Article
Medicine, General & Internal
Shaofang Huang, Kangxiang Xu, Yuqi Xu, Lu Zhao, Xiaoju He
Summary: TSC2/PKD1 contiguous gene deletion syndrome is a rare disease characterized by the deletions of TSC2 and PKD1 genes, leading to clinical manifestations of tuberous sclerosis and polycystic kidney disease. This case report describes the first known case of TSC2/PKD1 contiguous gene deletions in a pregnant woman. The patient exhibited multiple clinical features including renal cysts, angiomyolipoma, hypomelanotic macules, and subependymal giant cell astrocytoma.
FRONTIERS IN MEDICINE
(2023)
Article
Urology & Nephrology
Sounak Gupta, Christine M. Lohse, Ross Rowsey, Michael R. McCarthy, Wei Shen, Loren Herrera-Hernandez, Stephen A. Boorjian, R. Houston Thompson, Rafael E. Jimenez, Bradley C. Leibovich, John C. Cheville
Summary: The incidence of renal neoplasia among patients with polycystic kidney disease (PKD) undergoing nephrectomy was investigated. It was found that 11.3% of PKD patients had renal neoplasia, consisting mainly of low-grade renal cell carcinomas and angiomyolipomas. Screening for PKD1/TSC2 contiguous gene deletion syndrome in patients with TSC-associated renal neoplasia is recommended.
Article
Medicine, General & Internal
Linli Liu, Chunshui Yu, Gaowu Yan
Summary: This article reports a novel pathological variant in the TSC2 gene that leads to aberrant splicing, confirmed through a minigene assay.
Article
Genetics & Heredity
Yang Zhao, Hao Guo, Wenda Wang, Guoyang Zheng, Zhan Wang, Xu Wang, Yushi Zhang
Summary: Our study identified 491 differentially expressed circRNAs (DECs) and 212 differentially expressed genes (DEGs) in TSC-RAML, with 6 DECs further confirmed by q-PCR. A competitive endogenous RNA (ceRNA) regulatory network comprising 6 DECs, 5 miRNAs, and 63 mRNAs was established. Lipid biosynthetic process was up-regulated, while humoral immune response and leukocyte chemotaxis pathway were down-regulated in TSC-RAML. The enrichment of fibroblasts in TSC-RAML and the correlation of up-regulated circRNA_000799 and circRNA_025332 with fibroblast infiltration were highlighted.
Article
Genetics & Heredity
Liangyou Gu, Cheng Peng, Fan Zhang, Cunjin Fang, Gang Guo
Summary: This study evaluated the efficacy, safety, and health economics of sequential everolimus treatment for angiomyolipoma associated with tuberous sclerosis complex. It found that sequential treatment was equally effective as standard treatment with a lower incidence of adverse events and lower direct cost, suggesting it may be a viable alternative treatment option.
ORPHANET JOURNAL OF RARE DISEASES
(2021)
Article
Pediatrics
Shuo Dun, Yang-Yang Wang, Lin Wan, Qiu-Hong Wang, Qian Lu, Xiao-Yan Yang, Qi Zhang, Hui-Min Chen, Lu-Peng Qiu, Li-Ping Zou
Summary: This study investigated the efficacy and safety of sirolimus in children with TSC-associated RAML. It was found that sirolimus could promote the disappearance of TSC-related RAML, and the disappearance rate was correlated with the maximum diameter at baseline, with smaller tumors having a higher disappearance rate.
WORLD JOURNAL OF PEDIATRICS
(2023)
Article
Urology & Nephrology
Kathrin Bausch, Christian Wetterauer, Julian Diethelm, Jan Ebbing, Daniel T. Boll, Patricia Dill, Cyrill A. Rentsch, Hans-H. Seifert
Summary: The study aimed to assess the correlation between renal angiomyolipoma (AML) and tuberous sclerosis complex (TSC). Results indicated that patients with bilateral AML in the age-range of 18-40 years were more likely to have TSC, suggesting further investigations for TSC in patients with multiple bilateral renal AML.
