BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,fam...BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.展开更多
Introduction: Central serous chorioretinopathy (CSCR) is associated with serous sensorineural retinal detachment in the macular region. The condition that affects the male gender more than their female counterpart res...Introduction: Central serous chorioretinopathy (CSCR) is associated with serous sensorineural retinal detachment in the macular region. The condition that affects the male gender more than their female counterpart results from focal leakage disturbance of retinal pigment epithelial cells and choroidal abnormalities. The corticosteroid is highlighted as one of the major factors that promote the occurrence of CSCR. Stress and pregnancy, especially in the third trimester, have also been reported by some authors. Central serous chorioretinopathy associated with pregnancy complicated by retroplacental hematoma is a rare event. Observation: We report the case of a pregnant woman at approximately 34 weeks of amenorrhea who presented a sudden and severe drop in visual acuity on a pregnancy complicated by retroplacental hematoma and delivered by cesarean section. The diagnosis was based on clinical arguments associated with photos of the retina made by the MII Ret Cam device (Made In India, Retinoscope Camera) highlighting the lifting of the macular region. Ophthalmological monitoring without medical or physical treatment was instituted. At two months of progression without treatment, bilateral visual acuity was 10/10. Conclusion: Central serous chorioretinopathy and pregnancy is not unusual;however, its bilateral and brutal form in a context of pregnancy complicated by retroplacental hematoma is rare. Despite this favorable evolution, monitoring remains necessary in order to prevent recurrences and complications.展开更多
RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC...RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC重排与甲状腺的放射暴露、促炎性反应以及肿瘤的预后有关。针对此靶基因,目前有多种基因治疗方法正在研究过程中,并有望成为肿瘤治疗的新的突破口。展开更多
基金Supported by The Finance Bureau of Dongguan City,Guangdong Province.
文摘BACKGROUND Multiple endocrine neoplasia type 2(MEN2)is a rare,autosomal dominant endocrine disease.Currently,the RET proto-oncogene is the only gene implicated in MEN2A pathogenesis.Once an RET carrier is detected,family members should be screened to enable early detection of medullary thyroid carcinoma,pheochromocytoma,and hyperparatitity.Among these,medullary thyroid carcinoma is the main factor responsible for patient mortality.Accordingly,delineating strategies to inform clinical follow-up and treatment plans based on genes is paramount for clinical practitioners.CASE SUMMARY Herein,we present RET proto-oncogene mutations,clinical characteristics,and treatment strategies in a family with MEN2A.A family study was conducted on patients diagnosed with MEN2A.DNA was extracted from the peripheral blood of family members,and first-generation exon sequencing of the RET protooncogene was conducted.The C634Y mutation was identified in three family members spanning three generations.Two patients were sequentially diagnosed with pheochromocytomas and bilateral medullary thyroid carcinomas.A 9-yearold child harboring the gene mutation was diagnosed with medullary thyroid carcinoma.Surgical resection of the tumors was performed.All family members were advised to undergo complete genetic testing related to the C634Y mutation,and the corresponding treatments administered based on test results and associated clinical guidelines.CONCLUSION Advancements in MEN2A research are important for familial management,assessment of medullary thyroid cancer invasive risk,and deciding surgical timing.
文摘Introduction: Central serous chorioretinopathy (CSCR) is associated with serous sensorineural retinal detachment in the macular region. The condition that affects the male gender more than their female counterpart results from focal leakage disturbance of retinal pigment epithelial cells and choroidal abnormalities. The corticosteroid is highlighted as one of the major factors that promote the occurrence of CSCR. Stress and pregnancy, especially in the third trimester, have also been reported by some authors. Central serous chorioretinopathy associated with pregnancy complicated by retroplacental hematoma is a rare event. Observation: We report the case of a pregnant woman at approximately 34 weeks of amenorrhea who presented a sudden and severe drop in visual acuity on a pregnancy complicated by retroplacental hematoma and delivered by cesarean section. The diagnosis was based on clinical arguments associated with photos of the retina made by the MII Ret Cam device (Made In India, Retinoscope Camera) highlighting the lifting of the macular region. Ophthalmological monitoring without medical or physical treatment was instituted. At two months of progression without treatment, bilateral visual acuity was 10/10. Conclusion: Central serous chorioretinopathy and pregnancy is not unusual;however, its bilateral and brutal form in a context of pregnancy complicated by retroplacental hematoma is rare. Despite this favorable evolution, monitoring remains necessary in order to prevent recurrences and complications.
文摘RET(rearranged during transfection)原癌基因重排及突变与甲状腺乳头状癌(PTC)密切相关,它在调节细胞增殖、迁移、分化过程中具有重要意义。RET原癌基因及其编码蛋白的结构已经明确,此基因可介导多条信号转导通路。研究发现,RET/PTC重排与甲状腺的放射暴露、促炎性反应以及肿瘤的预后有关。针对此靶基因,目前有多种基因治疗方法正在研究过程中,并有望成为肿瘤治疗的新的突破口。
