawa; Seiji Sato; Nobutake Matsuo; Rika Kosaki; Toshiro Nagai; Yukihiro Hasegawa; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2002-08       Impact factor: 5.958

Review 3.  The 'Shp'ing news: SH2 domain-containing tyrosine phosphatases in cell signaling.

Authors:  Benjamin G Neel; Haihua Gu; Lily Pao
Journal:  Trends Biochem Sci       Date:  2003-06       Impact factor: 13.807

4.  PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.

Authors:  Rebecca J Chan; Gen-Sheng Feng
Journal:  Blood       Date:  2006-10-19       Impact factor: 22.113

5.  PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

Authors:  Marco Tartaglia; Kamini Kalidas; Adam Shaw; Xiaoling Song; Dan L Musat; Ineke van der Burgt; Han G Brunner; Débora R Bertola; Andrew Crosby; Andra Ion; Raju S Kucherlapati; Steve Jeffery; Michael A Patton; Bruce D Gelb
Journal:  Am J Hum Genet       Date:  2002-05-01       Impact factor: 11.025

6.  Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

Authors:  Mohamed Bentires-Alj; J Guillermo Paez; Frank S David; Heike Keilhack; Balazs Halmos; Katsuhiko Naoki; John M Maris; Andrea Richardson; Alberto Bardelli; David J Sugarbaker; William G Richards; Jinyan Du; Luc Girard; John D Minna; Mignon L Loh; David E Fisher; Victor E Velculescu; Bert Vogelstein; Matthew Meyerson; William R Sellers; Benjamin G Neel
Journal:  Cancer Res       Date:  2004-12-15       Impact factor: 12.701

7.  Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

Authors:  Marco Tartaglia; Charlotte M Niemeyer; Alessandra Fragale; Xiaoling Song; Jochen Buechner; Andreas Jung; Karel Hählen; Henrik Hasle; Jonathan D Licht; Bruce D Gelb
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

8.  Germline KRAS mutations cause Noonan syndrome.

Authors:  Suzanne Schubbert; Martin Zenker; Sara L Rowe; Silke Böll; Cornelia Klein; Gideon Bollag; Ineke van der Burgt; Luciana Musante; Vera Kalscheuer; Lars-Erik Wehner; Hoa Nguyen; Brian West; Kam Y J Zhang; Erik Sistermans; Anita Rauch; Charlotte M Niemeyer; Kevin Shannon; Christian P Kratz
Journal:  Nat Genet       Date:  2006-02-12       Impact factor: 38.330

Review 9.  Contribution of the Epstein Barr virus to the molecular pathogenesis of Hodgkin lymphoma.

Authors:  G Kapatai; P Murray
Journal:  J Clin Pathol       Date:  2007-12       Impact factor: 3.411

Review 10.  A revised European-American classification of lymphoid neoplasms: a proposal from the International Lymphoma Study Group.

Authors:  N L Harris; E S Jaffe; H Stein; P M Banks; J K Chan; M L Cleary; G Delsol; C De Wolf-Peeters; B Falini; K C Gatter
Journal:  Blood       Date:  1994-09-01       Impact factor: 22.113
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  3 in total

1.  Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Authors:  Marjolijn C J Jongmans; Ineke van der Burgt; Peter M Hoogerbrugge; Kees Noordam; Helger G Yntema; Willy M Nillesen; Roland P Kuiper; Marjolijn J L Ligtenberg; Ad Geurts van Kessel; J Han J M van Krieken; Lambertus A L M Kiemeney; Nicoline Hoogerbrugge
Journal:  Eur J Hum Genet       Date:  2011-03-16       Impact factor: 4.246

2.  Noonan syndrome - a new survey.

Authors:  Alireza Tafazoli; Peyman Eshraghi; Zahra Kamel Koleti; Mohammadreza Abbaszadegan
Journal:  Arch Med Sci       Date:  2016-12-19       Impact factor: 3.318

Review 3.  A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy.

Authors:  Na Wang; Wen Shi; Yang Jiao
Journal:  BMC Gastroenterol       Date:  2020-02-13       Impact factor: 3.067
  3 in total

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