메뉴 건너뛰기




Volumn 24, Issue 3, 2010, Pages 439-449

Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes

Author keywords

Cowden; mammalian target of rapamycin; neuroendocrine tumours; Peutz Jegher; phakomatoses; tumour suppressor

Indexed keywords

BEVACIZUMAB; ERLOTINIB; EVEROLIMUS; MAMMALIAN TARGET OF RAPAMYCIN; MAMMALIAN TARGET OF RAPAMYCIN INHIBITOR; NEUROFIBROMIN; OCTREOTIDE; PASIREOTIDE; PROTEIN FARNESYLTRANSFERASE INHIBITOR; RAPAMYCIN; SORAFENIB; TEMOZOLOMIDE; TEMSIROLIMUS; TIPIFARNIB;

EID: 77956604638     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.beem.2010.02.002     Document Type: Review
Times cited : (63)

References (86)
  • 2
    • 0023885121 scopus 로고
    • Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference
    • Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference Archives of Neurology 45 5 1988 May 575 578
    • (1988) Archives of Neurology , vol.45 , Issue.5 , pp. 575-578
  • 3
    • 0034094731 scopus 로고    scopus 로고
    • Use of the National Institutes of Health criteria for diagnosis of neurofibromatosis 1 in children
    • K. DeBella, J. Szudek, and J.M. Friedman Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children Pediatrics 105 3 Pt 1 2000 Mar 608 614 (Pubitemid 30129679)
    • (2000) Pediatrics , vol.105 , Issue.3 , pp. 608-614
    • DeBella, K.1    Szudek, J.2    Friedman, J.M.3
  • 4
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • D.H. Gutmann, A. Aylsworth, and J.C. Carey The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 The Journal of the American Medical Association 278 1 1997 Jul 2 51 57
    • (1997) The Journal of the American Medical Association , vol.278 , Issue.1 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 5
    • 0022599645 scopus 로고
    • Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms
    • S.A. Sorensen, J.J. Mulvihill, and A. Nielsen Long-term follow-up of von Recklinghausen neurofibromatosis. Survival and malignant neoplasms The New England Journal of Medicine 314 16 1986 Apr 17 1010 1015
    • (1986) The New England Journal of Medicine , vol.314 , Issue.16 , pp. 1010-1015
    • Sorensen, S.A.1    Mulvihill, J.J.2    Nielsen, A.3
  • 7
    • 4344642758 scopus 로고    scopus 로고
    • Hereditary pancreatic endocrine tumours
    • N. Alexakis, S. Connor, and P. Ghaneh Hereditary pancreatic endocrine tumours Pancreatology 4 5 2004 417 433 discussion 34-5
    • (2004) Pancreatology , vol.4 , Issue.5 , pp. 417-433
    • Alexakis, N.1    Connor, S.2    Ghaneh, P.3
  • 8
    • 33644752349 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors in patients with neurofibromatosis 1: A clinicopathologic and molecular genetic study of 45 cases
    • M. Miettinen, J.F. Fetsch, and L.H. Sobin Gastrointestinal stromal tumors in patients with neurofibromatosis 1: a clinicopathologic and molecular genetic study of 45 cases The American Journal of Surgical Pathology 30 1 2006 Jan 90 96
    • (2006) The American Journal of Surgical Pathology , vol.30 , Issue.1 , pp. 90-96
    • Miettinen, M.1    Fetsch, J.F.2    Sobin, L.H.3
  • 9
    • 0030960182 scopus 로고    scopus 로고
    • Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population
    • M.E. Zoller, B. Rembeck, and A. Oden Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population Cancer 79 11 1997 Jun 1 2125 2131
    • (1997) Cancer , vol.79 , Issue.11 , pp. 2125-2131
    • Zoller, M.E.1    Rembeck, B.2    Oden, A.3
  • 10
    • 51649112019 scopus 로고    scopus 로고
    • Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1
    • C. Mussi, H.U. Schildhaus, and A. Gronchi Therapeutic consequences from molecular biology for gastrointestinal stromal tumor patients affected by neurofibromatosis type 1 Clinical Cancer Research 14 14 2008 Jul 15 4550 4555
