Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome

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Publikace nespadá pod Fakultu sportovních studií, ale pod Lékařskou fakultu. Oficiální stránka publikace je na webu muni.cz.
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PÁLOVÁ Hana DAS Anirban POKORNÁ Petra BAJČIOVÁ Viera PAVELKA Zdenek JEŽOVÁ Marta PÁL Karol DIMAYACYAC Jose R NEGM Logine STENGS Lucie BIANCHI Vanessa VEJMĚLKOVÁ Klára NOSKOVÁ Kristýna JAROŠOVÁ Marie MEJSTŘÍKOVÁ Soňa MÚDRY Peter KÝR Michal MERTA Tomáš TINKA Pavel DRÁBOVÁ Klára AULICKÁ Štefánia JUGAS Robin TABORI Uri SLABÝ Ondřej ŠTĚRBA Jaroslav

Rok publikování 2024
Druh Článek v odborném periodiku
Časopis / Zdroj NPJ PRECISION ONCOLOGY
Fakulta / Pracoviště MU

Lékařská fakulta

Citace
www https://www.nature.com/articles/s41698-024-00597-8
Doi http://dx.doi.org/10.1038/s41698-024-00597-8
Klíčová slova malignant tumor; constitutional mismatch repair deficiency syndrome
Přiložené soubory
Popis 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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