Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion Driven Carcinoma: Case Report and Literature Review

被引：5

作者：

Domen, Andreas ^{[1
,2
]}

VAN Paesschen, Carl ^{[2
]}

Zwaenepoel, Karen ^{[1
,3
]}

Lambin, Suzan ^{[3
]}

Pauwels, Patrick ^{[1
,3
]}

Rasschaert, Marika ^{[2
]}

Segelov, E. V. A. ^{[4
,5
]}

Peeters, Marc ^{[1
,2
]}

Prenen, Hans ^{[1
,2
]}

机构：

[1] Univ Antwerp, Ctr Oncol Res CORE, Integrated Personalized & Precis Oncol Network IP, Antwerp, Belgium

[2] Antwerp Univ Hosp UZA, Dept Oncol, B-2650 Edegem, Belgium

[3] Antwerp Univ Hosp UZA, Dept Pathol, Edegem, Belgium

[4] Sch Clin Sci, Clayton, Vic, Australia

[5] Monash Univ, Monash Hlth Clayton, Dept Oncol, Fac Med, Clayton, Vic, Australia

来源：

ANTICANCER RESEARCH | 2022年 / 42卷 / 01期

关键词：

AGK-BRAF gene fusion; myoepithelial carcinoma; MEK-inhibitor; cobimetinib; next generation sequencing; NGS; CLINICAL-PRACTICE GUIDELINES; SOFT-TISSUE; MYOEPITHELIAL CARCINOMA; RAF KINASE; MELANOMA; DIAGNOSIS; CHILDREN; THERAPY; CANCER; TUMOR;

D O I：

10.21873/anticanres.15495

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background: Soft tissue myoepithelial carcinomas (STMC) are a rare, malignant subgroup of myoepithelial tumors that arise typically in glandular or ductal tissues, but also in the bone and soft and cutaneous tissues. Due to its rarity, there is no consensus regarding the treatment of STMC, including chemotherapy or other systemic agents for metastatic STMC. Case Report: A chemotherapy- and regorafenibrefractory STMC, harboring an AGK-BRAF fusion, was successfully treated using MEK-inhibition with cobimetinib in monotherapy. MEK-inhibition with cobimetinib effectively silenced paradoxical MAP kinase/ERK-signaling pathway activation after regorafenib monotherapy, and resulted in a significant and durable clinical response. Conclusion: This effect of MEK-inhibition in STMC harboring an AGK-BRAF fusion has not been previously reported and contributes to the existing, yet limited, knowledge on the treatment of BRAF fusion-driven tumors. Also, our case highlights the importance of next generation sequencing in driving further rational therapeutic choices to provide disease control and palliation.

引用

页码：373 / 379

页数：7

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