Translational Research in Endocrine Surgery

Surgical Oncology Clinics of North America

Volumn 22, Issue 4, 2013, Pages 857-884

  Sherman, Scott K ^a   Howe, James R ^a  

^a UNIVERSITY OF IOWA   (United States)

Author keywords

Endocrine cancer; Heritable cancer syndromes; MEN2; Pancreatic neuroendocrine tumors; Thyroid surgery

Indexed keywords

2 (2 AMINO 3 METHOXYPHENYL)CHROMONE; B RAF KINASE; CABOZANTINIB; EVEROLIMUS; MESSENGER RNA; MITOGEN ACTIVATED PROTEIN KINASE; N [3 (5 CHLORO 1H PYRROLO[2,3 B]PYRIDINE 3 CARBONYL) 2,4 DIFLUOROPHENYL]PROPANESULFONAMIDE; OCTREOTIDE; PLACEBO; PROTEIN RET; SELUMETINIB; SORAFENIB; SUNITINIB; TRAMETINIB; VANDETANIB; VEMURAFENIB;

ADRENAL CORTEX ADENOMA; ADRENAL CORTEX CARCINOMA; ANAPLASTIC THYROID CANCER; BRAF GENE; CANCER PROGNOSIS; CANCER RISK; DIARRHEA; DRUG EFFICACY; DRUG MECHANISM; DRUG RESPONSE; DRUG SAFETY; ENDOCRINE SURGERY; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; HYPERPARATHYROIDISM; HYPERTENSION; MELANOMA; MOLECULARLY TARGETED THERAPY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; NEUTROPENIA; NONHUMAN; PANCREATIC NEUROENDOCRINE TUMOR; PARATHYROID CARCINOMA; PATIENT CARE; PHEOCHROMOCYTOMA; QT PROLONGATION; RET GENE; REVIEW; SIGNAL TRANSDUCTION; SIPPLE SYNDROME; STOMATITIS; THYROID CANCER; THYROID MEDULLARY CARCINOMA; THYROID NODULE; THYROIDECTOMY; TRANSLATIONAL RESEARCH; TREATMENT OUTCOME;

ENDOCRINE CANCER; HERITABLE CANCER SYNDROMES; MEN2; PANCREATIC NEUROENDOCRINE TUMORS; THYROID SURGERY;

ANIMALS; ENDOCRINE SURGICAL PROCEDURES; ENDOCRINE SYSTEM DISEASES; HUMANS; TRANSLATIONAL MEDICAL RESEARCH;

EID: 84883558234     PISSN: 10553207     EISSN: 15585042     Source Type: Journal    
DOI: 10.1016/j.soc.2013.06.012     Document Type: Review

References (162)