    • (2008) Clinical Cancer Research , vol.14 , Issue.14 , pp. 4550-4555
    • Mussi, C.1    Schildhaus, H.U.2    Gronchi, A.3
  • 11
    • 34249053815 scopus 로고    scopus 로고
    • Pheochromocytoma as a catecholamine producing tumor: Implications for clinical practice
    • T. Zelinka, G. Eisenhofer, and K. Pacak Pheochromocytoma as a catecholamine producing tumor: implications for clinical practice Stress 10 2 2007 Jun 195 203
    • (2007) Stress , vol.10 , Issue.2 , pp. 195-203
    • Zelinka, T.1    Eisenhofer, G.2    Pacak, K.3
  • 12
    • 40949124363 scopus 로고    scopus 로고
    • Molecular genetics of gastroenteropancreatic neuroendocrine tumors
    • C.G. Toumpanakis, and M.E. Caplin Molecular genetics of gastroenteropancreatic neuroendocrine tumors The American Journal of Gastroenterology 103 3 2008 Mar 729 732
    • (2008) The American Journal of Gastroenterology , vol.103 , Issue.3 , pp. 729-732
    • Toumpanakis, C.G.1    Caplin, M.E.2
  • 13
    • 0032825694 scopus 로고    scopus 로고
    • Von Recklinghausen's disease and pheochromocytomas
    • M.M. Walther, J. Herring, and E. Enquist von Recklinghausen's disease and pheochromocytomas The Journal of Urology 162 5 1999 Nov 1582 1586
    • (1999) The Journal of Urology , vol.162 , Issue.5 , pp. 1582-1586
    • Walther, M.M.1    Herring, J.2    Enquist, E.3
  • 14
    • 0022469619 scopus 로고
    • Duodenal carcinoids in patients with and without neurofibromatosis. A comparative study
    • Y. Dayal, K.A. Tallberg, and G. Nunnemacher Duodenal carcinoids in patients with and without neurofibromatosis. A comparative study The American Journal of Surgical Pathology 10 5 1986 May 348 357
    • (1986) The American Journal of Surgical Pathology , vol.10 , Issue.5 , pp. 348-357
    • Dayal, Y.1    Tallberg, K.A.2    Nunnemacher, G.3
  • 15
    • 0029054126 scopus 로고
    • Von Recklinghausen's disease associated with duodenal somatostatinoma: Contrast of duodenal versus pancreatic somatostatinomas
    • C. Mao, A. Shah, and D.J. Hanson Von Recklinghausen's disease associated with duodenal somatostatinoma: contrast of duodenal versus pancreatic somatostatinomas Journal of Surgical Oncology 59 1 1995 May 67 73
    • (1995) Journal of Surgical Oncology , vol.59 , Issue.1 , pp. 67-73
    • Mao, C.1    Shah, A.2    Hanson, D.J.3
  • 16
    • 34548018958 scopus 로고    scopus 로고
    • Hereditary neuroendocrine tumors of the gastroenteropancreatic system
    • M. Anlauf, N. Garbrecht, and J. Bauersfeld Hereditary neuroendocrine tumors of the gastroenteropancreatic system Virchows Archiv 451 Suppl. 1 2007 Aug S29 S38
    • (2007) Virchows Archiv , vol.451 , Issue.SUPPL. 1
    • Anlauf, M.1    Garbrecht, N.2    Bauersfeld, J.3
  • 17
    • 53949094574 scopus 로고    scopus 로고
    • Inherited pancreatic endocrine tumor syndromes: Advances in molecular pathogenesis, diagnosis, management, and controversies
    • R.T. Jensen, M.J. Berna, and D.B. Bingham Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies Cancer 113 7 Suppl. 2008 Oct 1 1807 1843
    • (2008) Cancer , vol.113 , Issue.7 SUPPL. , pp. 1807-1843
    • Jensen, R.T.1    Berna, M.J.2    Bingham, D.B.3
  • 18
    • 33745827380 scopus 로고    scopus 로고
    • Type I neurofibromatosis, pheochromocytoma and somatostatinoma of the ampulla. Literature review
    • R. Caiazzo, C. Mariette, and G. Piessen Type I neurofibromatosis, pheochromocytoma and somatostatinoma of the ampulla. Literature review Annales de chirurgie 131 6-7 2006 Jul-Aug 393 397
    • (2006) Annales de Chirurgie , vol.131 , Issue.67 , pp. 393-397
    • Caiazzo, R.1    Mariette, C.2    Piessen, G.3
  • 19
    • 4444296901 scopus 로고    scopus 로고
    • Von Recklinghausen's neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature
