25
Views
13
CrossRef citations to date
0
Altmetric
Review

Molecular diagnosis of multiple endocrine neoplasia Type 2

, &
Pages 769-779 | Published online: 09 Jan 2014

References

  • Nunziata V, Giannattasio R, Di Giovanni G, D'Armiento MR, Mancini M. Hereditary localized pruritus in affected members of a kindred with multiple endocrine neoplasia Type 2A (Sipple's syndrome). Gun. Endocrine]. 30(1), 57–63 (1989).
  • •First description of a phenotypic marker in multiple endocrine neoplasia Type 2 (MEN 2)A patients.
  • Gage RF, Levy ML, Donovan DT, Alford BR, Wheeler T, Tschen JA. Multiple endocrine neoplasia Type 2A associated with cutaneous lichen amyloidosis. Ann. Intern. Med. 111 (10), 802–806 (1989).
  • Bugalho MJ, Limbert E, Sobrinho LG eta]. A kindred with multiple endocrine neoplasia Type 2A associated with pruritic skin lesions. Cancer 70(11), 2664–2667 (1992).
  • Berthod F, Beani JC, Bachelot I eta]. Localized scapular pruritus associated with Sipple syndrome (MEN 2A). Eur Dermatol 7(3), 553–556 (1993).
  • Lee DD, Huang JY, Wong CK, Gagel RF, Tsai SE Genetic heterogeneity of familial primary cutaneous amyloidosis: lack of evidence for linkage with the chromosome 10 pericentromeric region in Chinese families. Invest. Dennatol 107(1), 30–33 (1996).
  • Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu Hirschsprung's disease in a family with multiple endocrine neoplasia Type 2. Pecliatr Castroenterol Nutt: 1(4), 603–607 (1982).
  • Frilling A, Becker H, Roeher HD. Unusual features of multiple endocrine neoplasia. Henry Fan Hasp. Med 40(3–4), 253–255 (1992).
  • Takai S, Kinoshita S, Tanaka F, Ikeda M, Tanaka N, Kobayashi T Prominent corneal nerves in patients with multiple endocrine neoplasia Type 2A: diagnostic implications. WorIdj Surg. 16(4), 620–623 (1992).
  • Kinoshita S, Tanaka F, Ohashi Y, Ikeda M, Takai S. Incidence of prominent corneal nerves in multiple endocrine neoplasia Type 2A. Ain.j Ophthalmol 111(3), 307–311 (1991). toKane LA, Tsai MS, Gharib H eta]. Familial medullary thyroid cancer and prominent corneal nerves: clinical and genetic analysis. Clin. Endocrinol Metab. 80(1), 289–293 (1995).
  • Pujol RM, Matias-Guiu X, Miralles J, Colomer A, de Moragas JM. Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia Type 2B or a new entity?' Am Acad. Dermatol 37(2 Pt 2), 349–352 (1997).
  • Gagel RF, Tashjian AH Jr, Cummings T etal The clinical outcome of prospective screening for multiple endocrine neoplasia Type 2A. An 18-year experience. N Engl. J. Med. 318(8), 478–484 (1988).
  • Ponder BA, Ponder MA, Coffey R eta]. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1 (8582), 397–401 (1988).
  • Lips CJ, Landsvater RM, Hoppener JW eta]. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia Type 2A. N Engl. J. Med. 331(13), 828–835 (1994).
  • •Comparison of the reliability of biochemical tests with that of DNA analysis in identifying carriers of the MEN 2 genes.
  • Marsh DJ, McDowall D, Hyland VJ etal The identification of false positive responses to the pentagastrin stimulation test in RETmutation negative members of MEN 2A families. Gun. Endocrinol 44(2), 213–220 (1996).
  • Mathew CG, Chin KS, Easton DF etal A linked genetic marker for multiple endocrine neoplasia Type 2A on chromosome 10. Nature 328(6130), 527–528 (1987).
  • Lairmore TC, Howe JR, Korte JA etal Familial medullary thyroid carcinoma and multiple endocrine neoplasia Type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia Type 2A. Genomic59(1), 181–192 (1991).
