Genetic screening of multiple endocrine neoplasia type 2: Experience of the USP endocrine genetics unit;Rastreamento gênico da neoplasia endócrina múltipla tipo 2: Experiência da unidade de endocrinologia genética da USP

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 50, Issue 1, 2006, Pages 7-16

  Dos Santos, Marcelo A C G ^a,b   Nunes, Adriana Bezerra ^a   Abelin, Neusa ^a   Ezabella, Marilza C L ^a   Toledo, Rodrigo De Almeida ^a   Lourenço Jr , Delmar ^a   Hayashida, Cesar Yoiti ^a   Da Fonseca, Ivone Izabel M ^a   De Almeida Toledo, Sergio P ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b Clínica Médica   (Brazil)

Author keywords

DGGE; Genetic screening; Genetic sequencing; Medullary thyroid carcinoma; MEN 2; RET proto oncogene

Indexed keywords

EID: 33646720668     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302006000100003     Document Type: Review

References (55)

1. Hoff AO, Cote GJ, Gagel RF. Multiple endocrine neoplasias. Annu Rev Physiol 2000;62:377-400.
2. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol 1999;17:390-3.
3. st ed. Basel: Karger, 2001. pp.103-30.
4. Toledo SPA, Abelin NMA, Ezabella MCL, Hayashida CY, Dahia PM. Neoplasias endocrinas múltiplas. In: Wajchenberg BL, editor. Tratado de endocrinologia clínica. São Paulo: Roca, 1992. pp.943-64.
5. a edição. São Paulo: Roca, 1996. pp.225-42.
6. Nunes AB, Ezabella MCL, Pereira AC, Krieger JE, Toledo SPA. A novel Val648Ile substitution in RET proto-oncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin- producing pheochromocytoma. J Clin Endocrinol Metab 2002;87:5658-61.
7. Maia FFR, Júnior HJ, Araújo LR. Neoplasia endócrina múltipla tipo 2 - manejo diagnóstico e terapêutico. Arq Bras Endocrinol Metab 2002;46:606-10.
8. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Consensus: guideline for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001;86:5658-71.
9. Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995;32:934-7.
10. nd ed. London: Heinemann, 1970.
11. Maciel RMB. Tumorigênese molecular tiroideana: implicaç ões para a prática médica. Arq Bras Endocrinol Metab 2002;46:381-90.
12. Niccoli-Sire P, Murat A, Baudin E, Henry J, Proye C, Bigorgne J, et al. Early or prophylactic thyroidectomy in MEN2/FMTC gene carriers: Results in 71 thyroidectomized patients. Eur J Endocrinol 1999;141:468-74.
13. Wells SA Jr, Franz C. Medullary carcinoma of the thyroid gland. World J Surg 2000;24:952-6.
14. Nunes AB. Identificação de mutações do proto-oncogene RET associadas à forma hereditária do carcinoma medular de tireóide. Tese de Doutoramento, LIM-25, HC-FMUSP, 2001.
15. Hayashida CY, Alves VAF, Kanamura CT, Ezabella MCL, Abelin NMA, Nicolau W, et al. Immunohistochemistry of medullary thyroid carcinoma and C-cell hyperplasia by an affinity-purified anti-human calcitonin antiserum. Cancer 1993;72:1356-63.
16. Abelin NMA, Gomes S, Ivanoff MT, Ezabella MCL, Hayashida CY, Toledo SPA. Abordagem clínica e laboratorial do bócio uni-nodular sólido: vantagens da determinação da calcitonina sérica por métodos distintos. Arq Bras Endocrinol Metab 1999;43:104-13.
17. Carney JA, Sizemore GW, Sheps SG. Adrenal medullary disease in multiple endocrine neoplasia type 2. Pheocromocytoma and its precursors. Am J Clin Pathol 1976;66:279-90.
18. Herfarth KK, Bartsch D, Doherty GM, Wells SA, Lairmore TC. Surgical management of hyperparathyroidism is patients with multiple endocrine neoplasia type 2A. Surgery 1996;120:966-74.
19. Martucciello G, Ceccherini I, Lerone M, Jasonni V. Pathogenesis of Hirschsprung's disease. J Pediat Surg 2000;35:1017-25.
20. Gagel RF. The impact of gene mapping techniques on the management of multiple endocrine neoplasia type 2. Trends Endocr Metab 1991;2:19-25.
21. Kwok JB, Gardner E, Warner JP, Ponder BAJ, Mulligan LM. Structural analysis of the human RET proto-oncogene using exon trapping. Oncogene 1993;8:2575-82.
22. Donnis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, et al. Mutation in RET proto-oncogene are associated with MEN2A and FMTC. Hum Mol Genet 1993;2:851-6.
23. Dahia PL, Toledo SPA, Mulligan LM, Maher ER, Grossman AB, Eng C. Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas. Cancer Res 1997;57:310-3.
24. st ed. Basel: Karger, 2001. pp.81-102.
25. Xing S, Smanik PA, Oglesbee MJ, Trosko JE, Mazzaferri EL, Jhiang SM. Characterization of RET oncogenic activation in MEN2 inherited cancer syndromes. Endocrinology 1996;137:1512-9.
26. Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Med Genet 1995;32:934-7.
27. Puñales MK, Graf H, Gross JL, Maia, AL. RET codon 634 mutations in multiple endocrine neoplasia type 2: Variable clinical features and clinical outcome. J Clin Endocrinol Metab 2003;88:2644-9.
