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

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Precision immuno-oncology approach for four malignant tumors in siblings with constitutional ...

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J 2024

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

PÁLOVÁ, Hana; Anirban DAS; Petra POKORNÁ; Viera BAJČIOVÁ; Zdeněk PAVELKA et. al.

Základní údaje

Originální název

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

Autoři

Vydání

NPJ PRECISION ONCOLOGY, Berůom, NATURE PORTFOLIO, 2024, 2397-768X

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Stát vydavatele

Německo

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Organizace

Lékařská fakulta – Masarykova univerzita – Repozitář

DOI

http://dx.doi.org/10.1038/s41698-024-00597-8

UT WoS

001228647800002

EID Scopus

2-s2.0-85193939549

Klíčová slova anglicky

malignant tumor; constitutional mismatch repair deficiency syndrome

Návaznosti

LX22NPO5102, projekt VaV. MUNI/A/1625/2023, interní kód Repo. NU20-03-00240, projekt VaV. NV19-03-00562, projekt VaV. CZECRIN IV, velká výzkumná infrastruktura. NCMG III, velká výzkumná infrastruktura.

Změněno: 4. 4. 2025 00:50, RNDr. Daniel Jakubík

Anotace

V originále

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.

Přiložené soubory

https://is.muni.cz/publication/2409797/Precision_immuno-oncology_approach_for_four_malignant_tumors_in_siblings_with_constitutional_mismatch_repair_deficiency_syndrome.pdf

Citovat

PÁLOVÁ, Hana; Anirban DAS; Petra POKORNÁ; Viera BAJČIOVÁ; Zdeněk PAVELKA; Marta JEŽOVÁ; Karol PÁL; Jose R DIMAYACYAC; Logine NEGM; Lucie STENGS; Vanessa BIANCHI; Klára VEJMĚLKOVÁ; Kristýna NOSKOVÁ; Marie JAROŠOVÁ; Soňa MEJSTŘÍKOVÁ; Peter MÚDRY; Michal KÝR; Tomáš MERTA; Pavel TINKA; Klára DRÁBOVÁ; Štefánia AULICKÁ; Robin JUGAS; Uri TABORI; Ondřej SLABÝ a Jaroslav ŠTĚRBA. Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome. NPJ PRECISION ONCOLOGY. Berůom: NATURE PORTFOLIO, 2024, roč. 8, č. 1, s. 1-9. ISSN 2397-768X. Dostupné z: https://dx.doi.org/10.1038/s41698-024-00597-8.

@article{61573,
   author = {Pálová, Hana and Das, Anirban and Pokorná, Petra and Bajčiová, Viera and Pavelka, Zdeněk and Ježová, Marta and Pál, Karol and Dimayacyac, Jose R and Negm, Logine and Stengs, Lucie and Bianchi, Vanessa and Vejmělková, Klára and Nosková, Kristýna and Jarošová, Marie and Mejstříková, Soňa and Múdry, Peter and Kýr, Michal and Merta, Tomáš and Tinka, Pavel and Drábová, Klára and Aulická, Štefánia and Jugas, Robin and Tabori, Uri and Slabý, Ondřej and Štěrba, Jaroslav},
   article_location = {Berůom},
   article_number = {1},
   doi = {http://dx.doi.org/10.1038/s41698-024-00597-8},
   keywords = {malignant tumor; constitutional mismatch repair deficiency syndrome},
   language = {eng},
   issn = {2397-768X},
   journal = {NPJ PRECISION ONCOLOGY},
   title = {Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome},
   url = {https://www.nature.com/articles/s41698-024-00597-8},
   volume = {8},
   year = {2024}
}

TY  - JOUR
ID  - 61573
AU  - Pálová, Hana - Das, Anirban - Pokorná, Petra - Bajčiová, Viera - Pavelka, Zdeněk - 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
PY  - 2024
TI  - Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome
JF  - NPJ PRECISION ONCOLOGY
VL  - 8
IS  - 1
SP  - 1-9
EP  - 1-9
PB  - NATURE PORTFOLIO
SN  - 2397-768X
KW  - malignant tumor
KW  - constitutional mismatch repair deficiency syndrome
UR  - https://www.nature.com/articles/s41698-024-00597-8
N2  - 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.
ER  -

PÁLOVÁ, Hana; Anirban DAS; Petra POKORNÁ; Viera BAJČIOVÁ; Zdeněk PAVELKA; Marta JEŽOVÁ; Karol PÁL; Jose R DIMAYACYAC; Logine NEGM; Lucie STENGS; Vanessa BIANCHI; Klára VEJMĚLKOVÁ; Kristýna NOSKOVÁ; Marie JAROŠOVÁ; Soňa MEJSTŘÍKOVÁ; Peter MÚDRY; Michal KÝR; Tomáš MERTA; Pavel TINKA; Klára DRÁBOVÁ; Štefánia AULICKÁ; Robin JUGAS; Uri TABORI; Ondřej SLABÝ a Jaroslav ŠTĚRBA. Precision immuno-oncology approach for four malignant tumors in siblings with constitutional mismatch repair deficiency syndrome. \textit{NPJ PRECISION ONCOLOGY}. Berůom: NATURE PORTFOLIO, 2024, roč.~8, č.~1, s.~1-9. ISSN~2397-768X. Dostupné z: https://dx.doi.org/10.1038/s41698-024-00597-8.