1. Piscazzi A., Costantino E., Maddalena F., et al. Activation of the RAS/RAF/ERK signaling pathway contributes to resistance to sunitinib in thyroid carcinoma cell lines. JClin Endocrinol Metab 2012, 97:E898.
2. Roskoski R. ERK1/2 MAP kinases: structure, function, and regulation. Pharmacol Res 2012, 66:105.
3. Caronia L.M., Phay J.E., Shah M.H. Role of BRAF in thyroid oncogenesis. Clin Cancer Res 2011, 17:7511.
4. Xing M. BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev 2007, 28:742.
5. Liu D., Xing M. Potent inhibition of thyroid cancer cells by the MEK inhibitor PD0325901 and its potentiation by suppression of the PI3K and NF-kappaB pathways. Thyroid 2008, 18:853.
6. Palona I., Namba H., Mitsutake N., et al. BRAFV600E promotes invasiveness of thyroid cancer cells through nuclear factor kappaB activation. Endocrinology 2006, 147:5699.
7. Kapiteijn E., Schneider T.C., Morreau H., et al. New treatment modalities in advanced thyroid cancer. Ann Oncol 2012, 23:10.
8. Santarpia L., Myers J.N., Sherman S.I., et al. Genetic alterations in the RAS/RAF/mitogen-activated protein kinase and phosphatidylinositol 3-kinase/Akt signaling pathways in the follicular variant of papillary thyroid carcinoma. Cancer 2010, 116:2974.
9. Ricarte-Filho J.C., Ryder M., Chitale D.A., et al. Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1. Cancer Res 2009, 69:4885.
10. Tufano R.P., Teixeira G.V., Bishop J., et al. BRAF mutation in papillary thyroid cancer and its value in tailoring initial treatment: a systematic review and meta-analysis. Medicine (Baltimore) 2012, 91:274.
11. Knauf J.A., Fagin J.A. Role of MAPK pathway oncoproteins in thyroid cancer pathogenesis and as drug targets. Curr Opin Cell Biol 2009, 21:296.
12. Mathew C.G., Chin K.S., Easton D.F., et al. Alinked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 1987, 328:527.
13. Simpson N.E., Kidd K.K., Goodfellow P.J., et al. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 1987, 328:528.
14. Lairmore T.C., Howe J.R., Korte J.A., et al. Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. Genomics 1991, 9:181.
15. Takahashi M., Ritz J., Cooper G.M. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell 1985, 42:581.
16. Fusco A., Grieco M., Santoro M., et al. Anew oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases. Nature 1987, 328:170.
17. Donghi R., Sozzi G., Pierotti M.A., et al. The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A). Oncogene 1989, 4:521.
18. Grieco M., Santoro M., Berlingieri M.T., et al. PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected invivo in human thyroid papillary carcinomas. Cell 1990, 60:557.
19. Pierotti M.A., Santoro M., Jenkins R.B., et al. Characterization of an inversion on the long arm of chromosome 10 juxtaposing D10S170 and RET and creating the oncogenic sequence RET/PTC. Proc Natl Acad Sci USA 1992, 89:1616.
20. Lairmore T.C., Dou S., Howe J.R., et al. A1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus. Proc Natl Acad Sci USA 1993, 90:492.
21. Mulligan L.M., Kwok J.B., Healey C.S., et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993, 363:458.
22. Donis-Keller H., Dou S., Chi D., et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993, 2:851.
23. Hofstra R.M., Landsvater R.M., Ceccherini I., et al. Amutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994, 367:375.
24. Eng C., Smith D.P., Mulligan L.M., et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994, 3:237.
25. Carlson K.M., Dou S., Chi D., et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994, 91:1579.
26. Chi D.D., Toshima K., Donis-Keller H., et al. Predictive testing for multiple endocrine neoplasia type 2A (MEN 2A) based on the detection of mutations in the RET protooncogene. Surgery 1994, 116:124.
27. Wells S.A., Chi D.D., Toshima K., et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994, 220:237.
28. Mulligan L.M., Eng C., Healey C.S., et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 1994, 6:70.
29. Eng C., Clayton D., Schuffenecker I., et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET Mutation Consortium analysis. JAMA 1996, 276:1575.
