References
- Gomez MR. Definition and criteria for diagnosis. In: Gomez MR, editor. Tuberous Sclerosis Complex. 3rd ed. New York, Oxford: Oxford University Press, 1999; 10–23.
- O'Callaghan FJ, Shiell AW, Osborne JP, Martyn CN. Prevalence of tuberous sclerosis estimated by capture-recapture analysis. Lancet 1998; 352: 318–9.
- Van Slegtenhorst M, deHoogt R, Hermans C, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 77: 805–8.
- Plank TL, Logginidou H, Klein-Szanto A, Henske EP. The expression of hamartin, the product of the TSC1 gene, in normal human tissues and in TSC1- and TSC2- linked angiomyolipomas. Mod Pathol 1999; 12: 539–45.
- European Chromosome 16 Tuberous Sclerosis Consortium. The identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 1993; 75: 1305–15.
- Nellist M, van Slegtenhorst MA, Goedbloed M, et al. Characteriza-tion of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin. J Biol Chem 1999; 274: 35647–52.
- Plank TL, Yeung RS, Henske EP. Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res 1998; 58: 4766–70.
- Lamb RF, Roy C, Diefenbach Ti, et al. The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho. Nat Cell Biol 2000; 2: 281–7.
- Krymskaya VP. Tumor suppressors hamartin and tuberin: intra cellular signalling. Cellular Signalling 2003; 15: 729–39.
- Jones AC, Shyamsundar MM, Thomas MW, et al. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 1999; 64: 1305–15.
- Kwiatkowska J, Jozwiak S, Hall F, et al. Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance. Ann Hum Genet 1998; 62: 277–85.
- Kobayashi T, Minowa O, Kuno J, et al. Renal carcinogenesis, hepatic hemangiomatosis, and embryonic lethality caused by a germ-line TSC2 mutation in mice. Cancer Res 1999; 59: 1206–11.
- Dabora SL, Jozwiak S, Franz DN, et al. Mutational analysis in a cohort of 224 tuberous sclerosis patient indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 2001; 68: 64–80.
- Longa L, Scolari F, Brusco A, et al. A large TSC2 and PDK1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant 1997; 12: 1900–7.
- Kandt RS, Haines JL, Smith M, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992; 2: 37–41.
- Brook-Carter PT, Peral B, Ward CJ, et al. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease-a contiguous gene syndrome. Nat Genet 1994; 8: 328–32.
- Sampson JR, Maheshwar MM, Aspinwall R, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61: 843–51.
- Bonetti F, Chiodera PL. The lung in tuberous sclerosis. In: Corrin B, editor. Pathology of the lung tumors. London: Churchill Livingstone, 1997; 225–39.
- Cook JA, Oliver K, Mueller RF, et al. A cross sectional study of renal involvement in tuberous sclerosis. J Med Genet 1996; 33: 480–4.
- Eble JN. Angiomyolipoma of kidney. Semin Diagn Pathol1998; 15:21–40.
- Pea M, Bonetti F, Martignoni G, et al. Apparent renal cell carcinomas in tuberous sclerosis are heterogeneous: the identification of malignant epithelioid angiomyolipoma. Am J Surg Pathol 1998; 22: 180–7.
- Martignoni G, Pea M, Bonetti F, et al. Oncocytoma-like angiomyo-lipoma. A clinicopathologic and immunohistochemical study of 2 cases. Arch Pathol Lab Med 2002; 126: 610–2.
- Kilicaslan I, Gulluoglu MG, Dogan O, Uysal V. Intraglomerular microlesions in renal angiomyolipoma. Hum Pathol 2000; 31: 1325–8.
- Martignoni G, Bonetti F, Pea M, et al. Renal disease in adults with TSC2/PKD/contiguous gene syndrome. Am J Surg Pathol 2002; 26: 198–205.
- Matsui K, Tatsuguchi A, Valencia J, et al. Extrapulmonary lymphangioleiomyomatosis (LAM): clinicopathologic features in 22 cases. Hum Pathol 2000; 31: 1242–8.