Editorial Material
Radiology, Nuclear Medicine & Medical Imaging
Aisheng Dong, Bo Yang, Qinqin Yang, Chao Cheng, Changjing Zuo
Summary: We report a case of tuberous sclerosis complex with multiple angiomyolipomas involving bilateral kidneys and an extrarenal retroperitoneal angiomyolipoma. The Ga-68-FAPI-04 PET/MRI showed that the extrarenal tumor and most of the renal tumors were positive, suggesting the consideration of angiomyolipomas in the differential diagnosis of FAPI-avid renal or extrarenal retroperitoneal lesions.
CLINICAL NUCLEAR MEDICINE
(2023)
Review
Medicine, General & Internal
Mitchell Hunter-Dickson, Patrick Wu, Akshay Athavale, Amanda Ying Wang
Summary: A case of misdiagnosed tuberous sclerosis complex (TSC) is reported in a patient without TSC gene variant but with bilateral renal angiomyolipomas and seizures, along with a strong family history of polycystic kidney disease. Clinical diagnosis of TSC was made, and treatment with everolimus reduced the size of renal angiomyolipomas. This case report discusses the association between TSC and polycystic kidney disease, as well as a novel treatment for TSC.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Genetics & Heredity
Kaili Yin, Nan Lin, Qiang Lu, Liri Jin, Yan Huang, Xiangqin Zhou, Kaifeng Xu, Qing Liu, Xue Zhang
Summary: This study reports the clinical and molecular characteristics of 18 families with TSC. Through high-throughput DNA sequencing, 17 mutations were identified, with TSC-2 mutations being more common. Facial angiofibromas and epilepsy were the most prevalent clinical features. Treatment with anti-seizure medication or in combination with rapamycin showed clinical remission in most patients. Additionally, a correlation between TSC-1/TSC-2 mutations and age of onset and response to medication was observed.
Review
Pathology
Sounak Gupta, Melissa L. Stanton, Jordan P. Reynolds, Rumeal D. Whaley, Loren Herrera-Hernandez, Rafael E. Jimenez, John C. Cheville
Summary: Renal manifestations in patients with tuberous sclerosis complex (TSC) include cysts, angiomyolipoma, and renal cell carcinoma. Understanding histopathologic findings in TSC patients is crucial for diagnosis and prognostication.
Article
Genetics & Heredity
Nianyi Zhang, Xiaofang Wang, Zengqi Tang, Xiaonan Qiu, Zhixuan Guo, Danqi Huang, Hui Xiong, Qing Guo
Summary: This study found that female TSC patients are more likely to develop renal angiomyolipoma than male patients; missense mutation of TSC1 leads to a higher risk of renal angiomyolipoma, whereas frameshift mutation shows a reduced risk; patients with TSC2 mutations in the transcription activation domain 1 coding genes have an increased risk of renal angiomyolipoma.
FRONTIERS IN GENETICS
(2021)
Review
Biochemistry & Molecular Biology
Ekaterina Bychkova, Marina Dorofeeva, Aleksandr Levov, Alexey Kislyakov, Kristina Karandasheva, Vladimir Strelnikov, Kirill Anoshkin
Summary: Patients with tuberous sclerosis complex display cognitive, behavioral, and psychiatric impairments linked to cortical tubers. These tubers are caused by mutations in TSC1 or TSC2 genes, resulting in overactivation of the mTOR pathway. However, the formation of cortical tubers may involve more complex molecular mechanisms that require further investigation.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)
Article
Genetics & Heredity
Cong Luo, Ye Zhang, Yu-shi Zhang, Ming-Xin Zhang, Jun Ning, Min-Feng Chen, Yuan Li, Lin Qi, Xiong-Bing Zu, Yang-Le Li, Yi Cai
Summary: This study examines the relationship between genotype and renal phenotype in a Chinese cohort with Tuberous Sclerosis Complex (TSC) and provides guidance for clinical decision-making. The results showed that patients with TSC2 variants are more likely to develop severe renal angiomyolipomas (AML) and require nephrectomy/partial nephrectomy or mTOR medication.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Oncology
Wenda Wang, Gang Guo, Guohai Shi, Xin Wei, Zhiquan Hu, Hanzhong Li, Xu Zhang, Dingwei Ye, Yushi Zhang
Summary: This study evaluated the safety and efficacy of everolimus in Chinese patients with TSC-AML. The results showed that everolimus treatment was associated with a significant reduction in tumor volume and was generally well tolerated. This study further supports the use of everolimus as an effective treatment option for TSC-AML patients.
FRONTIERS IN ONCOLOGY
(2022)