10-YEAR-OLD PAKISTANI BOY WITH MULTIPLE MALIGNANCIES: LOSS OF PMS2-CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY
DOI:
https://doi.org/10.55519/JAMC-03-S1-9258Keywords:
acute leukemia, Mismatch Repair cancer syndrome, PakistanAbstract
Constitutional Mismatch repair deficiency (CMMRD) is a cancer predisposition syndrome. Four main common malignancies seen are, hematological, brain tumours, colorectal cancers, and intestinal polyps. We are reporting a 10-year-old boy with CMMRD; diagnosed with hematological malignancies, followed by low grade glioma in thalamus. There was loss of PMS2, whereas immunostaining was retained for MLH1, MSH2 and MSH6. Early diagnosis of CMMRD is crucial especially in countries like Pakistan, where consanguineous marriages are common. Increasing awareness among the physicians will help in early diagnosis, surveillance and in providing appropriate genetic counselling to the family.
References
Wimmer K, Kratz CP. Constitutional mismatch repair-deficiency syndrome. Haematologica 2010;95(5):699.
Hsieh P, Yamane K. DNA mismatch repair: molecular mechanism, cancer, and ageing. Mech Ageing Dev 2008;129(7-8):391-407.
Bruwer Z, Algar U, Vorster A, Fieggen K, Davidson A, Goldberg P, et al. Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome. J Genet Counsel 2014;23(2):147-55.
Ramchander NC, Ryan NA, Crosbie EJ, Evans DG. Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD). BMC Med Genet 2017;18(1):1-8.
Wimmer K, Kratz CP, Vasen HF, Caron O, Colas C, Entz-Werle N, et al. Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium '˜care for CMMRD'(C4CMMRD). J Med Genet 2014;51(6):355-65.
Abedalthagafi M. Constitutional mismatch repair-deficiency: current problems and emerging therapeutic strategies. Oncotarget 2018;23;9(83):35458-69.
Tabori U, Hansford JR, Achatz MI, Kratz CP, Plon SE, Frebourg T, et al. Clinical management and tumor surveillance recommendations of inherited mismatch repair deficiency in childhood. Clin Cancer Res 2017;1;23(11):e32-7.
Downloads
Published
How to Cite
Issue
Section
License
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.