  • Donis-Keller H, Dou S, Chi D etal Mutations in the RETproto-oncogene are associated with MEN 2A and FMTC. Hum. Mol Genet. 2(7), 851–856 (1993).
  • •A landmark paper.
  • Mulligan LM, Kwok JB, Healey CS etal Germline mutations of the RETproto-oncogene in multiple endocrine neoplasia Type 2A. Nature 363(6428), 458–460 (1993).
  • •A landmark paper.
  • Carlson KM, Dou S, Chi D etal Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia Type 2B. Proc. Natl Acad. Sci. USA 91(4), 1579–1583 (1994).
  • Eng C, Smith DP, Mulligan LM eta]. Point mutation within the tyrosine kinase domain of the RETproto-oncogene in multiple endocrine neoplasia Type 2B and related sporadic tumours. Hum. Mal Genet. 3(2), 237–241 (1994).
  • Hofstra RM, Landsvater RM, Ceccherini I etal A mutation in the RETproto-oncogene associated with multiple endocrine neoplasia Type 2B and sporadic medullary thyroid carcinoma. Nature 367(6461), 375–376 (1994).
  • Myers SM, Eng C, Ponder BA, Mulligan LM. Characterization of RET proto-oncogene 3- splicing variants and polyadenylation sites: a novel C-terminus for RET. Oncogene 11(10), 2039-2045 (1995).
  • Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H. Cloning and expression of the RETproto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3(5), 571–578 (1988).
  • Ishizaka Y, Ochiai M, Tahira T, Sugimura T, Nagao M. Activation of the RET//oncogene without a sequence encoding a transmembrane domain and transforming activity of two RET-II oncogene products differing in carboxy-termini due to alternative splicing. Oncogene 4(6), 789–794 (1989).
  • Airaksinen MS, Titievsky A, Saarma M. GDNF family neurotrophic factor signaling: four masters, one servant? Mal Cell Neurosci. 13(5), 313–325 (1999).
  • Baloh RII, Enomoto H, Johnson EM Jr, Milbrandt J. The GDNF family ligands and receptors — implications for neural development. CUI7: Opin. Neurobiol 10(1), 103–110 (2000).
  • Pachnis V, Mankoo B, Costantini Expression of the c-RETproto-oncogene during mouse embryogenesis. Development 119(4), 1005–1017 (1993).
  • Meng X, Lindahl M, Hyvonen ME etal Regulation of cell fate decision of undifferentiated spermatogonia by GDNE Science 287(5457), 1489–1493 (2000).
  • Nakamura T, ishizaka Y, Nagao M, Ham M, Ishikawa T Expression of the RET proto-oncogene product in human normal and neoplastic tissues of neural crest origin. J. Radial 172(3), 255–260 (1994).
  • Santoro M, Carlomagno F, Romano A etal. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science 267(5196), 381–383 (1995).
  • Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, adopted on February 20,1996." Clin. Oncol 14(5), 1730–1736 (1996).
  • Eng C, Clayton D, Schuffenecker I eta]. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia Type 2. International RET mutation consortium analysis. JAIVIA 276(19), 1575–1579 (1996).
  • ••Collaborative study involving 18 tertiaryreferral centers worldwide and a total of 477 independent MEN 2 families.
  • Komminoth P, Kunz EK, Matias-Guiu X etal Analysis of RETproto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer76(3), 479–489 (1995).
  • Eng C, Smith DP, Mulligan LM eta]. A novel point mutation in the tyrosine kinase domain of the RETproto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 10(3), 509–513 (1995).
  • Berndt I, Reuter M, Saller B et al A new hot spot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia Type 2A. J. Clin. Endocrinol Metab. 83(3), 770–774 (1998).
  • Bolino A, Schuffenecker I, Luo Y etal RET mutations in exons 13 and 14 of FMTC patients. Oncogene10(12), 2415–2419 (1995).
  • Hofstra RM, Fattoruso 0, Quadro L etal A novel point mutation in the intracellular domain of the RETproto-oncogene in a family with medullary thyroid carcinoma. Clin. Endocrinol Metab. 82(12),4176-4178 (1997).
  • Asai N, Iwashita T, Matsuyama M, Takahashi M. Mechanism of activation of the RETproto-oncogene by multiple endocrine neoplasia 2A mutations. Mal Cell Biol. 15(3), 1613–1619 (1995).
