Literature DB >> 20625837

Papillary thyroid cancer in a patient with MUTYH-associated polyposis (MAP).

Muhammad Ali Pervaiz1, Amanda Eppolito, Karen Schmidt.   

Abstract

We describe a patient with MUTYH-associated polyposis diagnosed with colon cancer at 33 years of age, as well as gastric polyps at a later age. She was also diagnosed with papillary thyroid cancer at age 35. MUTYH-associated polyposis is an autosomal recessively inherited disease which has clinical overlap with Familial adenomatous polyposis and its attenuated form, in that it is associated with risk of colon cancer at a young age. Extra-intestinal cancers have also been reported in patients with MUTYH-associated polyposis; however the tumor spectrum is still evolving. National Comprehensive Cancer Network guidelines recommend screening for colon, duodenal and gastric polyps in individuals with MUTYH-associated polyposis. Screening for extra-intestinal cancers i.e. thyroid cancer is presently not part of these recommendations. These will likely continue to evolve as the MUTYH-associated polyposis tumor spectrum is better understood as a result of future case reports and research.

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Year:  2010        PMID: 20625837     DOI: 10.1007/s10689-010-9366-1

Source DB:  PubMed          Journal:  Fam Cancer        ISSN: 1389-9600            Impact factor:   2.375


  15 in total

1.  The potential for increased clinical sensitivity in genetic testing for polyposis colorectal cancer through the analysis of MYH mutations in North American patients.

Authors:  K Eliason; B C Hendrickson; T Judkins; M Norton; B Leclair; E Lyon; B Ward; W Noll; T Scholl
Journal:  J Med Genet       Date:  2005-01       Impact factor: 6.318

2.  Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

Authors:  G Ponti; M Ponz de Leon; S Maffei; M Pedroni; L Losi; C Di Gregorio; V Gismondi; A Scarselli; P Benatti; B Roncari; S Seidenari; G Pellacani; C Varotti; E Prete; L Varesco; L Roncucci
Journal:  Clin Genet       Date:  2005-11       Impact factor: 4.438

3.  Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.

Authors:  Nada Al-Tassan; Nikolas H Chmiel; Julie Maynard; Nick Fleming; Alison L Livingston; Geraint T Williams; Angela K Hodges; D Rhodri Davies; Sheila S David; Julian R Sampson; Jeremy P Cheadle
Journal:  Nat Genet       Date:  2002-01-30       Impact factor: 38.330

4.  Association between biallelic and monoallelic germline MYH gene mutations and colorectal cancer risk.

Authors:  Marina E Croitoru; Sean P Cleary; Nando Di Nicola; Michael Manno; Teresa Selander; Melyssa Aronson; Mark Redston; Michelle Cotterchio; Julia Knight; Robert Gryfe; Steven Gallinger
Journal:  J Natl Cancer Inst       Date:  2004-11-03       Impact factor: 13.506

5.  A kindred with MYH-associated polyposis and pilomatricomas.

Authors:  Silvana Baglioni; German Melean; Francesca Gensini; Marco Santucci; Marco Scatizzi; Laura Papi; Maurizio Genuardi
Journal:  Am J Med Genet A       Date:  2005-04-15       Impact factor: 2.802

Review 6.  Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm.

Authors:  H R Harach; G T Williams; E D Williams
Journal:  Histopathology       Date:  1994-12       Impact factor: 5.087

7.  Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.

Authors:  Julian R Sampson; Sunil Dolwani; Sian Jones; Diana Eccles; Anthony Ellis; D Gareth Evans; Ian Frayling; Sheila Jordan; Eamonn R Maher; Tony Mak; Julie Maynard; Francesca Pigatto; Joan Shaw; Jeremy P Cheadle
Journal:  Lancet       Date:  2003-07-05       Impact factor: 79.321

8.  Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Authors:  Stefanie Vogt; Natalie Jones; Daria Christian; Christoph Engel; Maartje Nielsen; Astrid Kaufmann; Verena Steinke; Hans F Vasen; Peter Propping; Julian R Sampson; Frederik J Hes; Stefan Aretz
Journal:  Gastroenterology       Date:  2009-09-02       Impact factor: 22.682

9.  MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Heike Goergens; Kirsten Siberg; Matthias Vogel; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Peter Propping; Waltraut Friedl
Journal:  Int J Cancer       Date:  2006-08-15       Impact factor: 7.396

10.  Germline susceptibility to colorectal cancer due to base-excision repair gene defects.

Authors:  Susan M Farrington; Albert Tenesa; Rebecca Barnetson; Alice Wiltshire; James Prendergast; Mary Porteous; Harry Campbell; Malcolm G Dunlop
Journal:  Am J Hum Genet       Date:  2005-05-03       Impact factor: 11.025

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  4 in total

Review 1.  MUTYH-associated tumor syndrome: The other face of MAP.

Authors:  Luigi Magrin; Daniele Fanale; Chiara Brando; Lidia Rita Corsini; Ugo Randazzo; Marianna Di Piazza; Vittorio Gurrera; Erika Pedone; Tancredi Didier Bazan Russo; Salvatore Vieni; Gianni Pantuso; Antonio Russo; Viviana Bazan
Journal:  Oncogene       Date:  2022-04-14       Impact factor: 9.867

2.  MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Authors:  Tiziana Venesio; Antonella Balsamo; Vito G D'Agostino; Guglielmina N Ranzani
Journal:  Front Oncol       Date:  2012-08-02       Impact factor: 6.244

3.  Risk of extracolonic cancers for people with biallelic and monoallelic mutations in MUTYH.

Authors:  Aung Ko Win; Jeanette C Reece; James G Dowty; Daniel D Buchanan; Mark Clendenning; Christophe Rosty; Melissa C Southey; Joanne P Young; Sean P Cleary; Hyeja Kim; Michelle Cotterchio; Finlay A Macrae; Katherine M Tucker; John A Baron; Terrilea Burnett; Loïc Le Marchand; Graham Casey; Robert W Haile; Polly A Newcomb; Stephen N Thibodeau; John L Hopper; Steven Gallinger; Ingrid M Winship; Noralane M Lindor; Mark A Jenkins
Journal:  Int J Cancer       Date:  2016-06-02       Impact factor: 7.316

4.  Forty-eight-year-old female MUTYH carrier presenting with five concurrent primary cancers.

Authors:  Aaron Arroyave; Laurentia Nodit; Devin Clegg; Andrew Russ
Journal:  Cancer Rep (Hoboken)       Date:  2021-06-26
  4 in total

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