Browsing by Subject "Tuberous sclerosis"

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    Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer
    (Wolters Kluwer, 2020-07) Williamson, Sean R.; Gill, Anthony J.; Argani, Pedram; Chen, Ying-Bei; Egevad, Lars; Kristiansen, Glen; Grignon, David J.; Hes, Ondrej; Pathology and Laboratory Medicine, School of Medicine
    Renal cell carcinoma (RCC) subtypes are increasingly being discerned via their molecular underpinnings. Frequently this can be correlated to histologic and immunohistochemical surrogates, such that only simple targeted molecular assays, or none at all, are needed for diagnostic confirmation. In clear cell RCC, VHL mutation and 3p loss are well known; however, other genes with emerging important roles include SETD2, BAP1, and PBRM1, among others. Papillary RCC type 2 is now known to include likely several different molecular entities, such as fumarate hydratase (FH) deficient RCC. In MIT family translocation RCC, an increasing number of gene fusions are now described. Some TFE3 fusion partners, such as NONO, GRIPAP1, RBMX, and RBM10 may show a deceptive FISH result due to the proximity of the genes on the same chromosome. FH and succinate dehydrogenase (SDH) deficient RCC have implications for patient counseling due to heritable syndromes and the aggressiveness of FH-deficient RCC. Immunohistochemistry is increasingly available and helpful for recognizing both. Emerging tumor types with strong evidence for distinct diagnostic entities include eosinophilic solid and cystic RCC and TFEB / VEGFA / 6p21 amplified RCC. Other emerging entities that are less clearly understood include TCEB1 mutated RCC, RCC with ALK rearrangement, renal neoplasms with mutations of TSC2 or MTOR, and RCC with fibromuscular stroma. In metastatic RCC, the role of molecular studies is not entirely defined at present, although there may be an increasing role for genomic analysis related to specific therapy pathways, such as for tyrosine kinase or MTOR inhibitors.
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    Thrombus simulating flow void: a pitfall in diagnosing aqueductal patency by high-field MR imaging
    (American Society of Neuroradiology, 1987) Augustyn, Gary T.; D'Amour, Peter G.; Scott, John A.; Worth, Robert M.; Radiology and Imaging Sciences, School of Medicine
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    Tuberous Sclerosis-associated enamel pitting and gingival fibromas: Familial vs. sporadic disease; genotype-phenotype correlations
    (2000) Dock, Murray; Dean, Jeffrey A.; Sanders, Brian J.; Zunt, Susan L., 1951-; Franz, David N.; Schorry, Elizabeth K.; Avery, David R.
    The purpose of this investigation was to study the incidence of enamel pitting and gingival fibromas in patients with tuberous sclerosis complex (TSC) and relate these findings to other physical findings of TSC, to sporadic and familial disease, and to specific TSC2 mutations. Methods: A total of 104 patients between 1 and 51 years of age were examined for enamel pits and gingival fibromas. All study subjects had a definitive diagnosis of TSC and were participants in a related study that provided results from MRI scans of the brain, echocardiography, renal ultrasound, neuropsychological assessments, and retinal examinations. Blood samples were obtained from each participant for DNA extraction and subsequent TSC mutational analysis. Results: Enamel pitting was seen in 29% of patients between 1 and 6 years of age, in 90% between 6 and 13 years of age, and in 100% of patients in the permanent 113 dentition. The majority of the pits were pinpoint sized and primarily affected the maxillary anterior arch. The maxillary central incisor was the most often affected permanent tooth and the maxillary canine was the most often affected primary tooth. Gingival fibromas were apparent in 47% of subjects in the mixed dentition and in 70% of subjects in the permanent dentition. Only one patient out of 31 in the primary dentition had a gingival fibroma. The majority of fibromas affected the interdental papilla of the maxillary anterior arch. There were few significant findings relating the degree and/or severity of enamel pitting and/or gingival fibromas to other physical findings of TSC. Enamel pitting in primary as well as permanent teeth were found to be strongly related to the presence of facial angiofibromas and a somewhat weaker association was seen with cardiac arrhythmias. Gingival fibromas were strongly related to the presence of facial angiofibromas and more weakly related to retinal lesions. There were no distinctions apparent between oral findings in sporadic and familial TSC nor were there any genotype-phenotype correlations between oral findings and TSC2 mutations. Conclusion: The combination of enamel pitting and gingival fibromas, as minor features of TSC, should raise the suspicion level regarding tuberous sclerosis as a diagnosis. Both are important minor features frequently seen which may help in establishing a definitive diagnosis. Scanning the dentition and gingiva is noninvasive, is inexpensive, and should be included in evaluating all patients suspect of a diagnosis of tuberous sclerosis.