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Autor
Aulicka, Stefania 1 Bajciova, Viera 1 Bianchi, Vanessa 1 Das, Anirban 1 Dimayacyac, Jose R 1 Drabova, Klara 1 Jarosova, Marie 1 Jezova, Marta 1 Jugas, Robin 1 Kyr, Michal 1 Mejstrikova, Sona 1 Merta, Tomas 1 Mudry, Peter 1 Negm, Logine 1 Noskova, Kristyna 1 Pal, Karol 1 Palova, Hana 1 Pavelka, Zdenek 1 Pokorna, Petra 1 Slaby, Ondrej 1
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Pracoviště
Central European Institute of Technol... 1 Clinical Pharmacy Section of Hospital... 1 Department of Biochemistry Faculty of... 1 Department of Biology Faculty of Medi... 1 Department of Internal Medicine Hemat... 1 Department of Paediatrics University ... 1 Department of Pathology University Ho... 1 Department of Pediatric Neurology Uni... 1 Department of Pediatric Oncology Univ... 1 Department of Pharmacology Faculty of... 1 Division of Haematology Oncology The ... 1 Institute of Medical Genetics and Gen... 1 The Arthur and Sonia Labatt Brain Tum... 1
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Autor
Aulicka, Stefania 1 Bajciova, Viera 1 Bianchi, Vanessa 1 Das, Anirban 1 Dimayacyac, Jose R 1 Drabova, Klara 1 Jarosova, Marie 1 Jezova, Marta 1 Jugas, Robin 1 Kyr, Michal 1 Mejstrikova, Sona 1 Merta, Tomas 1 Mudry, Peter 1 Negm, Logine 1 Noskova, Kristyna 1 Pal, Karol 1 Palova, Hana 1 Pavelka, Zdenek 1 Pokorna, Petra 1 Slaby, Ondrej 1
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Pracoviště
Central European Institute of Technol... 1 Clinical Pharmacy Section of Hospital... 1 Department of Biochemistry Faculty of... 1 Department of Biology Faculty of Medi... 1 Department of Internal Medicine Hemat... 1 Department of Paediatrics University ... 1 Department of Pathology University Ho... 1 Department of Pediatric Neurology Uni... 1 Department of Pediatric Oncology Univ... 1 Department of Pharmacology Faculty of... 1 Division of Haematology Oncology The ... 1 Institute of Medical Genetics and Gen... 1 The Arthur and Sonia Labatt Brain Tum... 1
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NLK
Directory of Open Access Journals
od 2017
Nature Open Access
od 2017-12-01
PubMed Central
od 2017
Europe PubMed Central
od 2017
ProQuest Central
od 2017-01-01
Nursing & Allied Health Database (ProQuest)
od 2017-01-01
Health & Medicine (ProQuest)
od 2017-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2017
PubMed
38773265
DOI
10.1038/s41698-024-00597-8
Knihovny.cz E-zdroje
Constitutional mismatch repair deficiency (CMMRD) is a rare syndrome characterized by an increased incidence of cancer. It is caused by biallelic germline mutations in one of the four mismatch repair genes (MMR) genes: MLH1, MSH2, MSH6, or PMS2. Accurate diagnosis accompanied by a proper molecular genetic examination plays a crucial role in cancer management and also has implications for other family members. In this report, we share the impact of the diagnosis and challenges during the clinical management of two brothers with CMMRD from a non-consanguineous family harbouring compound heterozygous variants in the PMS2 gene. Both brothers presented with different phenotypic manifestations and cancer spectrum. Treatment involving immune checkpoint inhibitors significantly contributed to prolonged survival in both patients affected by lethal gliomas. The uniform hypermutation also allowed immune-directed treatment using nivolumab for the B-cell lymphoma, thereby limiting the intensive chemotherapy exposure in this young patient who remains at risk for subsequent malignancies.
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Po ukončení testovacího provozu bude odkaz přesměrován adresu produkční verze portálu Medvik.