- Duffy K, Al-Saleem T, Karbowniczek M, et al. Mutational analysis of the von Hippel-Lindau Gene in clear cell renal cell carcinomas from tuberous sclerosis complex patients. Mod Pathol 2002; 15: 205–10.
- Jimenez RE, Eble JN, Reuter VE, et al. Concurrent angiomyolipoma and renal cell neoplasia: a study of 36 cases. Mod Pathol 2001; 3: 157–63.
- O'Hagan A, Ellsworth R, Secic M, Rothner AD, Brouhard HD. Renal manifestations of tuberous sclerosis complex. Clin Pediatr 1996; 35: 483–9.
- Clarke A, Hancock E, Kingswood C, Osborne JP. End-stage renal failure in adults with the tuberous sclerosis complex. Nephrol Dial Transplant 1999; 14: 988–91.
- Bonetti F, Pea M, Martignoni G, et al. The perivascular epithelioid cell and related lesions. Adv Anat Pathol 1997; 4: 343–58.
- Zamboni G, Pea M, Martignoni G, et al. Clear cell ('sugar') tumor of the pancreas. A novel member of the family of lesions characterized by the presence of perivascular epithelioid cells. Am J Surg Pathol 1996; 20: 722–30.
- Bonetti F, Pea M, Martignoni G, et al. Clear cell ('sugar') tumor of the lung is a lesion strictly related to angiomyolipoma. The concept of a family of lesions characterized by the presence of the perivascular epithelioid cell (PEC). Pathology 1994; 26: 230–6.
- Bonetti F, Chiodera P, Pea M, et al. Transbronchial biopsy in lymphangiomyomatosis of the lung. HMB-45 for diagnosis. Am J Surg Pathol 1993; 17: 1092–102.
- Folpe AL, Goodman ZD, Ishak KG, et al. Clear cell myomelanocytic tumor of the falciform ligament/ligamentum teres: a novel member of the perivascular epithelioid clear cell family of tumors with a predilection for children and young adults. Am J Surg Pathol 2000; 24: 1239–46.
- Yang R, Kempson RL. Perivascular epithelioid cell tumor ('PEComa') of the uterus: a subset of HMB-45-positive epithelioid mesenchymal neoplasms with uncertain relationship to pure smooth muscle tumors. Am J Surg Pathol 2002; 26: 1–13.
- Insabato L, De Rosa G, Terraciano LM, et al. Primary monotypic epithelioid angiomyolipoma of bone. Histopathology 2002; 40: 286–90.
- Govender D, Sabaratnam RM, Essa AS. Clear cell 'sugar' tumor of the breast: another extrapulmonary site and review of the literature. Am J Surg Pathol 2002; 26: 670–5.
- Pan CC, Yu IT, Yang AH, Chiang H. Clear cell myomelanocytic tumor of the urinary bladder. Am J Surg Pathol 2003; 27: 689–92.
- Fuji Y, Ajima J, Oka K, et al. Benign renal tumors detected among healthy adults by abdominal ultrasonography. Eur Urol 1995; 27: 124–7.
- Kennelly MJ, Grossman HB, Cho U. Outcome analysis of 42 cases of renal angiomyolipoma. J Urol 1994; 152: 1988–91.
- Mukai M, Torikata C, In H, et al. Crystalloids in angiomyolipoma: I. A previously unnoticed phenomenon of renal angiomyolipoma occuring at a high frequency. Am J Surg Pathol 1992; 16: 1–10.
- Tong YC, Chieng PU, Tsai TC, et al. Renal angiomyolipoma: Report of 24 cases. Br J Urol 1990; 66: 585–9.
- Steiner MS, Goldman SM, Fishman EK, et al. The natural history of renal angiomyolipoma. J Urol 1993; 150: 1782–6.
- Green Ai, Sepp T, Yates JRW. Clonality of tuberous sclerosis hamartoma shown by non-random X chromosome inactivation. Hum Genet 1996; 97: 240–3.
- Kattar MM, Grignon DJ, Eble JN, et al. Chromosomal analysis of renal angiomyolipoma by comparative genomic hybridization: evi-dence for clonal origin. Hum Pathol 1999; 30: 295–9.