    • C. Cappelli, B. Agosti, and M. Braga Von Recklinghausen's neurofibromatosis associated with duodenal somatostatinoma. A case report and review of the literature Minerva Endocrinologica 29 1 2004 Mar 19 24
    • (2004) Minerva Endocrinologica , vol.29 , Issue.1 , pp. 19-24
    • Cappelli, C.1    Agosti, B.2    Braga, M.3
  • 20
    • 26844444151 scopus 로고    scopus 로고
    • Zollinger-Ellison syndrome associated with neurofibromatosis type 1: A case report
    • W.S. Lee, Y.S. Koh, and J.C. Kim Zollinger-Ellison syndrome associated with neurofibromatosis type 1: a case report BMC Cancer 5 2005 85
    • (2005) BMC Cancer , vol.5 , pp. 85
    • Lee, W.S.1    Koh, Y.S.2    Kim, J.C.3
  • 21
    • 0021963232 scopus 로고
    • Recklinghausen's disease with digestive localizations associated with gastric acid hypersecretion suggesting Zollinger-Ellison syndrome
    • J.P. Chagnon, J. Barge, and D. Henin Recklinghausen's disease with digestive localizations associated with gastric acid hypersecretion suggesting Zollinger-Ellison syndrome Gastroentérologie clinique et biologique 9 1 1985 Jan 65 69
    • (1985) Gastroentérologie Clinique et Biologique , vol.9 , Issue.1 , pp. 65-69
    • Chagnon, J.P.1    Barge, J.2    Henin, D.3
  • 22
    • 33747618972 scopus 로고    scopus 로고
    • Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: Molecular analysis of a malignant insulinoma in a NF-1 patient
    • A. Perren, P. Wiesli, and S. Schmid Pancreatic endocrine tumors are a rare manifestation of the neurofibromatosis type 1 phenotype: molecular analysis of a malignant insulinoma in a NF-1 patient The American Journal of Surgical Pathology 30 8 2006 Aug 1047 1051
    • (2006) The American Journal of Surgical Pathology , vol.30 , Issue.8 , pp. 1047-1051
    • Perren, A.1    Wiesli, P.2    Schmid, S.3
  • 23
    • 7144245820 scopus 로고
    • Insulinoma and Multiple Neurofibromatosis: Report of a case
    • R.L. Coskey, and R.E. Tranquada Insulinoma and Multiple Neurofibromatosis: report of a case Metabolism 13 1964 Apr 312 318
    • (1964) Metabolism , vol.13 , pp. 312-318
    • Coskey, R.L.1    Tranquada, R.E.2
  • 24
    • 0021220635 scopus 로고
    • Von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata
    • R.A. Lewis, L.P. Gerson, and K.A. Axelson von Recklinghausen neurofibromatosis. II. Incidence of optic gliomata Ophthalmology 91 8 1984 Aug 929 935
    • (1984) Ophthalmology , vol.91 , Issue.8 , pp. 929-935
    • Lewis, R.A.1    Gerson, L.P.2    Axelson, K.A.3
  • 25
    • 34147172816 scopus 로고    scopus 로고
    • Optic pathway gliomas in neurofibromatosis-1: Controversies and recommendations
    • R. Listernick, R.E. Ferner, and G.T. Liu Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations Annals of Neurology 61 3 2007 Mar 189 198
    • (2007) Annals of Neurology , vol.61 , Issue.3 , pp. 189-198
    • Listernick, R.1    Ferner, R.E.2    Liu, G.T.3
  • 26
    • 40949132576 scopus 로고    scopus 로고
    • Health supervision for children with neurofibromatosis
    • J.H. Hersh Health supervision for children with neurofibromatosis Pediatrics 121 3 2008 Mar 633 642
    • (2008) Pediatrics , vol.121 , Issue.3 , pp. 633-642
    • Hersh, J.H.1
  • 27
    • 0025326726 scopus 로고
    • A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations
    • R.M. Cawthon, R. Weiss, and G.F. Xu A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations Cell 62 1 1990 Jul 13 193 201
    • (1990) Cell , vol.62 , Issue.1 , pp. 193-201
    • Cawthon, R.M.1    Weiss, R.2    Xu, G.F.3
  • 28
    • 0025297599 scopus 로고
    • Type 1 neurofibromatosis gene: Identification of a large transcript disrupted in three NF1 patients
    • M.R. Wallace, D.A. Marchuk, and L.B. Andersen Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients Science 249 4965 1990 Jul 13 181 186
    • (1990) Science , vol.249 , Issue.4965 , pp. 181-186
