Skip to main content
PMC home page
The American Journal of Pathology logoLink to The American Journal of Pathology
. 1995 Dec;147(6):1539–1544.

RET proto-oncogene mutations and rearrangements in endocrine diseases.

R V Lloyd 1
PMCID: PMC1869968  PMID: 7495277

Full text

PDF
1539

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Arnold A., Kim H. G., Gaz R. D., Eddy R. L., Fukushima Y., Byers M. G., Shows T. B., Kronenberg H. M. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest. 1989 Jun;83(6):2034–2040. doi: 10.1172/JCI114114. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Blaugrund J. E., Johns M. M., Jr, Eby Y. J., Ball D. W., Baylin S. B., Hruban R. H., Sidransky D. RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. Hum Mol Genet. 1994 Oct;3(10):1895–1897. doi: 10.1093/hmg/3.10.1895. [DOI] [PubMed] [Google Scholar]
  3. Bongarzone I., Butti M. G., Coronelli S., Borrello M. G., Santoro M., Mondellini P., Pilotti S., Fusco A., Della Porta G., Pierotti M. A. Frequent activation of ret protooncogene by fusion with a new activating gene in papillary thyroid carcinomas. Cancer Res. 1994 Jun 1;54(11):2979–2985. [PubMed] [Google Scholar]
  4. Bongarzone I., Monzini N., Borrello M. G., Carcano C., Ferraresi G., Arighi E., Mondellini P., Della Porta G., Pierotti M. A. Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase A. Mol Cell Biol. 1993 Jan;13(1):358–366. doi: 10.1128/mcb.13.1.358. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bongarzone I., Pierotti M. A., Monzini N., Mondellini P., Manenti G., Donghi R., Pilotti S., Grieco M., Santoro M., Fusco A. High frequency of activation of tyrosine kinase oncogenes in human papillary thyroid carcinoma. Oncogene. 1989 Dec;4(12):1457–1462. [PubMed] [Google Scholar]
  6. Carlson K. M., Dou S., Chi D., Scavarda N., Toshima K., Jackson C. E., Wells S. A., Jr, Goodfellow P. J., Donis-Keller H. 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 U S A. 1994 Feb 15;91(4):1579–1583. doi: 10.1073/pnas.91.4.1579. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Carson E. B., McMahon M., Baylin S. B., Nelkin B. D. Ret gene silencing is associated with Raf-1-induced medullary thyroid carcinoma cell differentiation. Cancer Res. 1995 May 15;55(10):2048–2052. [PubMed] [Google Scholar]
  8. Ceccherini I., Bocciardi R., Luo Y., Pasini B., Hofstra R., Takahashi M., Romeo G. Exon structure and flanking intronic sequences of the human RET proto-oncogene. Biochem Biophys Res Commun. 1993 Nov 15;196(3):1288–1295. doi: 10.1006/bbrc.1993.2392. [DOI] [PubMed] [Google Scholar]
  9. Ceccherini I., Romei C., Barone V., Pacini F., Martino E., Loviselli A., Pinchera A., Romeo G. Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J Endocrinol Invest. 1994 Mar;17(3):201–204. doi: 10.1007/BF03347719. [DOI] [PubMed] [Google Scholar]
  10. DeLellis R. A. Multiple endocrine neoplasia syndromes revisited. Clinical, morphologic, and molecular features. Lab Invest. 1995 May;72(5):494–505. [PubMed] [Google Scholar]
  11. Donghi R., Sozzi G., Pierotti M. A., Biunno I., Miozzo M., Fusco A., Grieco M., Santoro M., Vecchio G., Spurr N. K. 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 Apr;4(4):521–523. [PubMed] [Google Scholar]
  12. Donis-Keller H., Dou S., Chi D., Carlson K. M., Toshima K., Lairmore T. C., Howe J. R., Moley J. F., Goodfellow P., Wells S. A., Jr Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet. 1993 Jul;2(7):851–856. doi: 10.1093/hmg/2.7.851. [DOI] [PubMed] [Google Scholar]
  13. Edery P., Lyonnet S., Mulligan L. M., Pelet A., Dow E., Abel L., Holder S., Nihoul-Fékété C., Ponder B. A., Munnich A. Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature. 1994 Jan 27;367(6461):378–380. doi: 10.1038/367378a0. [DOI] [PubMed] [Google Scholar]
  14. Eng C., Mulligan L. M., Smith D. P., Healey C. S., Frilling A., Raue F., Neumann H. P., Pfragner R., Behmel A., Lorenzo M. J. Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer. 1995 Mar;12(3):209–212. doi: 10.1002/gcc.2870120308. [DOI] [PubMed] [Google Scholar]
