Literature DB >> 27617153

Rhabdoid Tumor Predisposition Syndrome and Pleuropulmonary Blastoma Syndrome.

Valerie A Fitzhugh1.   

Abstract

In recent years, hereditary cancer syndromes have developed greater interest in the scientific community. Two such syndromes, rhabdoid tumor syndrome and pleuropulmonary blastoma (DICER1) syndrome, have appeared increasingly in the literature. This review will discuss these two syndromes in terms of clinical parameters, associated tumors, and genetic associations.

Entities:  

Keywords:  DICER1; SMARCB1; hereditary cancer syndrome; pleuropulmonary predisposition syndrome; rhabdoid tumor predisposition syndrome

Year:  2016        PMID： 27617153      PMCID： PMC4918694          DOI： 10.1055/s-0036-1579756

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  18 in total

1.  Molecular cytogenetic analysis of a pleuropulmonary blastoma.

Authors:  Bo Hong; Zhong Chen; Cheryl M Coffin; Richard Lemons; Bonnie Issa; Arthur Brothman; Holly Zhou
Journal:  Cancer Genet Cytogenet       Date:  2003-04-01

2.  An association of pleuropulmonary blastoma and cystic nephroma: possible genetic association.

Authors:  Dorotheé Bouron-Dal Soglio; Isabelle Harvey; Salam Yazbeck; Françoise Rypens; Luc L Oligny; Jean-Christophe Fournet
Journal:  Pediatr Dev Pathol       Date:  2006-04-04

Review 3.  Mechanisms by which SMARCB1 loss drives rhabdoid tumor growth.

Authors:  Kimberly H Kim; Charles W M Roberts
Journal:  Cancer Genet       Date:  2014-04-13

4.  Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers.

Authors:  N Sévenet; E Sheridan; D Amram; P Schneider; R Handgretinger; O Delattre
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

5.  DICER1-pleuropulmonary blastoma familial tumor predisposition syndrome: a unique constellation of neoplastic conditions.

Authors:  Kris Ann Schultz; Jiandong Yang; Leslie Doros; Gretchen M Williams; Anne Harris; Douglas R Stewart; Yoav Messinger; Amanda Field; Louis P Dehner; D Ashley Hill
Journal:  Pathol Case Rev       Date:  2014-03

6.  Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors.

Authors:  Katherine W Eaton; Laura S Tooke; Luanne M Wainwright; Alexander R Judkins; Jaclyn A Biegel
Journal:  Pediatr Blood Cancer       Date:  2011-01       Impact factor: 3.167

7.  Ovarian sex cord-stromal tumors, pleuropulmonary blastoma and DICER1 mutations: a report from the International Pleuropulmonary Blastoma Registry.

Authors:  Kris Ann P Schultz; M Cristina Pacheco; Jiandong Yang; Gretchen M Williams; Yoav Messinger; D Ashley Hill; Louis P Dehner; John R Priest
Journal:  Gynecol Oncol       Date:  2011-04-17       Impact factor: 5.482

8.  Rhabdoid tumor predisposition syndrome.

Authors:  Simone T Sredni; Tadanori Tomita
Journal:  Pediatr Dev Pathol       Date:  2014-12-10

9.  Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma.

Authors:  Ronald R de Krijger; Sandra M H Claessen; Frieda van der Ham; Ad J M van Unnik; Christina A Hulsbergen-van de Kaa; Leen van Leuven; Max van Noesel; Ernst J M Speel
Journal:  Mod Pathol       Date:  2007-09-14       Impact factor: 7.842

10.  DICER1 mutations in familial pleuropulmonary blastoma.

Authors:  D Ashley Hill; Jennifer Ivanovich; John R Priest; Christina A Gurnett; Louis P Dehner; David Desruisseau; Jason A Jarzembowski; Kathryn A Wikenheiser-Brokamp; Brian K Suarez; Alison J Whelan; Gretchen Williams; Dawn Bracamontes; Yoav Messinger; Paul J Goodfellow
Journal:  Science       Date:  2009-06-25       Impact factor: 47.728
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