    • Wallace, M.R.1    Marchuk, D.A.2    Andersen, L.B.3
  • 29
    • 0025251137 scopus 로고
    • The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21
    • G.A. Martin, D. Viskochil, and G. Bollag The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21 Cell 63 4 1990 Nov 16 843 849
    • (1990) Cell , vol.63 , Issue.4 , pp. 843-849
    • Martin, G.A.1    Viskochil, D.2    Bollag, G.3
  • 30
    • 65349086151 scopus 로고    scopus 로고
    • Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1
    • H. Brems, E. Beert, and T. de Ravel Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1 The Lancet Oncology 10 5 2009 May 508 515
    • (2009) The Lancet Oncology , vol.10 , Issue.5 , pp. 508-515
    • Brems, H.1    Beert, E.2    De Ravel, T.3
  • 31
    • 49849090082 scopus 로고    scopus 로고
    • The mTOR pathway and its role in human genetic diseases
    • M. Rosner, M. Hanneder, and N. Siegel The mTOR pathway and its role in human genetic diseases Mutation Research 659 3 2008 Sep-Oct 284 292
    • (2008) Mutation Research , vol.659 , Issue.3 , pp. 284-292
    • Rosner, M.1    Hanneder, M.2    Siegel, N.3
  • 32
    • 27744588780 scopus 로고    scopus 로고
    • Tuberous sclerosis: A GAP at the crossroads of multiple signaling pathways
    • D.J. Kwiatkowski, and B.D. Manning Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways Human Molecular Genetics 14 Spec No. 2 2005 Oct 15 R251 R258
    • (2005) Human Molecular Genetics , vol.14 , Issue.SPEC NO. 2
    • Kwiatkowski, D.J.1    Manning, B.D.2
  • 33
    • 34447119468 scopus 로고    scopus 로고
    • Mammalian target of rapamycin: Master regulator of cell growth in the nervous system
    • D.K. Sandsmark, C. Pelletier, and J.D. Weber Mammalian target of rapamycin: master regulator of cell growth in the nervous system Histology and Histopathology 22 8 2007 Aug 895 903
    • (2007) Histology and Histopathology , vol.22 , Issue.8 , pp. 895-903
    • Sandsmark, D.K.1    Pelletier, C.2    Weber, J.D.3
  • 35
    • 0025455386 scopus 로고
    • NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update
    • J.J. Mulvihill, D.M. Parry, and J.L. Sherman NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update Annals of Internal Medicine 113 1 1990 Jul 1 39 52
    • (1990) Annals of Internal Medicine , vol.113 , Issue.1 , pp. 39-52
    • Mulvihill, J.J.1    Parry, D.M.2    Sherman, J.L.3
  • 36
    • 0025369709 scopus 로고
    • Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
    • D. Viskochil, A.M. Buchberg, and G. Xu Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus Cell 62 1 1990 Jul 13 187 192
    • (1990) Cell , vol.62 , Issue.1 , pp. 187-192
    • Viskochil, D.1    Buchberg, A.M.2    Xu, G.3
  • 37
    • 33644838556 scopus 로고    scopus 로고
    • Phase i trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type i and plexiform neurofibromas
    • B.C. Widemann, W.L. Salzer, and R.J. Arceci Phase I trial and pharmacokinetic study of the farnesyltransferase inhibitor tipifarnib in children with refractory solid tumors or neurofibromatosis type I and plexiform neurofibromas Journal of Clinical Oncology 24 3 2006 Jan 20 507 516
    • (2006) Journal of Clinical Oncology , vol.24 , Issue.3 , pp. 507-516
    • Widemann, B.C.1    Salzer, W.L.2    Arceci, R.J.3
  • 39
    • 33745481867 scopus 로고    scopus 로고
    • The diverse clinical manifestations of tuberous sclerosis complex: A review
    • T. Rosser, A. Panigrahy, and W. McClintock The diverse clinical manifestations of tuberous sclerosis complex: a review Seminars in Pediatric Neurology 13 1 2006 Mar 27 36
    • (2006) Seminars in Pediatric Neurology , vol.13 , Issue.1 , pp. 27-36
    • Rosser, T.1    Panigrahy, A.2    McClintock, W.3
  • 40
    • 0032438210 scopus 로고    scopus 로고