30. Skinner M.A., DeBenedetti M.K., Moley J.F., et al. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. JPediatr Surg 1996, 31:177.
31. Brandi M.L., Gagel R.F., Angeli A., et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. JClin Endocrinol Metab 2001, 86:5658.
32. Kloos R.T., Eng C., Evans D.B., et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009, 19:565.
33. Calva D., O'Dorisio T.M., Sue O'Dorisio M., et al. When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?. Ann Surg Oncol 2009, 16:2237.
34. Simon S., Pavel M., Hensen J., et al. Multiple endocrine neoplasia 2A syndrome: surgical management. JPediatr Surg 2002, 37:897.
35. Elisei R., Cosci B., Romei C., et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. JClin Endocrinol Metab 2008, 93:682.
36. Agrawal N., Jiao Y., Sausen M., et al. Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS. JClin Endocrinol Metab 2013, 98:E364.
37. Davies H., Bignell G.R., Cox C., et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417:949.
38. Wan P.T., Garnett M.J., Roe S.M., et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004, 116:855.
39. Kimura E.T., Nikiforova M.N., Zhu Z., et al. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 2003, 63:1454.
40. Cohen Y., Xing M., Mambo E., et al. BRAF mutation in papillary thyroid carcinoma. JNatl Cancer Inst 2003, 95:625.
41. Liu D., Hu S., Hou P., et al. Suppression of BRAF/MEK/MAP kinase pathway restores expression of iodide-metabolizing genes in thyroid cells expressing the V600E BRAF mutant. Clin Cancer Res 2007, 13:1341.
42. Mitsutake N., Knauf J.A., Mitsutake S., et al. Conditional BRAFV600E expression induces DNA synthesis, apoptosis, dedifferentiation, and chromosomal instability in thyroid PCCL3 cells. Cancer Res 2005, 65:2465.
43. Poulikakos P.I., Persaud Y., Janakiraman M., et al. RAF inhibitor resistance is mediated by dimerization of aberrantly spliced BRAF(V600E). Nature 2011, 480:387.
44. Bommarito A., Richiusa P., Carissimi E., et al. BRAFV600E mutation, TIMP-1 upregulation, and NF-kappaB activation: closing the loop on the papillary thyroid cancer trilogy. Endocr Relat Cancer 2011, 18:669.
45. Lito P., Pratilas C.A., Joseph E.W., et al. Relief of profound feedback inhibition of mitogenic signaling by RAF inhibitors attenuates their activity in BRAFV600E melanomas. Cancer Cell 2012, 22:668.
46. Kim J., Giuliano A.E., Turner R.R., et al. Lymphatic mapping establishes the role of BRAF gene mutation in papillary thyroid carcinoma. Ann Surg 2006, 244:799.
47. Xing M., Clark D., Guan H., et al. BRAF mutation testing of thyroid fine-needle aspiration biopsy specimens for preoperative risk stratification in papillary thyroid cancer. JClin Oncol 2009, 27:2977.
48. Kim T.Y., Kim W.B., Rhee Y.S., et al. The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma. Clin Endocrinol (Oxf) 2006, 65:364.
49. Prescott J.D., Sadow P.M., Hodin R.A., et al. BRAF(V600E) status adds incremental value to current risk classification systems in predicting papillary thyroid carcinoma recurrence. Surgery 2012, 152:984.
50. Niemeier L.A., Kuffner Akatsu H., Song C., et al. Acombined molecular-pathologic score improves risk stratification of thyroid papillary microcarcinoma. Cancer 2012, 118:2069.
51. Rotstein L. The role of lymphadenectomy in the management of papillary carcinoma of the thyroid. JSurg Oncol 2009, 99:186.
52. Dutenhefner S.E., Marui S., Santos A.B., et al. Braf, a tool in the decision to perform elective neck dissection?. Thyroid 2012, [Epub ahead of print].
53. Joo J.Y., Park J.Y., Yoon Y.H., et al. Prediction of occult central lymph node metastasis in papillary thyroid carcinoma by preoperative BRAF analysis using fine-needle aspiration biopsy: a prospective study. JClin Endocrinol Metab 2012, 97:3996.
54. Adjei A.A., Cohen R.B., Franklin W., et al. Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. JClin Oncol 2008, 26:2139.
55. Flaherty K.T., Robert C., Hersey P., et al. Improved survival with MEK inhibition in BRAF-mutated melanoma. NEngl J Med 2012, 367:107.
56. Ho A.L., Grewal R.K., Leboeuf R., et al. Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. NEngl J Med 2013, 368:623.