  • Songyang Z, Carraway KL 3rd, Eck MJ etal Catalytic specificity of protein tyrosine kinases is critical for selective signaling. Nature 373 (6514), 536–539 (1995).
  • Smith DP, Houghton C, Ponder BA. Germline mutation of RET codon 883 in two cases of de novo MEN 2B. Oncogene 15(10), 1213–1217 (1997).
  • Gimm 0, Marsh DJ, Andrew SD etal Germline dinucleotide mutation in codon 883 of the RETproto-oncogene in multiple endocrine neoplasia Type 2B without codon 918 mutation. j Clin. Endocrinol Metab. 82(11), 3902–3904 (1997).
  • Rey JM, Brouillet JP, Fonteneau-Allaire J et al Novel germline RETmutation segregating with papillary thyroid carcinomas. Genes Chromosomes Cancer 32(4), 390–391 (2001).
  • Kambouris M, Jackson CE, Feldman GL. Diagnosis of multiple endocrine neoplasia (MEN) 2A, 2B and familial medullary thyroid cancer (MTC) by multiplex PCR and heteroduplex analyses of RETproto-oncogene mutations. Hum. Nlutat. 8(1), 64–70 (1996).
  • Blaugrund JE, Johns MM Jr, Eby YJ etal RETproto-oncogene mutations in inherited and sporadic medullary thyroid cancer. Hum. Mol Genet. 3(10), 1895–1897 (1994).
  • Frank-Raue K, Hoppner W, Frilling A etal Mutations of the RETproto-oncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group. j Clin. Endocrinol Metab. 81(5), 1780–1783 (1996).
  • Mulligan LM, Eng C, Attie T eta]. Diverse phenotypes associated with exon 10 mutations of the RETproto-oncogene. Hum. Mol Genet. 3(12), 2163–2167 (1994).
  • Klein I, Esik 0, Homolya V, Szeri F, Varadi A. Molecular genetic diagnostic program of multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma syndromes in Hungary. Endocrinol 170 (3), 661-666(2001).
  • Landsvater RM, Jansen RP, Hofstra RM, Buys CH, Lips CJ, Ploos van Amstel HK. Mutation analysis of the RETproto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A. Hum. Genet. 97(1), 11–14 (1996).
  • Oriola J, Paramo C, Halperin I, Garcia-Mayor RV, Rivera-Fillat E Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma. Am j Med. Genet. 78(3), 271–273 (1998).
  • Xue F, Yu H, Maurer LH etal Germline RETmutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Hum. Mal Genet. 3(4), 635–638 (1994).
  • Marsh DJ, Robinson BG, Andrew S eta]. A rapid screening method for the detection of mutations in the RETproto-oncogene in multiple endocrine neoplasia Type 2A and familial medullary thyroid carcinoma families. Genomics 23(2), 477–479 (1994).
  • Schuffenecker I, Billaud M, Calender A etal RETproto-oncogene mutations in French MEN 2A and FMTC families. Hum. Mal Genet. 3 (11), 1939–1943 (1994).
  • Eng C, Mulligan LM. Mutations of the RETproto-oncogene in the multiple endocrine neoplasia Type 2 syndromes, related sporadic tumours and Hirschsprung disease. Hum. Mutat. 9(2), 97–109 (1997).
  • Decker RA, Peacock ML, Watson P. Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype—phenotype correlation. Hum. Mol Genet. 7(1), 129–134 (1998).
  • Kitamura Y, Goodfellow PJ, Shimizu K etal Novel germline RETproto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC. Oncogene 14(25), 3103–3106 (1997).
  • Mulligan LM, Eng C, Healey CS etal Specific mutations of the RETproto-oncogene are related to disease phenotype in MEN 2A and FMTC. Natum Genet. 6(1), 70–74 (1994).
  • Antinolo G, Marcos I, Fernandez RM, Romero M, Borrego S. A novel germline point mutation, c.2304in codon768 of the RETproto-oncogene in a patient with medullary thyroid carcinoma. Am. Med. Genet. 110(1), 85–87 (2002).
