Background:—Synovial sarcoma is a rare soft tissue sarcoma.Treatment of synovial sarcoma includes surgery,radiation,pazopanib,and chemotherapy.Targeted therapies,such as B-Raf proto-oncogene,serine/threonine kinase(B...Background:—Synovial sarcoma is a rare soft tissue sarcoma.Treatment of synovial sarcoma includes surgery,radiation,pazopanib,and chemotherapy.Targeted therapies,such as B-Raf proto-oncogene,serine/threonine kinase(BRAF)inhibitors,are emerging as a potential treatment option.We describe the sixth case of a BRAF^(V600E)synovial sarcoma,the first extra-thoracic case.This case is the first to show a complete pathological response to BRAF&mitogen-activated protein kinase kinase(MEK)inhibitors.Case description:—We treated a 22-year-old male with a left groin BRAF^(V600E)synovial sarcoma with doxorubicin,Ifosphamide&Sodium 2-Mercaptoethanesulfonate.When we identified BRAF^(V600E)in the tumor,the BRAF^(V600E)and MEK inhibitors(dabrafenib&trametinib)were initiated,followed by surgery,with a complete pathological response.Nine months after the surgery,a local recurrence prompted the resumption of dabrafenib&trametinib followed by radiotherapy,resulting in complete radiological response and the development of hemophagocytic lymphohistiocytosis treated with corticosteroids with resolution of symptoms.Conclusion:—Panel sequencing of synovial sarcoma can identify targetable mutations.Treatment of BRAF^(V600E)synovial sarcoma with dabrafenib&trametinib can lead to complete pathological response and prolonged radiological response,as well as the rare adverse event of hemophagocytic lymphohistiocytosis.Prospective clinical trials are needed to evaluate the efficacy and safety of BRAF^(V600E)&MEK inhibitors as a therapeutic approach in BRAF^(V600E)synovial sarcoma.展开更多
目的:探讨超声引导下甲状腺细针穿刺活检(ultrasound-guided fine-needle aspiration biopsy,US-FNAB)细胞学检查联合BRAF^(V600E)基因检测在超声甲状腺影像报告和数据系统(thyroid imaging reporting and data system,TI-RADS)为4类、...目的:探讨超声引导下甲状腺细针穿刺活检(ultrasound-guided fine-needle aspiration biopsy,US-FNAB)细胞学检查联合BRAF^(V600E)基因检测在超声甲状腺影像报告和数据系统(thyroid imaging reporting and data system,TI-RADS)为4类、5类甲状腺结节中的诊断价值,以期更好地对甲状腺结节进行术前定性诊断。方法:回顾性分析2021年01月至2022年12月于我院行甲状腺超声引导下细针穿刺并行BRAF^(V600E)基因突变检测的2 252例甲状腺结节患者资料,以手术后病理结果为结节性质诊断的对照标准,观察细针穿刺细胞学检查联合BRAF^(V600E)基因检测在诊断甲状腺乳头状癌中的准确率。结果:通过细针穿刺细胞学联合BRAF^(V600E)基因突变检测发现,在TI-RADS 4A、4B、4C、5类结节中,乳头状癌的构成比分别为38.4%、77.1%、85.3%、92.8%,与术后病理结果基本一致。结论:TI-RADS4类和5类的甲状腺结节,进行US-FNAB联合BRAF^(V600E)基因检测可以更好的鉴别甲状腺结节的性质,对术前定性诊断有重要的临床意义。展开更多
基金Aviad Zick is funded by ISF,grants number 2279/22&3099/22&TRANSCAN3 EpiNanSarc.
文摘Background:—Synovial sarcoma is a rare soft tissue sarcoma.Treatment of synovial sarcoma includes surgery,radiation,pazopanib,and chemotherapy.Targeted therapies,such as B-Raf proto-oncogene,serine/threonine kinase(BRAF)inhibitors,are emerging as a potential treatment option.We describe the sixth case of a BRAF^(V600E)synovial sarcoma,the first extra-thoracic case.This case is the first to show a complete pathological response to BRAF&mitogen-activated protein kinase kinase(MEK)inhibitors.Case description:—We treated a 22-year-old male with a left groin BRAF^(V600E)synovial sarcoma with doxorubicin,Ifosphamide&Sodium 2-Mercaptoethanesulfonate.When we identified BRAF^(V600E)in the tumor,the BRAF^(V600E)and MEK inhibitors(dabrafenib&trametinib)were initiated,followed by surgery,with a complete pathological response.Nine months after the surgery,a local recurrence prompted the resumption of dabrafenib&trametinib followed by radiotherapy,resulting in complete radiological response and the development of hemophagocytic lymphohistiocytosis treated with corticosteroids with resolution of symptoms.Conclusion:—Panel sequencing of synovial sarcoma can identify targetable mutations.Treatment of BRAF^(V600E)synovial sarcoma with dabrafenib&trametinib can lead to complete pathological response and prolonged radiological response,as well as the rare adverse event of hemophagocytic lymphohistiocytosis.Prospective clinical trials are needed to evaluate the efficacy and safety of BRAF^(V600E)&MEK inhibitors as a therapeutic approach in BRAF^(V600E)synovial sarcoma.