    • Tuberous sclerosis complex consensus conference: Revised clinical diagnostic criteria
    • E.S. Roach, M.R. Gomez, and H. Northrup Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria Journal of Child Neurology 13 12 1998 Dec 624 628
    • (1998) Journal of Child Neurology , vol.13 , Issue.12 , pp. 624-628
    • Roach, E.S.1    Gomez, M.R.2    Northrup, H.3
  • 41
    • 0032989136 scopus 로고    scopus 로고
    • Tuberous Sclerosis Consensus Conference: Recommendations for diagnostic evaluation. National Tuberous Sclerosis Association
    • E.S. Roach, F.J. DiMario, and R.S. Kandt Tuberous Sclerosis Consensus Conference: recommendations for diagnostic evaluation. National Tuberous Sclerosis Association Journal of Child Neurology 14 6 1999 Jun 401 407
    • (1999) Journal of Child Neurology , vol.14 , Issue.6 , pp. 401-407
    • Roach, E.S.1    Dimario, F.J.2    Kandt, R.S.3
  • 42
    • 0025893028 scopus 로고
    • An estimate of the heritable fraction of childhood cancer
    • S.A. Narod, C. Stiller, and G.M. Lenoir An estimate of the heritable fraction of childhood cancer British Journal of Cancer 63 6 1991 Jun 993 999
    • (1991) British Journal of Cancer , vol.63 , Issue.6 , pp. 993-999
    • Narod, S.A.1    Stiller, C.2    Lenoir, G.M.3
  • 43
    • 65549145022 scopus 로고    scopus 로고
    • Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review
    • D. Dworakowska, and A.B. Grossman Are neuroendocrine tumours a feature of tuberous sclerosis? A systematic review Endocrine-Related Cancer 16 1 2009 Mar 45 58
    • (2009) Endocrine-Related Cancer , vol.16 , Issue.1 , pp. 45-58
    • Dworakowska, D.1    Grossman, A.B.2
  • 44
    • 28844480918 scopus 로고    scopus 로고
    • Simultaneous Cushing's disease and tuberous sclerosis; A potential role for TSC in pituitary ontogeny
    • S. Tigas, P.V. Carroll, and R. Jones Simultaneous Cushing's disease and tuberous sclerosis; a potential role for TSC in pituitary ontogeny Clinical Endocrinology 63 6 2005 Dec 694 695
    • (2005) Clinical Endocrinology , vol.63 , Issue.6 , pp. 694-695
    • Tigas, S.1    Carroll, P.V.2    Jones, R.3
  • 45
    • 34548683689 scopus 로고    scopus 로고
    • Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: An association or a coincidence?
    • R. Nandagopal, A. Vortmeyer, and E.H. Oldfield Cushing's syndrome due to a pituitary corticotropinoma in a child with tuberous sclerosis: an association or a coincidence? Clinical Endocrinology 67 4 2007 Oct 639 641
    • (2007) Clinical Endocrinology , vol.67 , Issue.4 , pp. 639-641
    • Nandagopal, R.1    Vortmeyer, A.2    Oldfield, E.H.3
  • 48
    • 0026004739 scopus 로고
    • Tuberous sclerosis and parathyroid adenoma
    • L.S. Mortensen, and J. Rungby Tuberous sclerosis and parathyroid adenoma Journal of Clinical Pathology 44 11 1991 Nov 961 962
    • (1991) Journal of Clinical Pathology , vol.44 , Issue.11 , pp. 961-962
    • Mortensen, L.S.1    Rungby, J.2
  • 49
    • 0021330205 scopus 로고
    • Tuberous sclerosis: Unusual associations in four cases
    • E.B. Ilgren, and D. Westmoreland Tuberous sclerosis: unusual associations in four cases Journal of Clinical Pathology 37 3 1984 Mar 272 278
    • (1984) Journal of Clinical Pathology , vol.37 , Issue.3 , pp. 272-278
    • Ilgren, E.B.1    Westmoreland, D.2
  • 50
    • 0021146547 scopus 로고
    • Parathyroid adenoma with primary hyperparathyroidism and tuberous sclerosis. A case report
    • W. Yin, D.M. Zhu, and D.S. Wang Parathyroid adenoma with primary hyperparathyroidism and tuberous sclerosis. A case report Chinese Medical Journal 97 8 1984 Aug 599 602
    • (1984) Chinese Medical Journal , vol.97 , Issue.8 , pp. 599-602
    • Yin, W.1    Zhu, D.M.2    Wang, D.S.3
  • 53
    • 0036130363 scopus 로고    scopus 로고
    • Insulinoma in a patient with tuberous sclerosis: Is there an association?