  • Decker RA, Peacock ML. Update on the profile of multiple endocrine neoplasia Type 2A RETmutations. Practical issues and implications for genetic testing. Cancer 80(S3), 557–568 (1997).
  • Hoppner W Ritter MM. A duplication of 12 bp in the critical cysteine-rich domain of the RETproto-oncogene results in a distinct phenotype of multiple endocrine neoplasia Type 2A. Hum. Mol Genet. 6(4), 587–590 (1997).
  • Hoppner W Dralle H, Brabant G. Duplication of 9 base pairs in the critical cysteine-rich domain of the RETproto-oncogene causes multiple endocrine neoplasia Type 2A. Hum. Mutat. Suppl. 1, S128—S130 (1998).
  • Pigny P, Bauters C, Wemeau JL etal A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J. Clin. Endocrinol Metab. 84(5), 1700–1704 (1999).
  • Bongarzone I, Vigano E, Alberti L eta]. The G1u632—Leu633 deletion in cysteine rich domain of RETinduces constitutive dimerization and alters the processing of the receptor protein. Oncogene 18(34), 4833–4838 (1999).
  • Landsvater RM, de Wit MJ, Zewald RA etal Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia Type 2 (MEN 2) gene carriers. Cancer Res. 56(21), 4853–4855 (1996).
  • Cote GJ, Wohllk N, Evans D, Goepfert H, Gagel RE RETproto-oncogene mutations in multiple endocrine neoplasia Type 2 and medullary thyroid carcinoma. Bailliems Clin. Endocrinol Metab. 9(3), 609–630 (1995).
  • Decker RA, Peacock ML, Borst MJ, Sweet JD, Thompson NW. Progress in genetic screening of multiple endocrine neoplasia Type 2A: is calcitonin testing obsolete? Surgery 118 (2), 257–263 (1995) .
  • Wohllk N, Cote GJ, Evans DB, Goepfert H, Ordonez NG, Gagel RE Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia Type 2. Endocrinol Metab. Clin. North Am 25(1), 1–25 (1996).
  • •Provides an overview of molecular techniques for the identification of MEN 2 gene carriers.
  • Musholt PB, Musholt TJ, Goodfellow PJ, Zehnbauer BA, Wells SA Jr, Moley JE 'Cold' single-strand conformational variants for mutation analysis of the RETproto-oncogene. Surgery122(2), 363–370 (1997).
  • Dang GT, Cote GJ, Schultz PN, Khorana S, Decker RA, Gagel RE A codon 891 exon 15 RETproto-oncogene mutation in familial medullary thyroid carcinoma: a detection strategy. Mol Probes 13(1), 77–79 (1999).
  • Roque M, Pusiol E, Perinetti H, Godoy C, Mayorga LS. A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the RETproto-oncogene related to MEN 2A. BMC Merl Genet. 3(1), 4 (2002).
  • Ruiz A, Antinolo G, Marcos I, Borrego S. Novel technique for scanning of codon 634 of the RETproto-oncogene with fluorescence resonance energy transfer and real-time PCR in patients with medullary thyroid carcinoma. Clin. Chem. 47(11), 1939–1944 (2001).
  • Bugalho MJ, Domingues R, Sobrinho L. The minisequencing method: a simple strategy for genetic screening of MEN 2 families. BMC Genet. 3(1), 8 (2002).
  • Sokolov BP. Primer extension technique for the detection of single nucleotide in genomic DNA. Nucleic Acids Res. 18(12), 3671 (1990).
  • Bugalho MJ, Domingues R, Sobrinho L. MEN 2A families: from hot spots to hot regions. Int. Mal Med. 11(1), 71–74 (2003).
  • Schuffenecker I, Virally-Monod M, Brohet R etal Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia Type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs a Calcitonine. j Clin. Endocrinol Metab. 83(2), 487–491 (1998).
  • Ceccherini I, Romei C, Barone V eta]. Identification of the Cys634Tyr mutation of the RETproto-oncogene in a pedigree with multiple endocrine neoplasia Type 2A and localized cutaneous lichen amyloidosis. j Endocrinol Invest. 17(3), 201–204 (1994).