57. Henderson Y.C., Ahn S.H., Kang Y., et al. Sorafenib potently inhibits papillary thyroid carcinomas harboring RET/PTC1 rearrangement. Clin Cancer Res 2008, 14:4908.
58. Savvides P., Nagaiah G., Lavertu P.N., et al. Phase II trial of sorafenib in patients with advanced anaplastic carcinoma of the thyroid. Thyroid 2013, 23(5):600-604.
59. Shoffski P., Elisei R., Muller S., et al. An international, double-blind, randomized, placebo-controlled phase III trial (EXAM) of cabozantinib (XL184) in medullary thyroid carcinoma (MTC) patients (pts) with documented RECIST progression at baseline. JClin Oncol 2012, 30. [abstract].
60. Nucera C., Nehs M.A., Nagarkatti S.S., et al. Targeting BRAFV600E with PLX4720 displays potent antimigratory and anti-invasive activity in preclinical models of human thyroid cancer. Oncologist 2011, 16:296.
61. Nehs M.A., Nagarkatti S., Nucera C., et al. Thyroidectomy with neoadjuvant PLX4720 extends survival and decreases tumor burden in an orthotopic mouse model of anaplastic thyroid cancer. Surgery 2010, 148:1154.
62. Nehs M.A., Nucera C., Nagarkatti S.S., et al. Late intervention with anti-BRAF(V600E) therapy induces tumor regression in an orthotopic mouse model of human anaplastic thyroid cancer. Endocrinology 2012, 153:985.
63. Rosove M.H., Peddi P.F., Glaspy J.A. BRAF V600E inhibition in anaplastic thyroid cancer. NEngl J Med 2013, 368:684.
64. Wells S.A., Robinson B.G., Gagel R.F., et al. Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial. JClin Oncol 2012, 30:134.
65. Nikiforov Y.E., Yip L., Nikiforova M.N. New strategies in diagnosing cancer in thyroid nodules: impact of molecular markers. Clin Cancer Res 2013, 19(9):2283-2288.
66. McCoy K.L., Carty S.E., Armstrong M.J., et al. Intraoperative pathologic examination in the era of molecular testing for differentiated thyroid cancer. JAm Coll Surg 2012, 215:546.
67. Kroll T.G., Sarraf P., Pecciarini L., et al. PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected]. Science 2000, 289:1357.
68. Lodewijk L., Prins A.M., Kist J.W., et al. The value of miRNA in diagnosing thyroid cancer: a systematic review. Cancer Biomark 2012, 11:229.
69. Alexander E.K., Kennedy G.C., Baloch Z.W., et al. Preoperative diagnosis of benign thyroid nodules with indeterminate cytology. NEngl J Med 2012, 367:705.
70. Duick D.S., Klopper J.P., Diggans J.C., et al. The impact of benign gene expression classifier test results on the endocrinologist-patient decision to operate on patients with thyroid nodules with indeterminate fine-needle aspiration cytopathology. Thyroid 2012, 22:996.
71. Li H., Robinson K.A., Anton B., et al. Cost-effectiveness of a novel molecular test for cytologically indeterminate thyroid nodules. JClin Endocrinol Metab 2011, 96:E1719.
72. McShane L.A., Conley B.A., Cavenagh M.M., et al. Criteria for use of omics-based predictors in NCI-sponsored clinical trials. JClin Oncol 2012, 30. [abstract 58].
73. Nikiforov Y.E., Ohori N.P., Hodak S.P., et al. Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples. JClin Endocrinol Metab 2011, 96:3390.
74. Carpten J.D., Robbins C.M., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 2002, 32:676.
75. Shattuck T.M., Valimaki S., Obara T., et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. NEngl J Med 2003, 349:1722.
76. Alvelos M.I., Mendes M., Soares P. Molecular alterations in sporadic primary hyperparathyroidism. Genet Res Int 2011, 2011:275802.
77. Mosimann C., Hausmann G., Basler K. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with beta-catenin/Armadillo. Cell 2006, 125:327.
78. Tan M.H., Morrison C., Wang P., et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res 2004, 10:6629.
79. Juhlin C.C., Hoog A. Parafibromin as a diagnostic instrument for parathyroid carcinoma-Lone Ranger or part of the posse?. Int J Endocrinol 2010, 2010:324964.
80. Howe J.R., Norton J.A., Wells S.A. Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery 1993, 114:1070.
81. Frank-Raue K., Rybicki L.A., Erlic Z., et al. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat 2011, 32:51.