    • M.S. Eledrisi, C.A. Stuart, and M. Alshanti Insulinoma in a patient with tuberous sclerosis: is there an association? Endocrine Practice 8 2 2002 Mar-Apr 109 112
    • (2002) Endocrine Practice , vol.8 , Issue.2 , pp. 109-112
    • Eledrisi, M.S.1    Stuart, C.A.2    Alshanti, M.3
  • 54
    • 0028373442 scopus 로고
    • Metastasizing gastrinoma and tuberous sclerosis complex. Association or coincidence?
    • G. Schwarzkopf, and J. Pfisterer Metastasizing gastrinoma and tuberous sclerosis complex. Association or coincidence? Zentralblatt für Pathologie 139 6 1994 Feb 477 481
    • (1994) Zentralblatt für Pathologie , vol.139 , Issue.6 , pp. 477-481
    • Schwarzkopf, G.1    Pfisterer, J.2
  • 55
    • 33746599008 scopus 로고    scopus 로고
    • Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations
    • J.L. Merritt 2nd, D.M. Davis, and M.R. Pittelkow Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations American Journal of Medical Genetics. Part A 140 15 2006 Aug 1 1669 1672
    • (2006) American Journal of Medical Genetics. Part A , vol.140 , Issue.15 , pp. 1669-1672
    • Merritt II, J.L.1    Davis, D.M.2    Pittelkow, M.R.3
  • 58
    • 0032913859 scopus 로고    scopus 로고
    • Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood
    • S. Verhoef, R. van Diemen-Steenvoorde, and W.L. Akkersdijk Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood European Journal of Pediatrics 158 4 1999 Apr 284 287
    • (1999) European Journal of Pediatrics , vol.158 , Issue.4 , pp. 284-287
    • Verhoef, S.1    Van Diemen-Steenvoorde, R.2    Akkersdijk, W.L.3
  • 59
    • 2042460595 scopus 로고
    • Tuberous sclerosis associated with spontaneous hypoglycaemia
    • A. Gutman, and M. Leffkowitz Tuberous sclerosis associated with spontaneous hypoglycaemia British Medical Journal 2 5159 1959 Nov 21 1065 1068
    • (1959) British Medical Journal , vol.2 , Issue.5159 , pp. 1065-1068
    • Gutman, A.1    Leffkowitz, M.2
  • 60
    • 3242891576 scopus 로고    scopus 로고
    • A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis
    • T. Sato, K. Seyama, and T. Kumasaka A patient with TSC1 germline mutation whose clinical phenotype was limited to lymphangioleiomyomatosis Journal of Internal Medicine 256 2 2004 Aug 166 173
    • (2004) Journal of Internal Medicine , vol.256 , Issue.2 , pp. 166-173
    • Sato, T.1    Seyama, K.2    Kumasaka, T.3
  • 61
    • 0020383298 scopus 로고
    • Multiple bilateral angiomyolipomas of the kidneys in tuberous brain sclerosis in association with pleomorphous pheochromocytoma
    • J. Stern, A. Friesen, and R. Bowering Multiple bilateral angiomyolipomas of the kidneys in tuberous brain sclerosis in association with pleomorphous pheochromocytoma Fortschritte der Medizin 100 39 1982 Oct 21 1809 1812
    • (1982) Fortschritte der Medizin , vol.100 , Issue.39 , pp. 1809-1812
    • Stern, J.1    Friesen, A.2    Bowering, R.3
  • 62
    • 8844231735 scopus 로고    scopus 로고
    • Diagnosis of tuberous sclerosis complex
    • E.S. Roach, and S.P. Sparagana Diagnosis of tuberous sclerosis complex Journal of Child Neurology 19 9 2004 Sep 643 649
    • (2004) Journal of Child Neurology , vol.19 , Issue.9 , pp. 643-649
    • Roach, E.S.1    Sparagana, S.P.2
  • 64
    • 0033775869 scopus 로고    scopus 로고
    • The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
    • R.F. Lamb, C. Roy, and T.J. Diefenbach The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho Nature Cell Biology 2 5 2000 May 281 287
    • (2000) Nature Cell Biology , vol.2 , Issue.5 , pp. 281-287
    • Lamb, R.F.1    Roy, C.2    Diefenbach, T.J.3
  • 65
    • 0029021621 scopus 로고
    • Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity
    • R. Wienecke, A. Konig, and J.E. DeClue Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity The Journal of Biological Chemistry 270 27 1995 Jul 7 16409 16414
