Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report
Gene fusions offer new therapeutic options for patients with metastatic colon cancer (CC). BRAF gene fusions are infrequent somatic mutations found in CC with prognostic and promising targeted therapies. CC diagnosed before the age of 50 was regarded as early-onset CC (EOCC). The incidence of EOCC i...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-12-01
|
| Series: | Heliyon |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2405844024167849 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850244841540157440 |
|---|---|
| author | Tingting Zhao Junting Yang Meirong Wang Jie Liu |
| author_facet | Tingting Zhao Junting Yang Meirong Wang Jie Liu |
| author_sort | Tingting Zhao |
| collection | DOAJ |
| description | Gene fusions offer new therapeutic options for patients with metastatic colon cancer (CC). BRAF gene fusions are infrequent somatic mutations found in CC with prognostic and promising targeted therapies. CC diagnosed before the age of 50 was regarded as early-onset CC (EOCC). The incidence of EOCC is increasing, yet there is a clear unmet need to improve the management of EOCC. Herein, we selectively reported a case of metastatic EOCC with rare BRAF gene fusions. The right-sided tumors were radically resected. Next-generation sequencing (NGS) was performed on formalin-fixed paraffin-embedded tissues to eliminate gene variations. Histologically, the colonic hepatic flexure showed focal mucinous adenocarcinoma changes along with high-grade intraepithelial neoplasia. The results of histopathological examination belonged to pT1bN1bM0 ⅢA stage. Targeted DNA sequencing revealed AGAP3::BRAF (A10;B9) fusion and BRAF::AGAP3 (B8;A11) fusion were simultaneously detected in this case. Microsatellite instability-high (MSI-H) and RAS/BRAF V600E mutations were not detected. During a limited 1.5-year follow-up period, neither a confirmed local recurrence nor a distant organ metastasis occurred in this case. We propose that BRAF fusion variations can occur in metastatic EOCC. |
| format | Article |
| id | doaj-art-7a4d8203db2e4b5193720a912271de92 |
| institution | OA Journals |
| issn | 2405-8440 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Heliyon |
| spelling | doaj-art-7a4d8203db2e4b5193720a912271de922025-08-20T01:59:38ZengElsevierHeliyon2405-84402024-12-011023e4075310.1016/j.heliyon.2024.e40753Rare BRAF gene fusions in metastatic early-onset colon cancer: A case reportTingting Zhao0Junting Yang1Meirong Wang2Jie Liu3Department of Clinical Laboratory, Yantai Yuhuangding Hospital, Yantai, ChinaDepartment of Clinical Laboratory, Yantai Yuhuangding Hospital, Yantai, ChinaDepartment of Clinical Laboratory, Yantai Yuhuangding Hospital, Yantai, ChinaCorresponding author.; Department of Clinical Laboratory, Yantai Yuhuangding Hospital, Yantai, ChinaGene fusions offer new therapeutic options for patients with metastatic colon cancer (CC). BRAF gene fusions are infrequent somatic mutations found in CC with prognostic and promising targeted therapies. CC diagnosed before the age of 50 was regarded as early-onset CC (EOCC). The incidence of EOCC is increasing, yet there is a clear unmet need to improve the management of EOCC. Herein, we selectively reported a case of metastatic EOCC with rare BRAF gene fusions. The right-sided tumors were radically resected. Next-generation sequencing (NGS) was performed on formalin-fixed paraffin-embedded tissues to eliminate gene variations. Histologically, the colonic hepatic flexure showed focal mucinous adenocarcinoma changes along with high-grade intraepithelial neoplasia. The results of histopathological examination belonged to pT1bN1bM0 ⅢA stage. Targeted DNA sequencing revealed AGAP3::BRAF (A10;B9) fusion and BRAF::AGAP3 (B8;A11) fusion were simultaneously detected in this case. Microsatellite instability-high (MSI-H) and RAS/BRAF V600E mutations were not detected. During a limited 1.5-year follow-up period, neither a confirmed local recurrence nor a distant organ metastasis occurred in this case. We propose that BRAF fusion variations can occur in metastatic EOCC.http://www.sciencedirect.com/science/article/pii/S2405844024167849BRAFGene fusionsEarly-onset colon cancerNext-generation sequencingCase report |
| spellingShingle | Tingting Zhao Junting Yang Meirong Wang Jie Liu Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report Heliyon BRAF Gene fusions Early-onset colon cancer Next-generation sequencing Case report |
| title | Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report |
| title_full | Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report |
| title_fullStr | Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report |
| title_full_unstemmed | Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report |
| title_short | Rare BRAF gene fusions in metastatic early-onset colon cancer: A case report |
| title_sort | rare braf gene fusions in metastatic early onset colon cancer a case report |
| topic | BRAF Gene fusions Early-onset colon cancer Next-generation sequencing Case report |
| url | http://www.sciencedirect.com/science/article/pii/S2405844024167849 |
| work_keys_str_mv | AT tingtingzhao rarebrafgenefusionsinmetastaticearlyonsetcoloncanceracasereport AT juntingyang rarebrafgenefusionsinmetastaticearlyonsetcoloncanceracasereport AT meirongwang rarebrafgenefusionsinmetastaticearlyonsetcoloncanceracasereport AT jieliu rarebrafgenefusionsinmetastaticearlyonsetcoloncanceracasereport |