- Bonzanini M, Pea M, Martignoni G, et al. Preoperative diagnosis of renal angiomyolipoma: fine needle aspiration cytology and immuno-cytochemical characterization. Pathology 1994; 26: 170–5.
- Tallarigo C, Baldassarre R, Bianchi G, et al. Diagnostic and therapeutic problems in multicentric renal angiomyolipoma. J Urol 1992; 148: 1880–4.
- Abdulla M, Bui HX, del Rosario AD, et al. Renal angiomyolipoma. DNA content and immunohistochemical study of classic and multi-centric variants. Arch Pathol Lab Med 1994; 118: 735–9.
- Ferry JA, Malt RA, Young RH. Renal angiomyolipoma with sarcomatous transformation and pulmonary metastases. Am J Surg Pathol 1991; 15: 1083–8.
- Martignoni G, Pea M, Rigaud G, et al. Renal angiomyolipoma with epithelioid sarcomatous transformation and metastases. Am J Surg Pathol 2000; 24: 889–94.
- Cibas ES, Goss GA, Kulke MH, et al. Malignant epithelioid angiomyolipoma ('sarcoma ex angiomyolipoma') of the kidney. A case report and review of the literature. Am J Surg Pathol 2001; 25: 121–6.
- Pea M, Bonetti F, Zamboni G, et al. Melanocyte marker-HMB-45 is regularly expressed in angiomyolipoma of the kidney. Pathology 1991; 23: 185–8.
- Ashfaq R, Weinberg AG, Albores-Saavedra J. Renal angiomyolipo-mas and HMB-45 reactivity. Cancer 1993; 71: 3091–7.
- L'Hostis H, Deminiere C, Ferriere JM, Coindre JM. Renal angiomyolipoma: a clinicopathologic, immunohistochemical, and follow-up study of 46 cases. Am J Surg Pathol 1999; 23: 1011–20.
- Fetsch PA, Fetsch JF, Marincola FM, et al. Comparison of melanoma antigen recognized by T cells (MART-1) to HMB-45: additional evidence to support a common lineage for angiomyoli-poma, lymphangiomyomatosis, and clear cell sugar tumor. Mod Pathol 1998; 11: 699–703.
- Jungbluth AA, Busam KJ, Gerald WL, et al. A103: an anti-melan-a monoclonal antibody for the detection of malignant melanoma in paraffin-embedded tissues. Am J Surg Pathol 1998; 22: 595–602.
- Kaiserling E, Krober S, Xiao JC, Schaumburg-Lever G. Angiomyo-lipoma of the kidney. Immunoreactivity with HMB-45. Light- and electron-microscopic findings. Histopathology 1994; 25: 41–8.
- Zavala-Pompa A, Folpe A, Jimenez R, et al. Immunohistochemical study of microphthalmia transcription factor and tyrosinase in angiomyolipoma of the kidney, renal cell carcinoma, and renal and retroperitoneal sarcomas: comparative evaluation with traditional diagnostic markers. Am J Surg Pathol 2001; 25: 65–70.
- Stone CH, Lee MW, Amin MB, et al. Renal angiomyolipoma: further immunophenotypic characterization of an expanding morphologic spectrum. Arch Pathol Lab Med 2001; 125: 751–8.
- Holm-Nielsen P, Sorensen FB. Renal angiomyolipoma: an ultra-structural investigation of three cases with histogenetic considerations. APMIS 1988; 4 (suppl): 37–47.
- Weeks DA, Malott RL, Arnesen M, et al. Hepatic angiomyolipoma with striated granules and positivity with melanoma-specific antibody (HMB-45): A report of two cases. Ultrastruct Pathol 1991; 15: 563–71.
- Carbonara C, Longa L, Grosso E, et al. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal region in tuberous sclerosis hamartomas. Genes Chrom Cancer 1996; 15: 18–25.