82. Larsson C., Skogseid B., Oberg K., et al. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 1988, 332:85.
83. Chandrasekharappa S.C., Guru S.C., Manickam P., et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997, 276:404.
84. Lemmens I., Van de Ven W.J., Kas K., et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet 1997, 6:1177.
85. Oberg K. The genetics of neuroendocrine tumors. Semin Oncol 2013, 40:37.
86. Lemos M.C., Thakker R.V. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008, 29:22.
87. Jiao Y., Shi C., Edil B.H., et al. DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors. Science 2011, 331:1199.
88. Lairmore T.C., Piersall L.D., DeBenedetti M.K., et al. Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Ann Surg 2004, 239:637.
89. Akerstrom G., Stalberg P. Surgical management of MEN-1 and -2: state of the art. Surg Clin North Am 2009, 89:1047.
90. Waldmann J., Lopez C.L., Langer P., et al. Surgery for multiple endocrine neoplasia type 1-associated primary hyperparathyroidism. Br J Surg 2010, 97:1528.
91. Cromer M.K., Starker L.F., Choi M., et al. Identification of somatic mutations in parathyroid tumors using whole-exome sequencing. JClin Endocrinol Metab 2012, 97:E1774.
92. Fishbein L., Nathanson K.L. Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 2012, 205:1.
93. Barker D., Wright E., Nguyen K., et al. Agenomic search for linkage of neurofibromatosis to RFLPs. JMed Genet 1987, 24:536.
94. Seizinger B.R., Rouleau G.A., Ozelius L.J., et al. Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene. Cell 1987, 49:589.
95. Bausch B., Borozdin W., Mautner V.F., et al. Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. JClin Endocrinol Metab 2007, 92:2784.
96. Welander J., Larsson C., Backdahl M., et al. Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. Hum Mol Genet 2012, 21:5406.
97. Martin G.A., Viskochil D., Bollag G., et al. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990, 63:843.
98. Johannessen C.M., Reczek E.E., James M.F., et al. The NF1 tumor suppressor critically regulates TSC2 and mTOR. Proc Natl Acad Sci USA 2005, 102:8573.
99. Latif F., Tory K., Gnarra J., et al. Identification of the von Hippel-Lindau disease tumor suppressor gene. Science 1993, 260:1317.
100. Curley S.A., Lott S.T., Luca J.W., et al. Surgical decision-making affected by clinical and genetic screening of a novel kindred with von Hippel-Lindau disease and pancreatic islet cell tumors. Ann Surg 1998, 227:229.
101. Maher E.R., Neumann H.P., Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011, 19:617.
102. Ong K.R., Woodward E.R., Killick P., et al. Genotype-phenotype correlations in von Hippel-Lindau disease. Hum Mutat 2007, 28:143.
103. Baysal B.E., Ferrell R.E., Willett-Brozick J.E., et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 2000, 287:848.
104. Gimm O., Armanios M., Dziema H., et al. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 2000, 60:6822.
105. Astuti D., Douglas F., Lennard T.W., et al. Germline SDHD mutation in familial phaeochromocytoma. Lancet 2001, 357:1181.
106. Hensen E.F., Jordanova E.S., van Minderhout I.J., et al. Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families. Oncogene 2004, 23:4076.
107. Burnichon N., Briere J.J., Libe R., et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 2010, 19:3011.
108. Astuti D., Latif F., Dallol A., et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001, 69:49.
109. Niemann S., Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet 2000, 26:268.
110. Hao H.X., Khalimonchuk O., Schraders M., et al. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science 2009, 325:1139.
111. Bayley J.P., Kunst H.P., Cascon A., et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 2010, 11:366.
112. Welander J., Soderkvist P., Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 2011, 18:R253.
113. Timmers H.J., Gimenez-Roqueplo A.P., Mannelli M., et al. Clinical aspects of SDHx-related pheochromocytoma and paraganglioma. Endocr Relat Cancer 2009, 16:391.
114. Amar L., Baudin E., Burnichon N., et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. JClin Endocrinol Metab 2007, 92:3822.
