Literature DB >> 10449656

Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review.

P Franceschini1, D Licata, G Di Cara, A Guala, M Bianchi, G Ingrosso, D Franceschini.   

Abstract

We report on a 12-year-old boy with Costello syndrome born to consanguineous (first cousins once removed) parents, supporting the hypothesis of recessive transmission of this syndrome. At age 11 years, the patient developed a bladder carcinoma, a rare pediatric tumor not previously described in Costello syndrome. This suggests that an increased risk of malignancy may be part of this condition. Copyright 1999 Wiley-Liss, Inc.

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Mesh：

Year:  1999        PMID： 10449656

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  8 in total

1.  Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

Authors:  B Kerr; M-A Delrue; S Sigaudy; R Perveen; M Marche; I Burgelin; M Stef; B Tang; O B Eden; J O'Sullivan; A De Sandre-Giovannoli; W Reardon; C Brewer; C Bennett; O Quarell; E M'Cann; D Donnai; F Stewart; R Hennekam; H Cavé; A Verloes; N Philip; D Lacombe; N Levy; B Arveiler; G Black
Journal:  J Med Genet       Date:  2006-01-27       Impact factor: 6.318

2.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

3.  Hyperactivation of Ha-ras oncogene, but not Ink4a/Arf deficiency, triggers bladder tumorigenesis.

Authors:  Lan Mo; Xiaoyong Zheng; Hong-Ying Huang; Ellen Shapiro; Herbert Lepor; Carlos Cordon-Cardo; Tung-Tien Sun; Xue-Ru Wu
Journal:  J Clin Invest       Date:  2007-01-25       Impact factor: 14.808

4.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

5.  Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein.

Authors:  A Hinek; A C Smith; E M Cutiongco; J W Callahan; K W Gripp; R Weksberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

6.  Contextualizing the Genes Altered in Bladder Neoplasms in Pediatric andTeen Patients Allows Identifying Two Main Classes of Biological ProcessesInvolved and New Potential Therapeutic Targets.

Authors:  A Porrello; R B Piergentili
Journal:  Curr Genomics       Date:  2016-02       Impact factor: 2.236

7.  Maintenance of the bladder cancer precursor urothelial hyperplasia requires FOXA1 and persistent expression of oncogenic HRAS.

Authors:  Christopher H Yee; Zongyu Zheng; Lauren Shuman; Hironobu Yamashita; Joshua I Warrick; Xue-Ru Wu; Jay D Raman; David J DeGraff
Journal:  Sci Rep       Date:  2019-01-22       Impact factor: 4.379

Review 8.  Biology of urothelial tumorigenesis: insights from genetically engineered mice.

Authors:  Xue-Ru Wu
Journal:  Cancer Metastasis Rev       Date:  2009-12       Impact factor: 9.264
  8 in total

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