BACKGROUND Renal cell carcinomas are usually unilateral.However,they are bilateral in 2%to 4%of sporadic cases and is considerably more common in familial cases.Synchronous sporadic bilateral multiple chromophobe rena...BACKGROUND Renal cell carcinomas are usually unilateral.However,they are bilateral in 2%to 4%of sporadic cases and is considerably more common in familial cases.Synchronous sporadic bilateral multiple chromophobe renal cell carcinoma(CHRCC)with different subtypes is rare.CASE SUMMARY In this case report,we describe a case of synchronous bilateral CHRCC with two histological variants,accompanied by a clear cell carcinoma and a cyst in a 50-year-old male.The patient underwent retroperitoneal laparoscopic bilateral nephron-sparing surgery and there was no serious postoperative renal dysfunction.CONCLUSION We report a rare case of synchronous bilateral CHRCC with two histological variants associated with a clear cell carcinoma and a cyst.展开更多
Objective GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease(NIID).Given the clinical overlap of cognitive impairment in NIID and cere...Objective GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease(NIID).Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease(CSVD),both diseases have white matter hyperintensity on T2-fluid attenuated inversion recovery sequences of brain MRI,and white matter hyperintensity is a primary neuroimaging marker of CSVD on MRI.Therefore,we hypothesised that the GGC repeat expansions might also contribute to CSVD.To further investigate the relationship between NOTCH2NLC GGC repeat expansions and CSVD,we performed a genetic analysis of 814 patients with the disease.Methods We performed a comprehensive GGC repeat expansion screening in NOTCH2NLC from 814 patients with sporadic CSVD.Their Fazekas score was greater than or equal to 3 points.Repeat-primed PCR and fluorescence amplicon length analyses were performed to identify GGC repeat expansions,and whole-exome sequencing was used to detect any pathogenic mutation in previously reported genes associated with CSVD.Results We identified nine(1.11%)patients with pathogenic GGC repeat expansions ranging from 41 to 98 repeats.The minor allele frequency of expanded GGC repeats in NOTCH2NLC was 0.55%.Conclusion Our findings suggest that intermediate-length and longer-length GGC repeat expansions in NOTCH2NLC are associated with sporadic CSVD.This provides new thinking for studying the pathogenesis of CSVD.展开更多
文摘BACKGROUND Renal cell carcinomas are usually unilateral.However,they are bilateral in 2%to 4%of sporadic cases and is considerably more common in familial cases.Synchronous sporadic bilateral multiple chromophobe renal cell carcinoma(CHRCC)with different subtypes is rare.CASE SUMMARY In this case report,we describe a case of synchronous bilateral CHRCC with two histological variants,accompanied by a clear cell carcinoma and a cyst in a 50-year-old male.The patient underwent retroperitoneal laparoscopic bilateral nephron-sparing surgery and there was no serious postoperative renal dysfunction.CONCLUSION We report a rare case of synchronous bilateral CHRCC with two histological variants associated with a clear cell carcinoma and a cyst.
基金supported by the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences[grant number 2020-PT310-01]the National Natural Science Foundation of China to Dr.Chang-he Shi[grant number 82171247,81974211]the National Natural Science Foundation of China to Dr.Yu-ming Xu[grant numbers U1904207].
文摘Objective GGC repeat expansions in the human-specific NOTCH2NLC gene have been reported as the cause of neuronal intranuclear inclusion disease(NIID).Given the clinical overlap of cognitive impairment in NIID and cerebral small vessel disease(CSVD),both diseases have white matter hyperintensity on T2-fluid attenuated inversion recovery sequences of brain MRI,and white matter hyperintensity is a primary neuroimaging marker of CSVD on MRI.Therefore,we hypothesised that the GGC repeat expansions might also contribute to CSVD.To further investigate the relationship between NOTCH2NLC GGC repeat expansions and CSVD,we performed a genetic analysis of 814 patients with the disease.Methods We performed a comprehensive GGC repeat expansion screening in NOTCH2NLC from 814 patients with sporadic CSVD.Their Fazekas score was greater than or equal to 3 points.Repeat-primed PCR and fluorescence amplicon length analyses were performed to identify GGC repeat expansions,and whole-exome sequencing was used to detect any pathogenic mutation in previously reported genes associated with CSVD.Results We identified nine(1.11%)patients with pathogenic GGC repeat expansions ranging from 41 to 98 repeats.The minor allele frequency of expanded GGC repeats in NOTCH2NLC was 0.55%.Conclusion Our findings suggest that intermediate-length and longer-length GGC repeat expansions in NOTCH2NLC are associated with sporadic CSVD.This provides new thinking for studying the pathogenesis of CSVD.