    • (1995) The Journal of Biological Chemistry , vol.270 , Issue.27 , pp. 16409-16414
    • Wienecke, R.1    Konig, A.2    Declue, J.E.3
  • 66
    • 0027770784 scopus 로고
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16
    • Identification and characterization of the tuberous sclerosis gene on chromosome 16 Cell 75 7 1993 Dec 31 1305 1315
    • (1993) Cell , vol.75 , Issue.7 , pp. 1305-1315
  • 67
    • 0037108750 scopus 로고    scopus 로고
    • Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling
    • A.R. Tee, D.C. Fingar, and B.D. Manning Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling Proceedings of the National Academy of Sciences of the United States of America 99 21 2002 Oct 15 13571 13576
    • (2002) Proceedings of the National Academy of Sciences of the United States of America , vol.99 , Issue.21 , pp. 13571-13576
    • Tee, A.R.1    Fingar, D.C.2    Manning, B.D.3
  • 68
    • 0027992456 scopus 로고
    • 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene
    • C. Carbonara, L. Longa, and E. Grosso 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene Human Molecular Genetics 3 10 1994 Oct 1829 1832
    • (1994) Human Molecular Genetics , vol.3 , Issue.10 , pp. 1829-1832
    • Carbonara, C.1    Longa, L.2    Grosso, E.3
  • 69
    • 0028289473 scopus 로고
    • Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
    • A.J. Green, M. Smith, and J.R. Yates Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients Nature Genetics 6 2 1994 Feb 193 196
    • (1994) Nature Genetics , vol.6 , Issue.2 , pp. 193-196
    • Green, A.J.1    Smith, M.2    Yates, J.R.3
  • 70
    • 0036342294 scopus 로고    scopus 로고
    • Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway
    • B.D. Manning, A.R. Tee, and M.N. Logsdon Identification of the tuberous sclerosis complex-2 tumor suppressor gene product tuberin as a target of the phosphoinositide 3-kinase/akt pathway Molecular Cell 10 1 2002 Jul 151 162
    • (2002) Molecular Cell , vol.10 , Issue.1 , pp. 151-162
    • Manning, B.D.1    Tee, A.R.2    Logsdon, M.N.3
  • 71
    • 33846930599 scopus 로고    scopus 로고
    • A mutation and expression analysis of the oncogene BRAF in pituitary adenomas
    • I. Ewing, S. Pedder-Smith, and G. Franchi A mutation and expression analysis of the oncogene BRAF in pituitary adenomas Clinical Endocrinology 66 3 2007 Mar 348 352
    • (2007) Clinical Endocrinology , vol.66 , Issue.3 , pp. 348-352
    • Ewing, I.1    Pedder-Smith, S.2    Franchi, G.3
  • 72
    • 21244498552 scopus 로고    scopus 로고
    • Enhanced protein kinase B/Akt signalling in pituitary tumours
    • M. Musat, M. Korbonits, and B. Kola Enhanced protein kinase B/Akt signalling in pituitary tumours Endocrine-Related Cancer 12 2 2005 Jun 423 433
    • (2005) Endocrine-Related Cancer , vol.12 , Issue.2 , pp. 423-433
    • Musat, M.1    Korbonits, M.2    Kola, B.3
  • 73
    • 0035078753 scopus 로고    scopus 로고
    • Hamartin and tuberin expression in human tissues
    • M.W. Johnson, C. Kerfoot, and T. Bushnell Hamartin and tuberin expression in human tissues Modern Pathology 14 3 2001 Mar 202 210
    • (2001) Modern Pathology , vol.14 , Issue.3 , pp. 202-210
    • Johnson, M.W.1    Kerfoot, C.2    Bushnell, T.3
  • 74
    • 0037454409 scopus 로고    scopus 로고
    • Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma
    • N. El-Hashemite, H. Zhang, and E.P. Henske Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma Lancet 361 9366 2003 Apr 19 1348 1349
    • (2003) Lancet , vol.361 , Issue.9366 , pp. 1348-1349
    • El-Hashemite, N.1    Zhang, H.2    Henske, E.P.3
  • 75
    • 38049169559 scopus 로고    scopus 로고
    • Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis
