Literature DB >> 23729388

Constitutional mismatch repair deficiency presenting in childhood as three simultaneous malignancies.

Andrew W Walter1, Sara Ennis, Hunter Best, Cecily P Vaughn, Jeffrey J Swensen, Amanda Openshaw, Karen W Gripp.   

Abstract

A 13-year-old child presented with three simultaneous malignancies: glioblastoma multiforme, Burkitt lymphoma, and colonic adenocarcinoma. She was treated for her diseases without success and died 8 months after presentation. Genetic analysis revealed a homozygous mutation in the PMS2 gene, consistent with constitutional mismatch repair deficiency. Her siblings and parents were screened: three of four siblings and both parents were heterozygous for this mutation; the fourth sibling did not have the mutation.
Copyright © 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  Burkitt lymphoma; Lynch syndrome; adenocarcinoma; constitutional mismatch repair; glioblastoma multiforme

Mesh：

Substances：

Year:  2013        PMID： 23729388     DOI： 10.1002/pbc.24613

Source DB:  PubMed          Journal:  Pediatr Blood Cancer        ISSN： 1545-5009            Impact factor:   3.167


  6 in total

1.  Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium.

Authors:  Melyssa Aronson; Steven Gallinger; Zane Cohen; Shlomi Cohen; Rina Dvir; Ronit Elhasid; Hagit N Baris; Revital Kariv; Harriet Druker; Helen Chan; Simon C Ling; Paul Kortan; Spring Holter; Kara Semotiuk; David Malkin; Roula Farah; Alain Sayad; Brandie Heald; Matthew F Kalady; Lynette S Penney; Andrea L Rideout; Mohsin Rashid; Linda Hasadsri; Pavel Pichurin; Douglas Riegert-Johnson; Brittany Campbell; Doua Bakry; Hala Al-Rimawi; Qasim Kholaif Alharbi; Musa Alharbi; Ashraf Shamvil; Uri Tabori; Carol Durno
Journal:  Am J Gastroenterol       Date:  2016-01-05       Impact factor: 10.864

Review 2.  Syndrome-Associated Tumors by Organ System.

Authors:  Raul S Gonzalez; Nicole D Riddle
Journal:  J Pediatr Genet       Date:  2016-03-09

3.  Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.

Authors:  Thomas B Alexander; Rose B McGee; Erica C Kaye; Mary Beth McCarville; John K Choi; Cary P Cavender; Kim E Nichols; John T Sandlund
Journal:  Pediatr Blood Cancer       Date:  2016-04-01       Impact factor: 3.167

Review 4.  PMS2 monoallelic mutation carriers: the known unknown.

Authors:  McKinsey L Goodenberger; Brittany C Thomas; Douglas Riegert-Johnson; C Richard Boland; Sharon E Plon; Mark Clendenning; Aung Ko Win; Leigha Senter; Steven M Lipkin; Zsofia K Stadler; Finlay A Macrae; Henry T Lynch; Jeffrey N Weitzel; Albert de la Chapelle; Sapna Syngal; Patrick Lynch; Susan Parry; Mark A Jenkins; Steven Gallinger; Spring Holter; Melyssa Aronson; Polly A Newcomb; Terrilea Burnett; Loïc Le Marchand; Pavel Pichurin; Heather Hampel; Jonathan P Terdiman; Karen H Lu; Stephen Thibodeau; Noralane M Lindor
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822

Review 5.  The Challenge of Diagnosing Constitutional Mismatch Repair Deficiency Syndrome in Brain Malignancies from Young Individuals.

Authors:  Cristina Carrato; Carolina Sanz; Ana María Muñoz-Mármol; Ignacio Blanco; Marta Pineda; Jesús Del Valle; Estela Dámaso; Manel Esteller; Eva Musulen
Journal:  Int J Mol Sci       Date:  2021-04-28       Impact factor: 5.923

6.  New insights into the genetics of glioblastoma multiforme by familial exome sequencing.

Authors:  Christina Backes; Christian Harz; Ulrike Fischer; Jana Schmitt; Nicole Ludwig; Britt-Sabina Petersen; Sabine C Mueller; Yoo-Jin Kim; Nadine M Wolf; Hugo A Katus; Benjamin Meder; Rhoikos Furtwängler; Andre Franke; Rainer Bohle; Wolfram Henn; Norbert Graf; Andreas Keller; Eckart Meese
Journal:  Oncotarget       Date:  2015-03-20
  6 in total

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