Chromosome 10 and RET gene copy number alterations in hereditary and sporadic Medullary Thyroid Carcinoma

Molecular and Cellular Endocrinology

Volumn 348, Issue 1, 2012, Pages 176-182

  Ciampi, Raffaele ^a   Romei, Cristina ^a   Cosci, Barbara ^a   Vivaldi, Agnese ^a   Bottici, Valeria ^a   Renzini, Giulia ^a   Ugolini, Clara ^a   Tacito, Alessia ^a   Basolo, Fulvio ^a   Pinchera, Aldo ^a   Elisei, Rossella ^a  

^a UNIVERSITY HOSPITAL OF PISA   (Italy)

Author keywords

Aneuploidy; FISH; Medullary Thyroid Carcinoma; RET; RET mutation

Indexed keywords

ADVANCED CANCER; ALLELE; ANEUPLOIDY; ARTICLE; CELL HETEROGENEITY; CHROMOSOME 10; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE AMPLIFICATION; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PRIORITY JOURNAL; PROGNOSIS; RET GENE; THYROID MEDULLARY CARCINOMA; WILD TYPE;

ADULT; AGED; CARCINOMA, MEDULLARY; CHROMOSOMES, HUMAN, PAIR 10; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HEREDITY; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MIDDLE AGED; MULTIVARIATE ANALYSIS; MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS; YOUNG ADULT;

EID: 80755188920     PISSN: 03037207     EISSN: 18728057     Source Type: Journal    
DOI: 10.1016/j.mce.2011.08.004     Document Type: Article

References (30)