    • J.J. Bissler, F.X. McCormack, and L.R. Young Sirolimus for angiomyolipoma in tuberous sclerosis complex or lymphangioleiomyomatosis The New England Journal of Medicine 358 2 2008 Jan 10 140 151
    • (2008) The New England Journal of Medicine , vol.358 , Issue.2 , pp. 140-151
    • Bissler, J.J.1    McCormack, F.X.2    Young, L.R.3
  • 76
    • 77956564964 scopus 로고    scopus 로고
    • Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors
    • C. Lam, E. Bouffet, and U. Tabori Rapamycin (sirolimus) in tuberous sclerosis associated pediatric central nervous system tumors Pediatric Blood & Cancer 2009 Oct 23
    • (2009) Pediatric Blood & Cancer
    • Lam, C.1    Bouffet, E.2    Tabori, U.3
  • 77
    • 70350354684 scopus 로고    scopus 로고
    • Novel and evolving therapies in the treatment of malignant phaeochromocytoma: Experience with the mTOR inhibitor everolimus (RAD001)
    • M.R. Druce, G.A. Kaltsas, and M. Fraenkel Novel and evolving therapies in the treatment of malignant phaeochromocytoma: experience with the mTOR inhibitor everolimus (RAD001) Hormone and Metabolic Research 41 9 2009 Sep 697 702
    • (2009) Hormone and Metabolic Research , vol.41 , Issue.9 , pp. 697-702
    • Druce, M.R.1    Kaltsas, G.A.2    Fraenkel, M.3
  • 78
    • 58249085318 scopus 로고    scopus 로고
    • Oral mTOR inhibitor everolimus in patients with gemcitabine-refractory metastatic pancreatic cancer
    • B.M. Wolpin, A.F. Hezel, and T. Abrams Oral mTOR inhibitor everolimus in patients with gemcitabine-refractory metastatic pancreatic cancer Journal of Clinical Oncology 27 2 2009 Jan 10 193 198
    • (2009) Journal of Clinical Oncology , vol.27 , Issue.2 , pp. 193-198
    • Wolpin, B.M.1    Hezel, A.F.2    Abrams, T.3
  • 79
    • 0042316755 scopus 로고    scopus 로고
    • PTEN: One gene, many syndromes
    • C. Eng PTEN: one gene, many syndromes Human Mutation 22 3 2003 Sep 183 198
    • (2003) Human Mutation , vol.22 , Issue.3 , pp. 183-198
    • Eng, C.1
  • 80
    • 14444280886 scopus 로고    scopus 로고
    • Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci
    • C.A. Stratakis, L.S. Kirschner, and S.E. Taymans Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci The Journal of Clinical Endocrinology and Metabolism 83 8 1998 Aug 2972 2976
    • (1998) The Journal of Clinical Endocrinology and Metabolism , vol.83 , Issue.8 , pp. 2972-2976
    • Stratakis, C.A.1    Kirschner, L.S.2    Taymans, S.E.3
  • 81
    • 60749092603 scopus 로고    scopus 로고
    • Familial non-medullary thyroid carcinoma: An update
    • V. Nose Familial non-medullary thyroid carcinoma: an update Endocrine Pathology 19 4 2008 Winter 226 240
    • (2008) Endocrine Pathology , vol.19 , Issue.4 , pp. 226-240
    • Nose, V.1
  • 83
    • 0033738748 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • C. Eng Will the real Cowden syndrome please stand up: revised diagnostic criteria Journal of Medical Genetics 37 11 2000 Nov 828 830
    • (2000) Journal of Medical Genetics , vol.37 , Issue.11 , pp. 828-830
    • Eng, C.1
  • 84
    • 33744782567 scopus 로고    scopus 로고
    • Frequency and spectrum of cancers in the Peutz-Jeghers syndrome
    • N. Hearle, V. Schumacher, and F.H. Menko Frequency and spectrum of cancers in the Peutz-Jeghers syndrome Clinical Cancer Research 12 10 2006 May 15 3209 3215
    • (2006) Clinical Cancer Research , vol.12 , Issue.10 , pp. 3209-3215
    • Hearle, N.1    Schumacher, V.2    Menko, F.H.3
  • 85
    • 0034146595 scopus 로고    scopus 로고
    • Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes
    • C.A. Stratakis Genetics of Carney complex and related familial lentiginoses, and other multiple tumor syndromes Frontiers in Bioscience 5 2000 Mar 1 D353 D366
    • (2000) Frontiers in Bioscience , vol.5
    • Stratakis, C.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.