Genetic alterations of the ret proto-oncogene in familial and sporadic pheochromocytomas

Hormone Research in Paediatrics

Volumn 47, Issue 4-6, 1997, Pages 263-268

  Rodien, P ^a   Jeunemaitre, X ^a   Dumont, C ^a   Beldjord, C ^b   Plouin, P ^a  

^a HÔPITAL BROUSSAIS   (France)

^b Hôpital Cochin ^*  (France)

Author keywords

Gene mutation; Multiple endocrine neoplasia type 2; Pheochromocytoma; RET proto Oncogene

Indexed keywords

PENTAGASTRIN;

ADULT; CAUCASIAN; CODON; CONFERENCE PAPER; DENATURING GRADIENT GEL ELECTROPHORESIS; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MULTIPLE ENDOCRINE NEOPLASIA; ONCOGENE RET; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROVOCATION TEST; SCREENING TEST; SOMATIC MUTATION;

ADRENAL GLAND NEOPLASMS; ADULT; DNA MUTATIONAL ANALYSIS; DROSOPHILA PROTEINS; FEMALE; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PENTAGASTRIN; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES;

EID: 0030897626     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000185474     Document Type: Article

References (29)

1. Neumann HPH, Berger DP, Sigmund G, Blum U, Schmidt D, Parmer R, Volk B, Kirstc G: Phcochromocytoma, multiple endocrine neoplasia type 2. and von Hippel-Lindau disease, N Engl J Med 1993;329:1531-1538.
2. Riccardi VM: Neurofibromatosis: Past, present and future, N Engl J Med 1991:324:1683-1684.
3. Sobol H, Narod SA, Nakamura Y, Boneu A, Calmettes C, Chadenas D, Charpentier G, Chatal JF, Delepine N, Delisle MJ: Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis, N Engl J Med 1989:321:996-1001.
4. Lalif F, Tory K, Gnarra J, Yao M, Dull FM, Orcutt ML, Stackhouse T, Identification of the von Hippel-Lindau disease tumor suppressor gene, Science 1993;260:1317-1320.
5. Mulligan LM, Kwok JBJ, Healey CS, Elsdon MJ, Eng C, Gardner E, Love DR, Mole SE, Moore JK, Papi L, et al: Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A, Nature 1993:363:458- 460.
6. Hofstra RMW, Landsvater RM, Ccccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini R, Hop-pener JW, van Amstel HK, Romeo G, A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma, Nature 1994:367:375-376.
7. Duan DR, Pause A, Burgess WH, Aso T, Chen DY, Garrett KP, Conaway RC, Conaway JW, Linehan WM, Klausner RD: Inhibition of transcription elongation by the VHL tumor suppressor protein, Science 1995:269:1402-1406.
8. Gutman DH, Wood DL, Collins FS: Identification of the neurofibromatosis type I gene product, Proc Natl Acad Sei USA 1991:88:9658-9662.
9. Komminoth P, Kunz E, Hiort O, Schroder S, Matias-Guiu X, Christiansen G, Roth J, Heith PU: Detection of RET protooncogene point mutations in paraffin-embedded pheochromo-cytoma specimens by nonradioactive singlestrand conformation polymorphism analysis and direct sequencing, Am J Pathol 1994; 145: 922-929.
10. Zedenius J, Wallin G, Hambcrgcr B, Nor-dcnskjold M, Weber G, Larsson C: Somatic and MEN 2A de novo mutations identified in the RET prolooncogenc by screening of sporadic MTCs, Hum Mol Genet 1994:3:1259-1262.
11. Beldjord C, Desclaux-Arramond F, Ral'fin-Sanson M, Corvol JC, De Keyzer Y, Luton JP, Plouin PF, Bertagna X: The RET protooncogene in sporadic phcochromocytoma: frequent MEN 2-like mutations and new molecular defects, J Clin Endocrinol Metab 1995:80:2063-2068.
12. Lindor NM, Honchcl R, Khosla S, Thibodeau SN: Mutations in the RET prolooncogenc in sporadic phcochromocytoma, J Clin Endocrinol Metab 1995;80:627-629.
13. Yoshimoto K, Tanaka C, Hamaguchi S, Kimu-ra T, Iwahana H, Miyauchi A, Itakura M: Tumor-specific mutations in the tyrosine kinase domain of the RET protooncogene in phcochromocytoma of sporadic type, Endocr J 1995;42:265-270.