- Henske EP, Neumann HPH, Scheithauer BW, et al. Loss of heterozygosity in the tuberous sclerosis (TSC2) region of chromosome band 16p13 occurs in sporadic as well as TSC-associated renal angiomyolipoma. Genes Chrom Cancer 1995; 13: 295–8.
- Oesterling JE, Fishman EK, Goldman SM, Marshall FF. The management of renal angiomyolipoma. J Urol 1986; 135: 1121–4.
- Chowdhury PR, Tsuda N, Anami M, et al. A histopathologic and immunohistochemical study of small nodules of renal angiomyoli-poma: A comparison of small nodules with angiomyolipoma. Mod Pathol 1996; 9: 1071–88.
- Nagashima Y, Ohaki Y, Tanaka Y, et al. A case of renal angiomyolipomas associated with multiple and various hamartoma-tous microlesions. Virchows Archiv A Pathol Anat 1988; 413: 177–82.
- Martignoni G, Pea M, Bonetti F, et al. Renal epithelioid oxyphilic neoplasms (REON). A pleomorphic monophasic variant of renal angiomyolipoma. (Abstract). Int J Surg Pathol 1995; 2 (suppl): 539.
- Mai KT, Perkins DG, Collins JP. Epithelioid variant of renal angiomyolipoma. Histopathology 1996; 28: 277–80.
- Eble JN, Amin MB, Young RH. Epithelioid angiomyolipoma of the kidney: a report of five cases with a prominent and diagnostically confusing epithelioid smooth muscle component. Am J Surg Pathol 1997; 21: 1123–30.
- Martignoni G, Pea M, Bonetti F, et al. Carcinoma-like monotypic epithelioid angiomyolipoma in patients without evidence of tuberous sclerosis: a clinicopathologic and genetic study. Am J Surg Pathol 1998; 22: 663–72.
- Leroy X, Moukassa D, Gosselin B. Renal epithelioid angiomyoli-poma. A clinicopathological and immunohistochemical study of three cases. J Urol Pathol 1999; 11: 59–67.
- Bjornsson J, Short MP, Kwiatkowski DJ, Henske EP. Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features. Am J Pathol 1996; 149: 1201–8.
- Srinivas V, Herr HV, Hajdu EO. Partial nephrectomy for a renal oncocytoma associated with tuberous sclerosis. J Urol 1985; 133: 263–5.
- Johnson SR, Tattersfield AE. Lymphangioleiomyomatosis. Semin Respir Crit Care Med 2002; 23: 85–92.
- Aubry MC, Myers JL, Ryu JH, et al. Pulmonary lymphangioleio-myomatosis in a man. Am J Respir Crit Care Med 2000; 162: 749–52.
- Yu J, Astrinidis A, Henske EP. Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. Am J Respir Crit Care Med 2001; 164: 1537–40.
- Shepherd CW, Gomez MR, Lie JT. Causes of death in patients with tuberous sclerosis. Mayo Clin Proc 1991; 66: 792–6.
- Bernstein J. Renal cystic disease in the tuberous sclerosis complex. Pediatr Nephrol 1993; 7: 490–5.
- Bonsib SM. Non-neoplastic diseases of the kidney. In: Bostwick DG, Eble JN, editors. Urologic Surgical Pathology. St Louis, Missouri:81. Senger C. Infant girl with unilateral nephromegaly. Arch Pathol Lab Mosby, 1997; 83-147.Med 2000; 124: 327–9.
- Miller ID, Gray ES, Lloyd DL. Unilateral cystic disease of82. Tello R, Blickman JG, Buonomo C, Herrin J. Meta-analysis of the the neonatal kidney: a rare presentation of tuberous sclerosis,relationship between tuberous sclerosis complex and renal cell Histopathology 1989; 14: 529-32.carcinoma. Eur J Radiol 1998; 27: 131–8.
- Senger C. Infant girl with unilateral nephromegaly. Arch Pathol Lab Med 2000; 124: 327�9.
- Tello R, Blickman JG, Buonomo C, Herrin J. Meta-analysis of the relationship between tuberous sclerosis complex and renal cell carcinoma. Eur J Radiol 1998; 27: 131�8.