115. Qin Y., Yao L., King E.E., et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 2010, 42:229.
116. Abermil N., Guillaud-Bataille M., Burnichon N., et al. TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma. JClin Endocrinol Metab 2012, 97:E805.
117. Comino-Mendez I., Gracia-Aznarez F.J., Schiavi F., et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 2011, 43:663.
118. Burnichon N., Cascon A., Schiavi F., et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012, 18:2828.
119. Burnichon N., Vescovo L., Amar L., et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet 2011, 20:3974.
120. Fassnacht M., Terzolo M., Allolio B., et al. Combination chemotherapy in advanced adrenocortical carcinoma. NEngl J Med 2012, 366:2189.
121. Giordano T.J., Thomas D.G., Kuick R., et al. Distinct transcriptional profiles of adrenocortical tumors uncovered by DNA microarray analysis. Am J Pathol 2003, 162:521.
122. Begemann M., Spengler S., Gogiel M., et al. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature. JMed Genet 2012, 49:547.
123. Gicquel C., Bertagna X., Schneid H., et al. Rearrangements at the 11p15 locus and overexpression of insulin-like growth factor-II gene in sporadic adrenocortical tumors. JClin Endocrinol Metab 1994, 78:1444.
124. Kirschner L.S. The next generation of therapies for adrenocortical cancers. Trends Endocrinol Metab 2012, 23:343.
125. de Fraipont F., El Atifi M., Cherradi N., et al. Gene expression profiling of human adrenocortical tumors using complementary deoxyribonucleic acid microarrays identifies several candidate genes as markers of malignancy. JClin Endocrinol Metab 2005, 90:1819.
126. Kroiss M., Quinkler M., Johanssen S., et al. Sunitinib in refractory adrenocortical carcinoma: a phase II, single-arm, open-label trial. JClin Endocrinol Metab 2012, 97:3495.
127. Stommel J.M., Kimmelman A.C., Ying H., et al. Coactivation of receptor tyrosine kinases affects the response of tumor cells to targeted therapies. Science 2007, 318:287.
128. Lin C.I., Whang E.E., Moalem J., et al. Strategic combination therapy overcomes tyrosine kinase coactivation in adrenocortical carcinoma. Surgery 2012, 152:1045.
129. Choi M., Scholl U.I., Yue P., et al. K+ channel mutations in adrenal aldosterone-producing adenomas and hereditary hypertension. Science 2011, 331:768.
130. Beuschlein F., Boulkroun S., Osswald A., et al. Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet 2013, 45(4):440-444.
131. Boulkroun S., Beuschlein F., Rossi G.P., et al. Prevalence, clinical, and molecular correlates of KCNJ5 mutations in primary aldosteronism. Hypertension 2012, 59:592.
132. Yao J.C., Hassan M., Phan A., et al. One hundred years after "carcinoid": epidemiology of and prognostic factors for neuroendocrine tumors in 35,825 cases in the United States. JClin Oncol 2008, 26:3063.
133. Triponez F., Dosseh D., Goudet P., et al. Epidemiology data on 108 MEN 1 patients from the GTE with isolated nonfunctioning tumors of the pancreas. Ann Surg 2006, 243:265.
134. Lowney J.K., Frisella M.M., Lairmore T.C., et al. Pancreatic islet cell tumor metastasis in multiple endocrine neoplasia type 1: correlation with primary tumor size. Surgery 1998, 124:1043.
135. Korse C.M., Taal B.G., van Velthuysen M.L., et al. Incidence and survival of neuroendocrine tumours in the Netherlands according to histological grade: Experience of two decades of cancer registry. Eur J Cancer 2013, 49(8):1975-1983.
136. Mayo S.C., de Jong M.C., Pulitano C., et al. Surgical management of hepatic neuroendocrine tumor metastasis: results from an international multi-institutional analysis. Ann Surg Oncol 2010, 17:3129.
137. Long R.G., Barnes A.J., Adrian T.E., et al. Suppression of pancreatic endocrine tumour secretion by long-acting somatostatin analogue. Lancet 1979, 2:764.
138. O'Toole D., Saveanu A., Couvelard A., et al. The analysis of quantitative expression of somatostatin and dopamine receptors in gastro-entero-pancreatic tumours opens new therapeutic strategies. Eur J Endocrinol 2006, 155:849.
