Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature
We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes.
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Temel Bulgular & Veri:Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature.
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Sonuç & Katkı:We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.
🔬Tür:Literatür & Derleme Çalışması
📍Kapsam:2020 Verileri
⚙️Değişkenler:Alan Parametreleri
Özet
Background. Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare childhood cancer predisposition syndrome resulting from biallelic germline mutations of mismatch repair (MMR) genes. CMMRD syndrome is characterised by early onset malignancies in children. Case. Here we present affected children of consanguinous parents diagnosed with CMMRD syndrome due to germline bi-allelic MSH 6 gene mutations with café au lait spots and multiple family cancers from Turkey and reported cases with CMMRD syndrome associated MSH 6 mutation in English literature. Hence, we reviewed English literature from 1990 to 2020 using Pub-Med database. Keywords used to search included constitutional mismatch repair deficiency syndrome, childhood cancer and MSH 6 gene mutation. Conclusions. We emphasize that the inclusion of CMMRD syndrome in the differential diagnosis of a patient who presents with cafe´ au lait spots and/or hypopigmented skin lesions and cancer especially when consanguinity and/or a history of cancer coexist in children.
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Bu Makaleye Atıf Yap
ÖZYÖRÜK, D., ERDEM, A. Y., CABI, E. Ü., TAÇYILDIZ, N., PINARLI, F. A., OĞUZ, A. S., HANALIOĞLU, Ş., DEMIR, A. M. (2021). Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature. Turkish Journal of Pediatrics, Cilt: 63 - Sayı: 5, 893–902. https://ajindex.com/articles/403050
Lavoine N, Colas C, Muleris M, et al. Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort. J Med Genet 2015; 52: 770-778
Wimmer K, Rosenbaum T, Messiaen L. Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1. Clin Genet 2017; 91: 507-519
Westdorp H, Kolders S, Hoogerbrugge N, de Vries IJM, Jongmans MCJ, Schreibelt G. Immunotherapy holds the key to cancer treatment and prevention in constitutional mismatch repair deficiency (CMMRD) syndrome. Cancer Lett 2017; 403: 159-164
Wimmer K, Etzler J. Constitutional mismatch repairdeficiency syndrome: have we so far seen only the tip of an iceberg? Hum Genet 2008; 124: 105-122
Alexander TB, McGee RB, Kaye EC, et al. Metachronous T-lymphoblastic lymphoma and Burkitt lymphoma in a child with constitutional mismatch repair deficiency syndrome. Pediatr Blood Cancer 2016; 63: 1454-1456 6. Bouffet E, Larouche V, Campbell BB, et al. Immune checkpoint inhibition for hypermutant glioblastoma multiforme resulting from germline biallelic mismatch repair deficiency. J Clin Oncol 2016; 34: 2206-2211
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: 40
Ramachandra C, Challa VR, Shetty R. Constitutional mismatch repair deficiency syndrome: do we know it? Indian J Hum Genet 2014; 20: 192-194
Wimmer K, Kratz CP, Vasen HF, et al; EU-Consortium Care for CMMRD (C4CMMRD) Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium ‘care for CMMRD’ (C4CMMRD). J Med Genet 2014; 51: 355-365
Durno CA, Sherman PM, Aronson M, et al; International BMMRD Consortium. Phenotypic and genotypic characterisation of biallelic mismatch repair deficiency (BMMR-D) syndrome. Eur J Cancer 2015; 51: 977-983
Vasen HF, Ghorbanoghli Z, Bourdeaut F, et al; EU-Consortium Care for CMMR-D (C4CMMR-D). Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D). J Med Genet 2014; 51: 283-293
Bakry D, Aronson M, Durno C, et al. Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. Eur J Cancer 2014; 50: 987-996