| Autor: |
Hana Palova, Anirban Das, Petra Pokorna, Viera Bajciova, Zdenek Pavelka, Marta Jezova, Karol Pal, Jose R. Dimayacyac, Logine Negm, Lucie Stengs, Vanessa Bianchi, Klara Vejmelkova, Kristyna Noskova, Marie Jarosova, Sona Mejstrikova, Peter Mudry, Michal Kyr, Tomas Merta, Pavel Tinka, Klara Drabova, Stefania Aulicka, Robin Jugas, Uri Tabori, Ondrej Slaby, Jaroslav Sterba |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
npj Precision Oncology, Vol 8, Iss 1, Pp 1-9 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2397-768X |
| DOI: |
10.1038/s41698-024-00597-8 |
| Popis: |
Abstract 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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