139. Sherman SK, Carr JC, Wang D, etal. Gastric inhibitory polypeptide receptor is a promising target for imaging and therapy in neuroendocrine tumors. Surgery, in press.
140. Yamada Y., Post S.R., Wang K., et al. Cloning and functional characterization of a family of human and mouse somatostatin receptors expressed in brain, gastrointestinal tract, and kidney. Proc Natl Acad Sci USA 1992, 89:251.
141. Kaemmerer D., Peter L., Lupp A., et al. Molecular imaging with (6)(8)Ga-SSTR PET/CT and correlation to immunohistochemistry of somatostatin receptors in neuroendocrine tumours. Eur J Nucl Med Mol Imaging 2011, 38:1659.
142. Cervia D., Bagnoli P. An update on somatostatin receptor signaling in native systems and new insights on their pathophysiology. Pharmacol Ther 2007, 116:322.
143. Ludvigsen E., Stridsberg M., Taylor J.E., et al. Subtype selective interactions of somatostatin and somatostatin analogs with sst1, sst2, and sst5 in BON-1 cells. Med Oncol 2004, 21:285.
144. Oberg K., Knigge U., Kwekkeboom D., et al. Neuroendocrine gastro-entero-pancreatic tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2012, 23(Suppl 7):vii124.
145. Rinke A., Muller H.H., Schade-Brittinger C., et al. Placebo-controlled, double-blind, prospective, randomized study on the effect of octreotide LAR in the control of tumor growth in patients with metastatic neuroendocrine midgut tumors: a report from the PROMID Study Group. JClin Oncol 2009, 27:4656.
146. Kwekkeboom D.J., Kam B.L., van Essen M., et al. Somatostatin-receptor-based imaging and therapy of gastroenteropancreatic neuroendocrine tumors. Endocr Relat Cancer 2010, 17:R53.
147. Gabriel M., Decristoforo C., Kendler D., et al. 68Ga-DOTA-Tyr3-octreotide PET in neuroendocrine tumors: comparison with somatostatin receptor scintigraphy and CT. JNucl Med 2007, 48:508.
148. Dahdaleh F.S., Lorenzen A., Rajput M., et al. The value of preoperative imaging in small bowel neuroendocrine tumors. Ann Surg Oncol 2013, 20(6):1912-1917.
149. Zaknun J.J., Bodei L., Mueller-Brand J., et al. The joint IAEA, EANM, and SNMMI practical guidance on peptide receptor radionuclide therapy (PRRNT) in neuroendocrine tumours. Eur J Nucl Med Mol Imaging 2013, 40(5):800-816.
150. Kwekkeboom D.J., de Herder W.W., Kam B.L., et al. Treatment with the radiolabeled somatostatin analog [177 Lu-DOTA 0, Tyr3]octreotate: toxicity, efficacy, and survival. JClin Oncol 2008, 26:2124.
151. Lacroix A., Bolte E., Tremblay J., et al. Gastric inhibitory polypeptide-dependent cortisol hypersecretion-a new cause of Cushing's syndrome. NEngl J Med 1992, 327:974.
152. de Wilde R.F., Edil B.H., Hruban R.H., et al. Well-differentiated pancreatic neuroendocrine tumors: from genetics to therapy. Nat Rev Gastroenterol Hepatol 2012, 9:199.
153. Missiaglia E., Dalai I., Barbi S., et al. Pancreatic endocrine tumors: expression profiling evidences a role for AKT-mTOR pathway. JClin Oncol 2010, 28:245.
154. Heaphy C.M., de Wilde R.F., Jiao Y., et al. Altered telomeres in tumors with ATRX and DAXX mutations. Science 2011, 333:425.
155. Henson J.D., Neumann A.A., Yeager T.R., et al. Alternative lengthening of telomeres in mammalian cells. Oncogene 2002, 21:598.
156. Yao J.C., Shah M.H., Ito T., et al. Everolimus for advanced pancreatic neuroendocrine tumors. NEngl J Med 2011, 364:514.
157. Raymond E., Dahan L., Raoul J.L., et al. Sunitinib malate for the treatment of pancreatic neuroendocrine tumors. NEngl J Med 2011, 364:501.
158. Iihara M., Yamashita T., Okamoto T., et al. Anationwide clinical survey of patients with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma in Japan. Jpn J Clin Oncol 1997, 27:128.
159. Machens A., Brauckhoff M., Holzhausen H.J., et al. Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. JClin Endocrinol Metab 2005, 90:3999.
160. Yip L., Cote G.J., Shapiro S.E., et al. Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg 2003, 138:409.
161. Jensen R.T., Berna M.J., Bingham D.B., et al. Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer 2008, 113:1807.
162. Maiese K., Chong Z.Z., Shang Y.C., et al. mTOR: on target for novel therapeutic strategies in the nervous system. Trends Mol Med 2013, 19:51.