28. Pigny P, Bauters C, Wemeau JL, Houcke ML, Crepin M, Caron P, et al. A novel 9-base pair in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab 1999;84:1700-4.
29. Silva AMA, Maciel RMB, Silva MRD, Toledo SRC, Carvalho MB, Cerutti JM. A novel germ-line mutation in RET exon 8 (Gly533Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab 2003;88:5438-43.
30. Gagel RF. Editorial: RET proto-oncogene mutations and endocrine neoplasia - A story intertwined with neuronal crest differentiation. Endocrinology 1996;137:509-11.
31. Kahraman T, Groot JWB, Rouwe C, Hofstra RMW, Links TP, Sijmons RH, et al. Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2A. Eur J Surgical Oncology 2002;29:331-5.
32. Puñales MK, Rocha PA, Gross JL, Maia AL. Carcinoma medular de tireóide: aspectos moleculares, clínicooncológicos e terapêuticos. Arq Bras Endocrinol Metab 2004;48:137-46.
33. Körkkö J, Annunen S, Pihlajamaa T, Prockop DJ, Kokko LA. Conformation sensitive gel electrophoresis for simple and accurate detection of mutations: Comparison with denaturing gradient gel electrophoresis and nucleotide sequencing. Proc Natl Acad Sci (USA) 1998;95:1681-5.
34. Miller S, Dykes D, Poleski H. A single salting out procedures for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
35. Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 1988;239:487-91.
36. Takahashi M, Buma Y, Iwamoto Y, Ikeda H, Hiahi H. Cloning and expression of RET proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 1988;3:571-8.
37. Takahashi M, Buma Y, Hiahi H. Isolation of RET protooncogene DNA with an amino-terminal signal sequence. Oncogene 1989;4:805-6.
38. Sheffield VC, Cox DR, Lerman LS, Myers RM. Attachment of a 40-base pair G+C rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci (USA) 1989;86:232-6.
39. Mulligan LM, Eng C, Healey CS, Calyton D, Kwok JBJ, Gardner E, et al. Specific mutations of the RET protooncogene are related to disease phenotype in MEN2A and FMTC. Nat Genet 1994;6:70-4.
40. Blank RD, Skalr CA, Martin ML. Denaturing gel electrophoresis to diagnose multiple endocrine neoplasia type 2. Clin Chem 1996;42:598-603.
41. Ceccherini I, Pasini B, Pacim F, Gullo M, Bongarzone I, Romei C, et al. Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene. Oncogene 1997;14:2609-12.
42. Decker RA, Peacock ML. Update on the profile of multiple endocrine neoplasia type 2A RET mutations: practical issues and implications for genetic testing. Cancer 1997;80:557-68.
43. Wu Y, Hayes VM, Osinga J, Mulder IM, Loomam MWG, Buys CHCM, et al. Improvement of fragment and primer selection for mutation detection by denaturing gradient gel electrophoresis. Nucleic Acids Res 1998;26:5432.
44. Wu Y, Stulp RP, Elfferich P, Osinga J, Buys CHCM, Hofstra RMW. Improvement mutation detection in GC-rich DNA fragments by combined DGGE and CDGE. Nucleic Acids Res 1999;27:e9i.
45. Hayashi K, Yandell DW. How sensitive is PCR-SSCP? Hum Mutat 1993;2:338-46.
46. Puñales MK, Graf H, Gross JL, Maia AL. Rastreamento genético do carcinoma medular de tireóide: identificação de mutações no proto-oncogene RET. Arq Bras Endocrinol Metab 2002;46:632-9.
47. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grubendorf M, et al. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 1998;83:770-4.
48. Lombardo F, Baudin E, Chiefari E, Arturi F, Bardet S, Caillou B, et al. Familial medullary thyroid carcinoma: clinical variability and low agressiveness associated with ret mutation at codon 804. J Clin Endocrinol Metab 2002;87:1674-80.
49. Sanger F, Coulson AR. A rapid method for determining sequences in DNA by primed synthesis with DNA polymerase. J Mol Biol 1975;94:444-8.
50. Bugalho MJ, Domingues R, Sobrinho L. The minisequencing method: A simple strategy for genetic screening of MEN 2 families. BMG Genetics 2002;3:1-5.
51. Frediani D. Rastreamento gênico através de enzimas de restrição na forma hereditária do carcinoma medular de tireóide. Monografia, LIM-25, HC-FMUSP, 2002.
52. Toledo SPA, Ezabella MCL, Abelin N, Hayashida CY, Dahia PM. Perda do sítio de restrição fok-I no códon 918 do proto-oncogene RET na neoplasia endócrina múltipla tipo 2B. Arq Bras Endocrinol Metab 1997;41:14-7.
53. Ezabella MC, Hayashida CY, Bisi H, Leite MO, Borelli A, Abelin NM, et al. Early detection of medullary thyroid carcinoma in multiple endocrine neoplasia type II. Rev Hosp Clin Fac Med São Paulo 1990;45:105-9.
54. Toledo SPA, Ferraz AR. Multiple endocrine type II neoplasm. Rev Hosp Clin Fac Med São Paulo 1990;45:1-2.
55. Viégas TMRF. Comparação dos testes de estímulo da secreção de calcitonina (omeprazol versus cálcio) no diagnóstico e seguimento de pacientes com carcinoma medular de tireóide. Monografia, LIM-25, HC-FMUSP, 2001.