  • Hofstra RM, Sijmons RII, Stelwagen T etal RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia. J. Invest. Dermatol 107(2), 215–218 (1996).
  • Mulligan LM, Marsh DJ, Robinson BG etal Genotype—phenotype correlation in multiple endocrine neoplasia Type 2: report of the International RET Mutation Consortium. J. Intern. Med. 238 (4), 343–346 (1995).
  • Kousseff BG. Sipple syndrome with lichen amyloidosis as a paracrinopathy. Am. J. Med. Genet. 42(5), 751–753 (1992).
  • Tessitore A, Sinisi AA, Pasquali D et al A novel case of multiple endocrine neoplasia Type 2A associated with two de nova mutations of the RETproto-oncogene. j Clin. Endocrinol Metab. 84(10), 3522–3527 (1999).
  • Nunes AB, Ezabella MC, Pereira AC, Krieger JE, Toledo SR A novel Va1648I1e substitution in RETproto-oncogene observed in a Cys634Arg multiple endocrine neoplasia Type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. j Clin. Endocrinol Metab. 87(12), 5658–5661 (2002).
  • Fink M, Weinhusel A, Niederle B, Haas OA. Distinction between sporadic and hereditary medullary thyroid carcinoma (IVITC) by mutation analysis of the RETproto-oncogene. Study Group Multiple Endocrine Neoplasia Austria (SMENA) . Int.j Cancer 69 (4), 312–316 (1996).
  • Fattoruso 0, Quadro L, Libroia A et al. A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. Hum. Mutat. Suppl. 1, S167—S171 (1998).
  • Shannon KE, Gimm 0, Hinze R, Dralle H, Eng C. Germline V804M mutation in the RETproto-oncogene in two apparently sporadic cases of MTC presenting in the seventh decade of life. J. Endocr Genet. 1(1), 39–45 (1999).
  • Feldman GL, Edmonds MW, Ainsworth PJ etal Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTGATG) mutation. Surgery128(1), 93–98 (2000).
  • Frohnauer MK, Decker RA. Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated? Surgery128(6), 1052–1057 (2000).
  • Nilsson 0, Tisell LE, Jansson S, Ahlman H, Gimm 0, Eng C. Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation. JAIVIA 281(17), 1587–1588 (1999).
  • Lecube A, Hernandez C, Oriola J etal V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers. Surgery131 (5), 509–514 (2002).
  • Bartsch DK, Hasse C, Schug C, Barth P, Rothmund M, Hoppner W A RETdouble mutation in the germline of a kindred with FMTC. Exp. Clin. Endocrinol Diabetes 108(2), 128–132 (2000).
  • Kasprzak L, Nolet S, Gaboury L eta]. Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RETJ Med. Genet 38(11), 784–787 (2001).
  • Miyauchi A, Futami H, Hai N eta]. Two germline missense mutations at codons 804 and 806 of the RETproto-oncogene in the same allele in a patient with multiple endocrine neoplasia Type 2B without codon 918 mutation. Jpn. Cancer Res. 90(1), 1–5 (1999).
  • Menko FH, van der Luijt RB, de Valk IA etal Atypical MEN Type 2B associated with two germline RETmutations on the same allele not involving codon 918.1 Clin. Endocrinol Metab. 87(1), 393–397 (2002).
  • Iwashita T, Murakami H, Kurokawa K etal A two-hit model for development of multiple endocrine neoplasia Type 2B by RET mutations. Biochem. Biophys. Res. Commun. 268(3), 804–808 (2000).
  • Boccia LM, Green JS, Joyce C, Eng C, Taylor SA, Mulligan LM. Mutation of RET codon 768 is associated with the FMTC phenotype. Clin. Genet. 51(2), 81–85 (1997).
  • Niccoli-Sire P, Murat A, Rohmer V etal Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype—genotype relationship in a large series of patients. I Clin. Endocrinol Metab. 86(8), 3746–3753 (2001).
  • Marsh DJ, Andrew SD, Eng C etal Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res. 56(6), 1241–1243 (1996).
  • Eng C, Mulligan LM, Healey CS eta]. Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res. 56(9), 2167–2170 (1996).