  15. Eng C., Smith D. P., Mulligan L. M., Healey C. S., Zvelebil M. J., Stonehouse T. J., Ponder M. A., Jackson C. E., Waterfield M. D., Ponder B. A. A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene. 1995 Feb 2;10(3):509–513. [PubMed] [Google Scholar]
  16. Eng C., Smith D. P., Mulligan L. M., Nagai M. A., Healey C. S., Ponder M. A., Gardner E., Scheumann G. F., Jackson C. E., Tunnacliffe A. 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 Feb;3(2):237–241. doi: 10.1093/hmg/3.2.237. [DOI] [PubMed] [Google Scholar]
  17. Gopas J., Ono M., Princler G., Smith M. R., Tainsky M. A., Siddiqui M. A., Wishniak O., Segal S., Kuwano M., Kung H. F. EGF receptor activity and mitogenic response of Balb/3T3 cells expressing Ras and Myc oncogenes. EGF receptor activity in oncogene transformed cells. Cell Mol Biol. 1992 Sep;38(6):605–614. [PubMed] [Google Scholar]
  18. Greco A., Pierotti M. A., Bongarzone I., Pagliardini S., Lanzi C., Della Porta G. TRK-T1 is a novel oncogene formed by the fusion of TPR and TRK genes in human papillary thyroid carcinomas. Oncogene. 1992 Feb;7(2):237–242. [PubMed] [Google Scholar]
  19. Grieco M., Santoro M., Berlingieri M. T., Melillo R. M., Donghi R., Bongarzone I., Pierotti M. A., Della Porta G., Fusco A., Vecchio G. PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell. 1990 Feb 23;60(4):557–563. doi: 10.1016/0092-8674(90)90659-3. [DOI] [PubMed] [Google Scholar]
  20. Hofstra R. M., Landsvater R. M., Ceccherini I., Stulp R. P., Stelwagen T., Luo Y., Pasini B., Höppener J. W., van Amstel H. K., Romeo G. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 1994 Jan 27;367(6461):375–376. doi: 10.1038/367375a0. [DOI] [PubMed] [Google Scholar]
  21. Ito T., Seyama T., Iwamoto K. S., Hayashi T., Mizuno T., Tsuyama N., Dohi K., Nakamura N., Akiyama M. In vitro irradiation is able to cause RET oncogene rearrangement. Cancer Res. 1993 Jul 1;53(13):2940–2943. [PubMed] [Google Scholar]
  22. Johnston M. C., Vig K. W., Ambrose L. J. Neurocristopathy as a unifying concept: clinical correlations. Adv Neurol. 1981;29:97–104. [PubMed] [Google Scholar]
  23. Knudson A. G. Antioncogenes and human cancer. Proc Natl Acad Sci U S A. 1993 Dec 1;90(23):10914–10921. doi: 10.1073/pnas.90.23.10914. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. Komminoth P., Kunz E. K., Matias-Guiu X., Hiort O., Christiansen G., Colomer A., Roth J., Heitz P. U. Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer. 1995 Aug 1;76(3):479–489. doi: 10.1002/1097-0142(19950801)76:3<479::aid-cncr2820760319>3.0.co;2-m. [DOI] [PubMed] [Google Scholar]
  25. Komminoth P., Kunz E., Hiort O., Schröder S., Matias-Guiu X., Christiansen G., Roth J., Heitz P. U. Detection of RET proto-oncogene point mutations in paraffin-embedded pheochromocytoma specimens by nonradioactive single-strand conformation polymorphism analysis and direct sequencing. Am J Pathol. 1994 Oct;145(4):922–929. [PMC free article] [PubMed] [Google Scholar]
  26. Komminoth Paul, Muletta-Feurer Seraina, Saremaslani Parvin, Kunz Eva K., Matias-Guiu Xavier, Hiort Olaf, Schroder Soren, Seelentag Walter K. F., Roth Jurgen, Heitz Philipp U. Molecular Diagnosis of Multiple Endocrine Neoplasia (MEN) in Paraffin-Embedded Specimens. Endocr Pathol. 1995 Winter;6(4):267–278. doi: 10.1007/BF02738727. [DOI] [PubMed] [Google Scholar]
  27. Kuma K., Iwabe N., Miyata T. Motifs of cadherin- and fibronectin type III-related sequences and evolution of the receptor-type-protein tyrosine kinases: sequence similarity between proto-oncogene ret and cadherin family. Mol Biol Evol. 1993 May;10(3):539–551. doi: 10.1093/oxfordjournals.molbev.a040033. [DOI] [PubMed] [Google Scholar]
  28. Kwok J. B., Gardner E., Warner J. P., Ponder B. A., Mulligan L. M. Structural analysis of the human ret proto-oncogene using exon trapping. Oncogene. 1993 Sep;8(9):2575–2582. [PubMed] [Google Scholar]
