Advances in technology are enabling gene mutations in papillary thyroid carcinoma(PTC)to be analyzed and clinical outcomes,such as recurrence,to be predicted.To date,the most common genetic mutation in PTC is in BRAF ...Advances in technology are enabling gene mutations in papillary thyroid carcinoma(PTC)to be analyzed and clinical outcomes,such as recurrence,to be predicted.To date,the most common genetic mutation in PTC is in BRAF kinase(BRAF).However,whether mutations in other genes coincide with those in BRAF remains to be clarified.The aim of this study was to find mutations in other genes that co-exist with mutated BRAF,and to analyze their frequency and clinical relevance in PTC.Clinical and genetic data were collected from 213 PTC patients with a total of 36,572 mutation sites in 735 genes.After matching with genes from PTC entries in a global database(NCBI Gene),69 genes with mutations in coding regions were chosen for further study.Through frequency-based analysis,we identified commonly mutated genes co-existing with mutated BRAF and,using the mutation count correlation matrix(MCCM)method,analyzed their incidence according to age and gender.We designed Chord diagrams to reveal gene relationships concerning age and gender,and found that mutations in ALK,ATM,COL1A1,MSTIR,PRKCA,and WNK1 most commonly coincide with mutated BRAF,followed by APC,AURKA,and AURKB.These findings provide further insight into the genetic profile of PTC.展开更多
Background Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. Methods Thre...Background Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. Methods Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor β-induced gene (BIGH3 gene) was performed. Results Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H. Conclusion Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.展开更多
BACKGROUND Schwannomas,also known as neurinomas,are tumors that derive from Schwann cells.Gastrointestinal schwannomas are extremely rare,but the stomach is the most common site.Gastric schwannomas are usually asympto...BACKGROUND Schwannomas,also known as neurinomas,are tumors that derive from Schwann cells.Gastrointestinal schwannomas are extremely rare,but the stomach is the most common site.Gastric schwannomas are usually asymptomatic.Endoscopy and imaging modalities might offer useful preliminary diagnostic information.However,to diagnose schwannoma,the immunohistochemical positivity for S-100 protein is essential,whereas CD117,CD34,SMA,desmin,and DOG-1 are negative.CASE SUMMARY A 45-year-old female was found to have a gastric mass during a medical examination,which was diagnosed as a gastric schwannoma.We performed endoscopic full-thickness resection and endoscopic purse-string suture.Pathology and immunohistochemical staining confirmed the diagnosis of gastric schwannoma through the positivity of S-100 protein.Furthermore,to exclude the misdiagnosis of gastrointestinal stromal tumor,we performed a mutational detection of the c-Kit and PDGFRA genes.Postoperative follow-up revealed that the patient recovered well.CONCLUSION Immunohistochemical staining is essential for the diagnosis of schwannoma.Endoscopic full-thickness resection is an effective treatment method for gastric schwannoma.展开更多
基金supported by Grant No.02-2015-015 from the Seoul National University Bundang Hospital research fund.The funders had no role in the design of the studythe collection,analyses,or interpretation of the data+1 种基金the writing of the manuscriptor the decision to publish the results.
文摘Advances in technology are enabling gene mutations in papillary thyroid carcinoma(PTC)to be analyzed and clinical outcomes,such as recurrence,to be predicted.To date,the most common genetic mutation in PTC is in BRAF kinase(BRAF).However,whether mutations in other genes coincide with those in BRAF remains to be clarified.The aim of this study was to find mutations in other genes that co-exist with mutated BRAF,and to analyze their frequency and clinical relevance in PTC.Clinical and genetic data were collected from 213 PTC patients with a total of 36,572 mutation sites in 735 genes.After matching with genes from PTC entries in a global database(NCBI Gene),69 genes with mutations in coding regions were chosen for further study.Through frequency-based analysis,we identified commonly mutated genes co-existing with mutated BRAF and,using the mutation count correlation matrix(MCCM)method,analyzed their incidence according to age and gender.We designed Chord diagrams to reveal gene relationships concerning age and gender,and found that mutations in ALK,ATM,COL1A1,MSTIR,PRKCA,and WNK1 most commonly coincide with mutated BRAF,followed by APC,AURKA,and AURKB.These findings provide further insight into the genetic profile of PTC.
文摘Background Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy. Methods Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor β-induced gene (BIGH3 gene) was performed. Results Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H. Conclusion Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.
文摘BACKGROUND Schwannomas,also known as neurinomas,are tumors that derive from Schwann cells.Gastrointestinal schwannomas are extremely rare,but the stomach is the most common site.Gastric schwannomas are usually asymptomatic.Endoscopy and imaging modalities might offer useful preliminary diagnostic information.However,to diagnose schwannoma,the immunohistochemical positivity for S-100 protein is essential,whereas CD117,CD34,SMA,desmin,and DOG-1 are negative.CASE SUMMARY A 45-year-old female was found to have a gastric mass during a medical examination,which was diagnosed as a gastric schwannoma.We performed endoscopic full-thickness resection and endoscopic purse-string suture.Pathology and immunohistochemical staining confirmed the diagnosis of gastric schwannoma through the positivity of S-100 protein.Furthermore,to exclude the misdiagnosis of gastrointestinal stromal tumor,we performed a mutational detection of the c-Kit and PDGFRA genes.Postoperative follow-up revealed that the patient recovered well.CONCLUSION Immunohistochemical staining is essential for the diagnosis of schwannoma.Endoscopic full-thickness resection is an effective treatment method for gastric schwannoma.
