Terms: = Kidney tumors AND TSC1, KIAA0243, 7248, ENSG00000165699, TSC, MGC86987, LAM, hamartin AND Diagnosis
127 results:
1. A case of pancreatic PEComa with prominent inflammatory cell infiltration: the inflammatory subtype is a distinct histologic group of PEComa.
Tsukita H; Koyama K; Ishinari T; Takahashi A; Miyabe K; Umakoshi M; Yoshida M; Kudo-Asabe Y; Nishida A; Otsuka N; Yasui O; Kato I; Fukushima N; Goto A
Diagn Pathol; 2024 Apr; 19(1):59. PubMed ID: 38622713
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2. Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit.
Johnson J; Somerfield W; Johnson SR
Orphanet J Rare Dis; 2024 Mar; 19(1):137. PubMed ID: 38532450
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3. The effect of pregnancy on renal angiomyolipoma; a world of knowledge to gain, specifically in women with tsc.
Kluiving MW; Peeters EFHI; Lely TA; van Oorschot N; de Ranitz-Greven WL
BMC Nephrol; 2024 Mar; 25(1):113. PubMed ID: 38519911
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4. Epithelioid angiomyolipoma of the liver in a patient with Li-Fraumeni syndrome: a case report.
Yang Y; Lee J; Woo CG; Lee OJ; Son SM
Diagn Pathol; 2024 Jan; 19(1):16. PubMed ID: 38243242
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5. Pathology of hereditary renal cell carcinoma syndromes: Tuberous sclerosis complex (tsc).
Machacek ME; Wu CL; Cornejo KM
Semin Diagn Pathol; 2024 Jan; 41(1):8-19. PubMed ID: 37993384
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6. [Genetic diffuse cystic lung disease in adults].
Diesler R; Ahmad K; Chalabreysse L; Glérant JC; Harzallah I; Touraine R; Si-Mohamed S; Cottin V
Rev Mal Respir; 2024 Jan; 41(1):69-88. PubMed ID: 37951745
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7. Identification of a Novel tsc2 c.170G>A Missense Variant: A Case Report and Elaboration on the Yield of Targeted Options against Tuberous Sclerosis Complex Manifestations.
Papageorgiou G; Skouteris N; Valavanis C; Stanc GM; Souka E; Charalampakis N
Rev Recent Clin Trials; 2023; 18(4):304-312. PubMed ID: 37877150
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8. Evaluation of an institutional series of low-grade oncocytic tumor (LOT) of the kidney and review of the mutational landscape of LOT.
Ricci C; Ambrosi F; Franceschini T; Giunchi F; Grillini A; Franchini E; Grillini M; Schiavina R; Massari F; Mollica V; Tateo V; Bianchi FM; Bianchi L; Droghetti M; Maloberti T; Tallini G; Colecchia M; Acosta AM; Lobo J; Trpkov K; Fiorentino M; de Biase D
Virchows Arch; 2023 Nov; 483(5):687-698. PubMed ID: 37845471
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9. [Expert consensus on the diagnosis and management of Birt-Hogg-Dubé syndrome].
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Zhonghua Jie He He Hu Xi Za Zhi; 2023 Sep; 46(9):897-908. PubMed ID: 37670643
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10. Concordance of MTOR Pathway Mutations and the diagnosis of Renal Low-Grade Oncocytic Tumor (LOT).
Siegmund SE; Al-Obaidy KI; Tsai HK; Idrees MT; Akgul M; Acosta AM; Hirsch MS
Int J Surg Pathol; 2024 Apr; 32(2):316-330. PubMed ID: 37357748
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11. Tuberous sclerosis complex mutations in patients with pancreatic neuroendocrine tumors. Observations on phenotypic and treatment-related associations.
Navale P; Chatterjee D; Itani M; Trikalinos NA
Virchows Arch; 2023 Aug; 483(2):167-175. PubMed ID: 37354253
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12. Reprint of: lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas & renal cell carcinoma.
Gupta S; Stanton ML; Reynolds JP; Whaley RD; Herrera-Hernandez L; Jimenez RE; Cheville JC
Hum Pathol; 2023 Mar; 133():136-152. PubMed ID: 36894367
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13.
Zhang KJ; Qu Z; Pszenica E; Hafron JM; Zhang PL; Brown RE
Ann Clin Lab Sci; 2023 Jan; 53(1):3-13. PubMed ID: 36889765
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14. Clinical features and outcomes of male patients with lymphangioleiomyomatosis: A review.
Zhang H; Hu Z; Wang S; Wu K; Yang Q; Song X
Medicine (Baltimore); 2022 Dec; 101(52):e32492. PubMed ID: 36596036
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15. tsc/MTOR mutated renal cell carcinoma with leiomyomatous stroma is a distinct entity: a comprehensive study of 12 cases.
Tjota MY; Sharma A; Wanjari P; Fitzpatrick C; Segal J; Antic T
Hum Pathol; 2023 Apr; 134():124-133. PubMed ID: 36592877
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16. Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up.
Touraine R; Hauet Q; Harzallah I; Baruteau AE
Arch Pediatr; 2022 Dec; 29(5S):5S3-5S7. PubMed ID: 36585068
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17. LOT and HOT … or not. The proliferation of clinically insignificant and poorly characterised types of renal neoplasia.
Samaratunga H; Egevad L; Thunders M; Iczskowski KA; van der Kwast T; Kristiansen G; Pan CC; Leite KRM; Evans A; Clouston D; Kenwright DN; Bethwaite PB; Malone G; Wood S; Yaxley JW; Delahunt B
Pathology; 2022 Dec; 54(7):842-847. PubMed ID: 36270849
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18. Lessons from histopathologic examination of nephrectomy specimens in patients with tuberous sclerosis complex: cysts, angiomyolipomas, and renal cell carcinoma.
Gupta S; Stanton ML; Reynolds JP; Whaley RD; Herrera-Hernandez L; Jimenez RE; Cheville JC
Hum Pathol; 2022 Nov; 129():123-139. PubMed ID: 36115585
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19. tsc/MTOR -associated Eosinophilic Renal tumors Exhibit a Heterogeneous Clinicopathologic Spectrum : A Targeted Next-generation Sequencing and Gene Expression Profiling Study.
Xia QY; Wang XT; Zhao M; He HY; Fang R; Ye SB; Li R; Wang X; Zhang RS; Lu ZF; Ma HH; Wang ZY; Rao Q
Am J Surg Pathol; 2022 Nov; 46(11):1562-1576. PubMed ID: 35980750
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20. Parapelvic Cysts: An Imaging Marker of kidney Disease Potentially Leading to the diagnosis of Treatable Rare Genetic Disorders? A Narrative Review of the Literature.
Capuano I; Buonanno P; Riccio E; Crocetto F; Pisani A
J Nephrol; 2022 Nov; 35(8):2035-2046. PubMed ID: 35749008
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