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 ...

Přehled o publikaci

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.

Basic information

Original name

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

Authors

Edition

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

Other information

Language

English

Type of outcome

Article in a journal

Country of publisher

Germany

Confidentiality degree

is not subject to a state or trade secret

References:

URL

Organization

Lékařská fakulta – Repository – Repository

DOI

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

UT WoS

001228647800002

EID Scopus

2-s2.0-85193939549

Keywords in English

malignant tumor; constitutional mismatch repair deficiency syndrome

Links

LX22NPO5102, research and development project. MUNI/A/1625/2023, interní kód Repo. NU20-03-00240, research and development project. NV19-03-00562, research and development project. CZECRIN IV, large research infrastructures. NCMG III, large research infrastructures.

Changed: 4/4/2025 00:50, RNDr. Daniel Jakubík

Abstract

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.

Files attached

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

Cite

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 and 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, vol. 8, No 1, p. 1-9. ISSN 2397-768X. Available from: 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 and 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, vol.~8, No~1, p.~1-9. ISSN~2397-768X. Available from: https://dx.doi.org/10.1038/s41698-024-00597-8.