  29. Lindor N. M., Honchel R., Khosla S., Thibodeau S. N. Mutations in the RET protooncogene in sporadic pheochromocytomas. J Clin Endocrinol Metab. 1995 Feb;80(2):627–629. doi: 10.1210/jcem.80.2.7852530. [DOI] [PubMed] [Google Scholar]
  30. Lips C. J., Landsvater R. M., Höppener J. W., Geerdink R. A., Blijham G., van Veen J. M., van Gils A. P., de Wit M. J., Zewald R. A., Berends M. J. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 1994 Sep 29;331(13):828–835. doi: 10.1056/NEJM199409293311302. [DOI] [PubMed] [Google Scholar]
  31. Lyonnet S., Bolino A., Pelet A., Abel L., Nihoul-Fékété C., Briard M. L., Mok-Siu V., Kaariainen H., Martucciello G., Lerone M. A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10. Nat Genet. 1993 Aug;4(4):346–350. doi: 10.1038/ng0893-346. [DOI] [PubMed] [Google Scholar]
  32. Mole S. E., Mulligan L. M., Healey C. S., Ponder B. A., Tunnacliffe A. Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. Hum Mol Genet. 1993 Mar;2(3):247–252. doi: 10.1093/hmg/2.3.247. [DOI] [PubMed] [Google Scholar]
  33. Motokura T., Arnold A. Cyclin D and oncogenesis. Curr Opin Genet Dev. 1993 Feb;3(1):5–10. doi: 10.1016/s0959-437x(05)80334-x. [DOI] [PubMed] [Google Scholar]
  34. Mulligan L. M., Eng C., Healey C. S., Clayton D., Kwok J. B., Gardner E., Ponder M. A., Frilling A., Jackson C. E., Lehnert H. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 1994 Jan;6(1):70–74. doi: 10.1038/ng0194-70. [DOI] [PubMed] [Google Scholar]
  35. Mulligan L. M., Kwok J. B., Healey C. S., Elsdon M. J., Eng C., Gardner E., Love D. R., Mole S. E., Moore J. K., Papi L. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993 Jun 3;363(6428):458–460. doi: 10.1038/363458a0. [DOI] [PubMed] [Google Scholar]
  36. Mulligan L. M., Ponder B. A. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 1995 Jul;80(7):1989–1995. doi: 10.1210/jcem.80.7.7608246. [DOI] [PubMed] [Google Scholar]
  37. Nagao M., Ishizaka Y., Nakagawara A., Kohno K., Kuwano M., Tahira T., Itoh F., Ikeda I., Sugimura T. Expression of ret proto-oncogene in human neuroblastomas. Jpn J Cancer Res. 1990 Apr;81(4):309–312. doi: 10.1111/j.1349-7006.1990.tb02566.x. [DOI] [PMC free article] [PubMed] [Google Scholar]
  38. Pachnis V., Mankoo B., Costantini F. Expression of the c-ret proto-oncogene during mouse embryogenesis. Development. 1993 Dec;119(4):1005–1017. doi: 10.1242/dev.119.4.1005. [DOI] [PubMed] [Google Scholar]
  39. Santoro M., Carlomagno F., Romano A., Bottaro D. P., Dathan N. A., Grieco M., Fusco A., Vecchio G., Matoskova B., Kraus M. H. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science. 1995 Jan 20;267(5196):381–383. doi: 10.1126/science.7824936. [DOI] [PubMed] [Google Scholar]
  40. Santoro M., Rosati R., Grieco M., Berlingieri M. T., D'Amato G. L., de Franciscis V., Fusco A. The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas. Oncogene. 1990 Oct;5(10):1595–1598. [PubMed] [Google Scholar]
  41. Schuchardt A., D'Agati V., Larsson-Blomberg L., Costantini F., Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 1994 Jan 27;367(6461):380–383. doi: 10.1038/367380a0. [DOI] [PubMed] [Google Scholar]
  42. Sozzi G., Bongarzone I., Miozzo M., Borrello M. G., Blutti M. G., Pilotti S., Della Porta G., Pierotti M. A. A t(10;17) translocation creates the RET/PTC2 chimeric transforming sequence in papillary thyroid carcinoma. Genes Chromosomes Cancer. 1994 Apr;9(4):244–250. doi: 10.1002/gcc.2870090404. [DOI] [PubMed] [Google Scholar]
  43. Tahira T., Ishizaka Y., Itoh F., Sugimura T., Nagao M. Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line. Oncogene. 1990 Jan;5(1):97–102. [PubMed] [Google Scholar]
  44. Takahashi M., Buma Y., Iwamoto T., Inaguma Y., Ikeda H., Hiai H. Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene. 1988 Nov;3(5):571–578. [PubMed] [Google Scholar]

Articles from The American Journal of Pathology are provided here courtesy of American Society for Investigative Pathology

RESOURCES