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 and Ondřej SLABÝ

Basic information

Original name

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

Name in Czech

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

Authors

EID, Michal (203 Czech Republic, guarantor, belonging to the institution), Martina JELÍNKOVÁ (203 Czech Republic, belonging to the institution), Jiří ŠÁNA (203 Czech Republic, belonging to the institution) and Ondřej SLABÝ (203 Czech Republic, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30204 Oncology

Country of publisher

Netherlands

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

RIV identification code

RIV/00216224:14110/22:00127579

Organization unit

Faculty of Medicine

DOI

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

UT WoS

001025213300002

Keywords (in Czech)

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

Keywords in English

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

Abstract

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.

Links

MUNI/A/1330/2021, interní kód MU

Name: Nové přístupy ve výzkumu, diagnostice a terapii hematologických malignit IX (Acronym: VýDiTeHeMa IX)

Investor: Masaryk University

Citovat

EID, Michal, Martina JELÍNKOVÁ, Jiří ŠÁNA and 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, vol. 8, December 2022, p. 1-4. ISSN 2666-6219. Available from: 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 and 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, vol.~8, December 2022, p.~1-4. ISSN~2666-6219. Available from: https://dx.doi.org/10.1016/j.cpccr.2022.100207.

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