{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:28:43Z","timestamp":1782174523253,"version":"3.54.5"},"reference-count":16,"publisher":"Georg Thieme Verlag KG","issue":"03","license":[{"start":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T00:00:00Z","timestamp":1713657600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Indian J Radiol Imaging"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6, or PMS2. This syndrome is characterized by a broad spectrum of early-onset malignancies, including hematologic malignancies, colorectal malignancies, brain tumors, and other malignancies. It is common to have more than one malignancy in an individual diagnosed with CMMRD. In addition to malignancies, primary immunodeficiency in the form of low or absent immunoglobulin levels can also be seen in CMMRD. Congenital abnormalities such as agenesis of the corpus callosum (ACC), cavernous hemangioma, and other non-neoplastic diseases can also be linked to it. In this case report, we discussed the case of a girl born out of consanguineous marriage initially identified as having T-cell acute lymphoblastic lymphoma and later found to have selective immunoglobulin A (IgA) deficiency. Her younger sibling with a pontine cavernous hemangioma was also diagnosed with lymphoma. The girl exhibited brain lesions on magnetic resonance imaging (MRI), which were initially diagnosed as posterior reversible encephalopathy syndrome (PRES) related changes; however, one of the lesions persisted and remained stable over a period of 2 years and more in favor of diffuse glioma. The younger sibling also showed a solitary lesion in the brain. Based on the clinical and radiological findings, a diagnosis of CMMRD was suspected. Next-generation sequence (NGS) analysis of her blood sample was done. The results showed a homozygous mutation in the MSH6 gene was diagnostic of CMMRD.<\/jats:p>","DOI":"10.1055\/s-0044-1779586","type":"journal-article","created":{"date-parts":[[2024,4,21]],"date-time":"2024-04-21T22:30:20Z","timestamp":1713738620000},"page":"562-565","source":"Crossref","is-referenced-by-count":3,"title":["Demystifying the Mystery of Genes: A Case Report on Constitutional Mismatch Repair Deficiency"],"prefix":"10.1055","volume":"34","author":[{"given":"Jose","family":"Siju","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1549-3680","authenticated-orcid":false,"given":"Arpita","family":"Sahu","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kajari","family":"Bhattacharya","sequence":"additional","affiliation":[{"name":"Department of Radiodiagnosis, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maya","family":"Prasad","sequence":"additional","affiliation":[{"name":"Department of Paediatric Medical Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rajiv","family":"Sarin","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tejpal","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Radiation Oncology, Tata Memorial Hospital, Mumbai, Maharashtra, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2024,4,21]]},"reference":[{"issue":"05","key":"ref1","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1038\/nrm1907","article-title":"The multifaceted mismatch-repair system","volume":"7","author":"J Jiricny","year":"2006","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"11","key":"ref2","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1084\/jem.20080789","article-title":"Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination","volume":"205","author":"S P\u00e9ron","year":"2008","journal-title":"J Exp Med"},{"issue":"08","key":"ref3","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/nri858","article-title":"AID and mismatch repair in antibody diversification","volume":"2","author":"A Martin","year":"2002","journal-title":"Nat Rev 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findings in children with constitutional mismatch repair deficiency syndrome","volume":"41","author":"A Kerpel","year":"2020","journal-title":"Am J Neuroradiol"},{"issue":"03","key":"ref11","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1111\/j.1399-0004.2011.01635.x","article-title":"Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations","volume":"80","author":"P C Johannesma","year":"2011","journal-title":"Clin Genet"},{"issue":"10","key":"ref12","doi-asserted-by":"crossref","first-page":"1943","DOI":"10.3174\/ajnr.A5766","article-title":"Multiple brain developmental venous anomalies as a marker for constitutional mismatch repair deficiency syndrome","volume":"39","author":"S I Shiran","year":"2018","journal-title":"Am J Neuroradiol"},{"issue":"09","key":"ref13","doi-asserted-by":"crossref","first-page":"1782","DOI":"10.3174\/ajnr.A4352","article-title":"Increased prevalence of developmental venous anomalies in children with intracranial neoplasms","volume":"36","author":"B V Jones","year":"2015","journal-title":"Am J Neuroradiol"},{"issue":"03","key":"ref14","doi-asserted-by":"crossref","first-page":"319","DOI":"10.3340\/jkns.2018.0031","article-title":"Pediatric high grade gliomas in the context of cancer predisposition syndromes","volume":"61","author":"O Michaeli","year":"2018","journal-title":"J Korean Neurosurg Soc"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1186\/s43055-019-0078-8","article-title":"The combined role of MR spectroscopy and perfusion imaging in preoperative differentiation between high- and low-grade gliomas","volume":"50","author":"A MS Hasan","year":"2019","journal-title":"Egypt J Radiol Nucl Med"},{"issue":"05","key":"ref16","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1136\/jmedgenet-2013-102238","article-title":"Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium \u201cCare for 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