Literature DB >> 33489510

Non-Hodgkin's Lymphoma and Colorectal Carcinoma: Metachronous Occurrence in a Patient With Underlying DNA Mismatch Repair Syndrome.

Zunaira Shaukat1, Rabia Wali1.   

Abstract

Constitutional mismatch repair deficiency (CMMRD) is an autosomal recessive disorder caused by biallelic mutations in DNA mismatch repair genes 1. These patients have clinical stigmata of neurofibromatosis 1 (NF-1) with childhood onset of hematological malignancies, high grade gliomas, and colorectal-cancers 2. We present a case of non-Hodgkin's lymphoma (NHL) who later on developed adenocarcinoma colon at an age of 11 years with significant family history of glioblastoma in elder brother and colonic cancer in mother. This is the first case of CMMRD in Pakistan who developed colonic neoplasm at the age of 11 years. Nearly 150 patients of CMMRD have been reported worldwide.
Copyright © 2020, Shaukat et al.

Entities:  

Keywords:  colorectal neoplasms; constitutional mismatch repair deficiency; dna mismatch repair; lymphoma; lynch syndrome; non-hodgkin's

Year:  2020        PMID: 33489510      PMCID: PMC7805505          DOI: 10.7759/cureus.12092

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  16 in total

Review 1.  The multifaceted mismatch-repair system.

Authors:  Josef Jiricny
Journal:  Nat Rev Mol Cell Biol       Date:  2006-05       Impact factor: 94.444

2.  Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.

Authors:  Carol A Durno; Melyssa Aronson; Uri Tabori; David Malkin; Steven Gallinger; Helen S L Chan
Journal:  Pediatr Blood Cancer       Date:  2011-12-16       Impact factor: 3.167

Review 3.  Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.

Authors:  Uri Tabori; Jordan R Hansford; Maria Isabel Achatz; Christian P Kratz; Sharon E Plon; Thierry Frebourg; Laurence Brugières
Journal:  Clin Cancer Res       Date:  2017-06-01       Impact factor: 12.531

4.  Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome.

Authors:  John Burn; D Timothy Bishop; Jukka-Pekka Mecklin; Finlay Macrae; Gabriela Möslein; Sylviane Olschwang; Marie-Luise Bisgaard; Raj Ramesar; Diana Eccles; Eamonn R Maher; Lucio Bertario; Heikki J Jarvinen; Annika Lindblom; D Gareth Evans; Jan Lubinski; Patrick J Morrison; Judy W C Ho; Hans F A Vasen; Lucy Side; Huw J W Thomas; Rodney J Scott; Malcolm Dunlop; Gail Barker; Faye Elliott; Jeremy R Jass; Ricardo Fodde; Henry T Lynch; John C Mathers
Journal:  N Engl J Med       Date:  2008-12-11       Impact factor: 91.245

5.  Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Authors:  H F A Vasen; Z Ghorbanoghli; F Bourdeaut; O Cabaret; O Caron; A Duval; N Entz-Werle; Y Goldberg; D Ilencikova; C P Kratz; N Lavoine; J Loeffen; F H Menko; M Muleris; G Sebille; C Colas; B Burkhardt; L Brugieres; K Wimmer
Journal:  J Med Genet       Date:  2014-02-20       Impact factor: 6.318

6.  Biochemical and imaging surveillance in germline TP53 mutation carriers with Li-Fraumeni syndrome: 11 year follow-up of a prospective observational study.

Authors:  Anita Villani; Ari Shore; Jonathan D Wasserman; Derek Stephens; Raymond H Kim; Harriet Druker; Bailey Gallinger; Anne Naumer; Wendy Kohlmann; Ana Novokmet; Uri Tabori; Marta Tijerin; Mary-Louise C Greer; Jonathan L Finlay; Joshua D Schiffman; David Malkin
Journal:  Lancet Oncol       Date:  2016-08-05       Impact factor: 41.316

Review 7.  Thiopurines in current medical practice: molecular mechanisms and contributions to therapy-related cancer.

Authors:  Peter Karran; Natalie Attard
Journal:  Nat Rev Cancer       Date:  2008-01       Impact factor: 60.716

8.  Diagnosis of a case of homozygous constitutional MMR-deficiency by the use of a gene-panel in a non-consanguineous family: A case report.

Authors:  Ming Xu; Hongsheng He; Zengqiang Yang; Peng Luo; Qing Wang; Feng Gao
Journal:  Biomed Rep       Date:  2019-12-20

9.  Immune Checkpoint Inhibition for Hypermutant Glioblastoma Multiforme Resulting From Germline Biallelic Mismatch Repair Deficiency.

Authors:  Eric Bouffet; Valérie Larouche; Brittany B Campbell; Daniele Merico; Richard de Borja; Melyssa Aronson; Carol Durno; Joerg Krueger; Vanja Cabric; Vijay Ramaswamy; Nataliya Zhukova; Gary Mason; Roula Farah; Samina Afzal; Michal Yalon; Gideon Rechavi; Vanan Magimairajan; Michael F Walsh; Shlomi Constantini; Rina Dvir; Ronit Elhasid; Alyssa Reddy; Michael Osborn; Michael Sullivan; Jordan Hansford; Andrew Dodgshun; Nancy Klauber-Demore; Lindsay Peterson; Sunil Patel; Scott Lindhorst; Jeffrey Atkinson; Zane Cohen; Rachel Laframboise; Peter Dirks; Michael Taylor; David Malkin; Steffen Albrecht; Roy W R Dudley; Nada Jabado; Cynthia E Hawkins; Adam Shlien; Uri Tabori
Journal:  J Clin Oncol       Date:  2016-03-21       Impact factor: 44.544

10.  Non-Hodgkin lymphoma and pre-existing conditions: spectrum, clinical characteristics and outcome in 213 children and adolescents.

Authors:  Andishe Attarbaschi; Elisa Carraro; Oussama Abla; Shlomit Barzilai-Birenboim; Simon Bomken; Laurence Brugieres; Eva Bubanska; Birgit Burkhardt; Alan K S Chiang; Monika Csoka; Alina Fedorova; Janez Jazbec; Edita Kabickova; Zdenka Krenova; Jelena Lazic; Jan Loeffen; Georg Mann; Felix Niggli; Natalia Miakova; Tomoo Osumi; Leila Ronceray; Anne Uyttebroeck; Denise Williams; Wilhelm Woessmann; Grazyna Wrobel; Marta Pillon
Journal:  Haematologica       Date:  2016-08-11       Impact factor: 9.941

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  1 in total

1.  A Constitutional Mismatch Repair Deficiency Syndrome Presented With an Advanced Rectal Cancer in a Juvenile Female: A Case Report and Literature Review.

Authors:  Mohammed N AlAli; Abdulrahman H Zikry; Sulaiman A AlShammari; Mohammed Ayesh Zayed; Mohammed Alswayyed; Omar A AlObeed
Journal:  Cureus       Date:  2022-04-30
  1 in total

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