  • Miyauchi A, Egawa S, Futami H, Kuma K, Obara T, Yamaguchi K. A novel somatic mutation in the RETproto-oncogene in familial medullary thyroid carcinoma with a germline codon 768 mutation. Jpn. Cancer Res. 88(6), 527–531 (1997).
  • Quadro L, Fattoruso 0, Cosma MP etal Loss of heterozygosity at the RET proto-oncogene locus in a case of multiple endocrine neoplasia Type 2A. J. Clin. Endocrinol Metab. 86(1), 239–244 (2001). loo Huang SC, Torres-Cruz J, Pack SD eta]. Amplification and overexpression of mutant RET in multiple endocrine neoplasia Type 2-associated medullary thyroid carcinoma. J. Clin. Endocrinol Metab. 88(1), 459–463 (2003).
  • Sancandi M, Ceccherini I, Costa M eta]. Incidence of RET mutations in patients with Hirschsprung's disease. J. Pecliatr Surg. 35(1), 139–142 (2000).
  • Ito S, Iwashita T, Asai N et al Biological properties of RET with cysteine mutations correlate with multiple endocrine neoplasia Type 2A, familial medullary thyroid carcinoma and Hirschsprung's disease phenotype. Cancer Res. 57(14), 2870–2872 (1997).
  • Pelet A, Geneste 0, Edery P etal Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease. J. Clin. Invest. 101(6), 1415–1423 (1998).
  • Takahashi M, Iwashita T, Santoro M, Lyonnet S, Lenoir GM, Billaud M. Co-segregation of MEN2 and Hirschsprung's disease: the same mutation of RET with both gain and loss-of-function? Hum. Mutat. 13(4), 331–336 (1999).
  • •The authors discuss how the same mutation in the RETgene may exert antagonistic effects.
  • Brandi ML, Gagel RF, Angeli A et aL Guidelines for diagnosis and therapy of MEN Type 1 and Type 2.1 Gun. Enclocrinol Metab. 86(12), 5658–5671 (2001). Consensus statement from an international group.
  • Van Heurn LW Schaap C, Sie G eta]. Predictive DNA testing for multiple endocrine neoplasia 2: a therapeutic challenge of prophylactic thyroidectomy in very young children. J. Pecliatc Surg. 34(4), 568–571 (1999).
  • Szinnai G, Meier C, Komminoth P, Zumsteg UW. Review of multiple endocrine neoplasia Type 2A in children: therapeutic results of early thyroidectomy and prognostic value of codon analysis. Pediatrics 111 (2), E132—E139 (2003).
  • Lips CJ, Hoppener JW, Thijssen JH. Medullary thyroid carcinoma: role of genetic testing and cakitonin measurement. Ann. Gun. Biochem. 38\(Pt 3), 168–179 (2001).
  • Eng C, Mulligan LM, Smith DP eta]. Low frequency of germline mutations in the RETproto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin. Endocrinol 43(1), 123–127 (1995).
  • Wohllk N, Cote GJ, Bugalho MM eta]. Relevance of RETproto-oncogene mutations in sporadic medullary thyroid carcinoma. J. Clin. Enclocrinol. Metab. 81(10), 3740–3745 (1996). iii Miyauchi A, Matsuzuka F, Hirai K etal Unilateral surgery supported by germline REToncogene mutation analysis in patients with sporadic medullary thyroid carcinoma. World J. Surg. 24(11), 1367–1372 (2000).
  • Carlomagno F, Vitagliano D, Guida T eta]. The kinase inhibitor PP1 blocks tumorigenesis induced by REToncogenes. Cancer Res. 62(4), 1077–1082 (2002).
  • Carlomagno F, Vitagliano D, Guida T etal ZD6474, an orally available inhibitor of KDR tyrosine kinase activity, efficiently blocks oncogenic RETkinases. Cancer Res. 62(24), 7284–7290 (2002).
  • Cohen MS, Hussain FIB, Moley JE Inhibition of medullary thyroid carcinoma cell proliferation and RET phosphorylation by tyrosine kinase inhibitors. Surgery 132(6), 960–966 (2002).

Websites

  • www.ncbi.nlm.nih.govientrez/ dispomim.cgi?id=164761 (Viewed October 2003) Affiliations

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.