Efficacy of encorafenib and cetuximab therapy in a young
patient with a rare concomitant KRAS and BRAF mutation in
primary rectal cancer and wild-type KRAS status in metastases:
A case report and literature review

J 2022

Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review

EID, Michal, Martina JELÍNKOVÁ, Jiří ŠÁNA a Ondřej SLABÝ

Základní údaje

Originální název

Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review

Název česky

Účinnost terapie s encorafenibem a cetuximabem u mladé pacientky se vzácnou konkomitantní KRAS a BRAF mutací primárního karcinomu rekta a wild-type KRAS stavem v metastázách: kazuistika a přehled literatury

Autoři

EID, Michal (203 Česká republika, garant, domácí), Martina JELÍNKOVÁ (203 Česká republika, domácí), Jiří ŠÁNA (203 Česká republika, domácí) a Ondřej SLABÝ (203 Česká republika, domácí)

Vydání

Current Problems in Cancer: Case Reports, Amsterdam, Elsevier, 2022, 2666-6219

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30204 Oncology

Stát vydavatele

Nizozemské království

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/22:00127579

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.cpccr.2022.100207

UT WoS

001025213300002

Klíčová slova česky

BRAF; Kazuistika; Kolorektální karcinom; Komplexní genomové profilování; KRAS

Klíčová slova anglicky

BRAF; Case report; Colorectal cancer; Comprehensive genomic profiling; KRAS

Štítky

14110212, 14110230, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 1. 8. 2024 13:43, Mgr. Tereza Miškechová

Anotace

V originále

The presence of activating somatic mutations in the KRAS and NRAS oncogenes is a negative predictor of treatment with the anti-epidermal growth factor receptor (EGFR) monoclonal antibody in colorectal cancer. The BRAF oncogene also plays an important role in carcinogenesis, and, in colorectal cancer, is associated with an unfavorable prognosis. Mutations in RAS and BRAF are usually considered mutually exclusive. Concomitant mutations present in these oncogenes are rare. However, according to recent analyzes, the incidence of concomitant RAS and BRAF mutations in colorectal cancer may be higher than it is currently expected. In the presented case report of a 44-year-old woman treated for metastatic rectal cancer with concomitant KRAS and BRAF mutations in primary tumor and wild-type KRAS status in metastases, we demonstrated improved survival outcome and quality of life after treatment with BRAF inhibitor encorafenib and the anti-EGFR monoclonal antibody cetuximab.

Návaznosti

MUNI/A/1330/2021, interní kód MU

Název: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit IX (Akronym: VýDiTeHeMa IX)

Investor: Masarykova univerzita, Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit IX

Citovat

EID, Michal, Martina JELÍNKOVÁ, Jiří ŠÁNA a Ondřej SLABÝ. Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review. Current Problems in Cancer: Case Reports. Amsterdam: Elsevier, 2022, roč. 8, December 2022, s. 1-4. ISSN 2666-6219. Dostupné z: https://dx.doi.org/10.1016/j.cpccr.2022.100207.

@article{2242241,
   author = {Eid, Michal and Jelínková, Martina and Šána, Jiří and Slabý, Ondřej},
   article_location = {Amsterdam},
   article_number = {December 2022},
   doi = {http://dx.doi.org/10.1016/j.cpccr.2022.100207},
   keywords = {BRAF; Case report; Colorectal cancer; Comprehensive genomic profiling; KRAS},
   language = {eng},
   issn = {2666-6219},
   journal = {Current Problems in Cancer: Case Reports},
   title = {Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review},
   url = {https://www.sciencedirect.com/science/article/pii/S2666621922000710?via%3Dihub},
   volume = {8},
   year = {2022}
}

TY  - JOUR
ID  - 2242241
AU  - Eid, Michal - Jelínková, Martina - Šána, Jiří - Slabý, Ondřej
PY  - 2022
TI  - Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review
JF  - Current Problems in Cancer: Case Reports
VL  - 8
IS  - December 2022
SP  - 1-4
EP  - 1-4
PB  - Elsevier
SN  - 26666219
KW  - BRAF
KW  - Case report
KW  - Colorectal cancer
KW  - Comprehensive genomic profiling
KW  - KRAS
UR  - https://www.sciencedirect.com/science/article/pii/S2666621922000710?via%3Dihub
N2  - The presence of activating somatic mutations in the KRAS and NRAS oncogenes is a negative predictor of treatment with the anti-epidermal growth factor receptor (EGFR) monoclonal antibody in colorectal cancer. The BRAF oncogene also plays an important role in carcinogenesis, and, in colorectal cancer, is associated with an unfavorable prognosis. Mutations in RAS and BRAF are usually considered mutually exclusive. Concomitant mutations present in these oncogenes are rare. However, according to recent analyzes, the incidence of concomitant RAS and BRAF mutations in colorectal cancer may be higher than it is currently expected. In the presented case report of a 44-year-old woman treated for metastatic rectal cancer with concomitant KRAS and BRAF mutations in primary tumor and wild-type KRAS status in metastases, we demonstrated improved survival outcome and quality of life after treatment with BRAF inhibitor encorafenib and the anti-EGFR monoclonal antibody cetuximab.
ER  -

EID, Michal, Martina JELÍNKOVÁ, Jiří ŠÁNA a Ondřej SLABÝ. Efficacy of encorafenib and cetuximab therapy in a young patient with a rare concomitant KRAS and BRAF mutation in primary rectal cancer and wild-type KRAS status in metastases: A case report and literature review. \textit{Current Problems in Cancer: Case Reports}. Amsterdam: Elsevier, 2022, roč.~8, December 2022, s.~1-4. ISSN~2666-6219. Dostupné z: https://dx.doi.org/10.1016/j.cpccr.2022.100207.

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