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
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2022-12-01
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| Series: | Current Problems in Cancer: Case Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2666621922000710 |
| _version_ | 1811178610064621568 |
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| author | Michal Eid Martina Jelínková Jiří Šána Ondřej Slabý |
| author_facet | Michal Eid Martina Jelínková Jiří Šána Ondřej Slabý |
| author_sort | Michal Eid |
| collection | DOAJ |
| description | 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. Patient Consent Statement: Written informed consent was obtained from the patient's family for the publication of this report. |
| first_indexed | 2024-04-11T06:21:25Z |
| format | Article |
| id | doaj.art-0316cc69c4894177a4d36b980b476368 |
| institution | Directory Open Access Journal |
| issn | 2666-6219 |
| language | English |
| last_indexed | 2024-04-11T06:21:25Z |
| publishDate | 2022-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Current Problems in Cancer: Case Reports |
| spelling | doaj.art-0316cc69c4894177a4d36b980b4763682022-12-22T04:40:33ZengElsevierCurrent Problems in Cancer: Case Reports2666-62192022-12-018100207Efficacy 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 reviewMichal Eid0Martina Jelínková1Jiří Šána2Ondřej Slabý3Department of Hematology, Oncology and Internal Medicine, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 625 00 Brno, Czech Republic; Corresponding author.Department of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 625 00 Brno, Czech RepublicDepartment of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 625 00 Brno, Czech Republic; Central European Institute of Technology and Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czech RepublicDepartment of Pathology, University Hospital Brno, Faculty of Medicine, Masaryk University, Jihlavska 20, 625 00 Brno, Czech Republic; Central European Institute of Technology and Faculty of Medicine, Masaryk University, Kamenice 5, 625 00 Brno, Czech RepublicThe 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. Patient Consent Statement: Written informed consent was obtained from the patient's family for the publication of this report.http://www.sciencedirect.com/science/article/pii/S2666621922000710Colorectal cancerKRASBRAFComprehensive genomic profilingCase report |
| spellingShingle | Michal Eid Martina Jelínková Jiří Šána 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 Colorectal cancer KRAS BRAF Comprehensive genomic profiling Case report |
| 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| topic | Colorectal cancer KRAS BRAF Comprehensive genomic profiling Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2666621922000710 |
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