14. Eng C, Crossey PA, Mulligan L, Healey CS, Houghton C, Prowsc A, Chew SL, Dahia PLM, O'Riordan JLH, Toledo SPA, Smith DP, Maher ER, Ponder BAJ: Mutations in the RET protooncogenc and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phacochromocytomas, J Med Genet 1995;32:934-937.
15. Neumann HPH, Eng C, Mulligan LM, Glavac D, Zauner Ponder RA, Crossey PA, Maher ER, Brauch H: Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia type 2. JAMA 1995:274:1149- 1151.
16. Xu W, Mulligan LM, Ponder MA, Liu L, Smith BA, Mathew CG, Ponder BA: Loss of NF1 alleles in phaeochromocytomas from patients with type 1 neurofibromatosis, Genes Chro-mosom Cancer 1992;4:337-342.
17. Gutmann DH, Geist RT, Rose K, Wallin G, Molcy JF: Loss of neurofibromatosis type 1 (NFl) gene expression in pheochromocytoma from patients without NFL Genes Chromo-som Cancer 1995; 13:104-109.
18. Plouin PF, Duclos JM, Menard J, Comoy E, Bohuon C, Alexandre JM: Biochemical tests for diagnosis of phaeochromocytoma: urinary versus plasma determinations, Br Med J 1981; 282:853-854.
19. Plouin PF, Chatcllier G, Rougcot MA, Duclos JM, Pagny JY, Corvol P, Menard J: Recent developments in pheochromocytoma diagnosis and imaging, Adv Nephrol 1988;17:275-286.
20. Heron E, Chatcllier G, Billaud E, Foos E, Plouin PF: The urinary mctanephrine to creatinine ratio in the diagnosis of phcochromocytoma, Ann Intern Med 1996:125:300-303.
21. Barbot N, Calmettes C, SchufTcneckcr I, Saint-Andre JP, Franc B, Rohmer V, Jallet P, Big-orgne JC: Pcnlagastrin stimulation test and early diagnosis of medullary thyroid carcinoma using an immunoradiometric assay of calcitonin: Comparison with genetic screening in hereditary medullary thyroid carcinoma, J Clin Endocrinol Metab 1994:78:114-120.
22. Sambrook J, Fritsch EF, Maniatis T: Molecular Cloning, A Laboratory Manual, ed 2. Cold Spring Harbor, Cold Spring Harbor Laboratory Press, 1989.
23. Schuffenecker I, Billaud M, Calender A, Chambc B, Ginct N, Calmettes C, Modigliani E, Lenoir G and the GETC: RET protooncogene mutations in French MEN 2A and FMTC families, Hum Mol Genet 1994; 11:1939- 1943.
24. Ceccherini I, Hofstra RM, Luo Y, Stulp RP, Barone V, Stelwagen T, Bocciardi R, Nijveen H, Bolino A, Seri M, et al: DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene, Oncogene 1995:10:1257.
25. Casanova S, Rosenberg-Bourgin M, Farkas D, Calmettes C, Fcingold N, Hcshmati HM, Cohen R, Conte Devolx B, Guillausseau PJ, Hou-dent C, Bigorgne JC, Boiteau V, Caron J, Modigliani E: Phaeochromocytoma in multiple endocrine neoplasia type 2A: Survey of 100 cases, Clin Endocrinol 1993:38:531-537.
26. Carlson KM, Bracamontes J, Jackson CF, Clark R, Lacroix A, Wells SA Jr., Goodfcllow PJ: Parent-of-origin effects in multiple endocrine neoplasia type 2B, Am J Hum Genet 1994;55:1076-1082.
27. Marsh DJ, Mcdowall D, Hyland VJ, Andrew SD, Schnitzlcr M, Gaskin EL, Nevell DF, Diamond T, Delbridge L, Cliftonbligh P, Robinson BG: The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families, Clin Endocrinol 1996:44:213-220.
28. Zhou S, Carrawav KL, Eck MJ, Harrison SC, Feldman RA, Mohammadi M, Schlessin-ger J, Hubbard SR, Smith DP, Eng C, et al: Catalytic specificity of protein-tyrosine kinases is critical for selective signalling, Nature 1995: 373:536-539.
29. Zedenius J, Larsson C, Bcrgholm U, Bovee J, Svensson A, Hallengrcn B, Grintelius L, Back-dahl M, Weber G, Wallin G: Mutations of codon 918 in the RET protooncogenc correlate to poor prognosis in sporadic medullary thyroid carcinomas, J Clin Endocrinol Metab 1995:80:3088-3090.