1. Cappuzzo F., Hirsch F.R., Rossi E., Bartolini S., Ceresoli G.L., Bemis L., Haney J., Witta S., Danenberg K., Domenichini I., Ludovini V., Magrini E., Gregorc V., Doglioni C., Sidoni A., Tonato M., Franklin W.A., Crino L., Bunn P.A., Varella-Garcia M. Epidermal growth factor receptor gene and protein and gefitinib sensitivity in non-small-cell lung cancer. J. Natl. Cancer Inst. 2005, 97:643-655.
2. Cerrato A., De Falco V., Santoro M. Molecular genetics of medullary thyroid carcinoma: the quest for novel therapeutic targets. J. Mol. Endocrinol. 2009.
3. Chen X., Mitsutake N., LaPerle K., Akeno N., Zanzonico P., Longo V.A., Mitsutake S., Kimura E.T., Geiger H., Santos E., Wendel H.G., Franco A., Knauf J.A., Fagin J.A. Endogenous expression of Hras(G12V) induces developmental defects and neoplasms with copy number imbalances of the oncogene. Proc. Natl. Acad. Sci. USA 2009, 106:7979-7984.
4. Drosten M., Putzer B.M. Mechanisms of disease: cancer targeting and the impact of oncogenic RET for medullary thyroid carcinoma therapy. Nat. Clin. Pract. Oncol. 2006, 3:564-574.
5. Elisei R. Routine serum calcitonin measurement in the evaluation of thyroid nodules. Best Pract. Res. Clin. Endocrinol. Metab. 2008, 22:941-953.
6. Elisei R., Cosci B., Romei C., Agate L., Piampiani P., Miccoli P., Berti P., Basolo F., Ugolini C., Ciampi R., Nikiforov Y., Pinchera A. Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition. J. Clin. Endocrinol. Metab. 2004, 89:5823-5827.
7. Elisei R., Romei C., Cosci B., Agate L., Bottici V., Molinaro E., Sculli M., Miccoli P., Basolo F., Grasso L., Pacini F., Pinchera A. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center. J. Clin. Endocrinol. Metab. 2007, 92:4725-4729.
8. Elisei R., Cosci B., Romei C., Bottici V., Renzini G., Molinaro E., Agate L., Vivaldi A., Faviana P., Basolo F., Miccoli P., Berti P., Pacini F., Pinchera A. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J. Clin. Endocrinol. Metab. 2008, 93:682-687.
9. Eng C., Mulligan L.M., Healey C.S., Houghton C., Frilling A., Raue F., Thomas G.A., Ponder B.A. Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res. 1996, 56:2167-2170.
10. Frisk T., Zedenius J., Lundberg J., Wallin G., Kytola S., Larsson C. CGH alterations in medullary thyroid carcinomas in relation to the RET M918T mutation and clinical outcome. Int. J. Oncol. 2001, 18:1219-1225.
11. Greene F.L., American Joint Committee on Cancer A.C.S. AJCC cancer staging handbook: from the AJCC cancer staging manual 2002, Springer-Verlag, New York.
12. Hemmer S., Wasenius V.M., Knuutila S., Franssila K., Joensuu H. DNA copy number changes in thyroid carcinoma. Am. J. Pathol. 1999, 154:1539-1547.
13. Hirsch F.R., Varella-Garcia M., Bunn P.A., Di Maria M.V., Veve R., Bremmes R.M., Baron A.E., Zeng C., Franklin W.A. Epidermal growth factor receptor in non-small-cell lung carcinomas: correlation between gene copy number and protein expression and impact on prognosis. J. Clin. Oncol. 2003, 21:3798-3807.
14. Huang S.C., Koch C.A., Vortmeyer A.O., Pack S.D., Lichtenauer U.D., Mannan P., Lubensky I.A., Chrousos G.P., Gagel R.F., Pacak K., Zhuang Z. Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res. 2000, 60:6223-6226.
15. Huang S.C., Torres-Cruz J., Pack S.D., Koch C.A., Vortmeyer A.O., Mannan P., Lubensky I.A., Gagel R.F., Zhuang Z. Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma. J. Clin. Endocrinol. Metab. 2003, 88:459-463.
16. Khosla S., Patel V.M., Hay I.D., Schaid D.J., Grant C.S., van Heerden J.A., Thibodeau S.N. Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. J. Clin. Invest. 1991, 87:1691-1699.
17. Koch C.A., Huang S.C., Moley J.F., Azumi N., Chrousos G.P., Gagel R.F., Zhuang Z., Pacak K., Vortmeyer A.O. Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma. Oncogene 2001, 20:7809-7811.
18. Koch C.A., Brouwers F.M., Vortmeyer A.O., Tannapfel A., Libutti S.K., Zhuang Z., Pacak K., Neumann H.P., Paschke R. Somatic VHL gene alterations in MEN2-associated medullary thyroid carcinoma. BMC Cancer 2006, 6:131.
19. Kouvaraki M.A., Shapiro S.E., Perrier N.D., Cote G.J., Gagel R.F., Hoff A.O., Sherman S.I., Lee J.E., Evans D.B. RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors. Thyroid 2005, 15:531-544.
20. Li R., Yerganian G., Duesberg P., Kraemer A., Willer A., Rausch C., Hehlmann R. Aneuploidy correlated 100% with chemical transformation of Chinese hamster cells. Proc. Natl. Acad. Sci. USA 1997, 94:14506-14511.
21. Li R., Sonik A., Stindl R., Rasnick D., Duesberg P. Aneuploidy vs. gene mutation hypothesis of cancer: recent study claims mutation but is found to support aneuploidy. Proc. Natl. Acad. Sci. USA 2000, 97:3236-3241.
22. Liu Z., Hou P., Ji M., Guan H., Studeman K., Jensen K., Vasko V., El-Naggar A.K., Xing M. Highly prevalent genetic alterations in receptor tyrosine kinases and phosphatidylinositol 3-kinase/akt and mitogen-activated protein kinase pathways in anaplastic and follicular thyroid cancers. J. Clin. Endocrinol. Metab. 2008, 93:3106-3116.
23. Marsh D.J., Theodosopoulos G., Martin-Schulte K., Richardson A.L., Philips J., Roher H.D., Delbridge L., Robinson B.G. Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma. J. Clin. Endocrinol. Metab. 2003, 88:1866-1872.
24. Moura M.M., Cavaco B.M., Pinto A.E., Domingues R., Santos J.R., Cid M.O., Bugalho M.J., Leite V. Correlation of RET somatic mutations with clinicopathological features in sporadic medullary thyroid carcinomas. Br. J. Cancer 2009, 100:1777-1783.
25. Moura M.M., Cavaco B.M., Pinto A.E., Leite V. High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J. Clin. Endocrinol. Metab. 2011, 96:E863-868.
26. Mulligan L.M., Gardner E., Smith B.A., Mathew C.G., Ponder B.A. Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer 1993, 6:166-177.
27. Rasnick D., Duesberg P.H. How aneuploidy affects metabolic control and causes cancer. Biochem. J. 1999, 340(Pt 3):621-630.
28. Taruscio D., Carcangiu M.L., Ried T., Ward D.C. Numerical chromosomal aberrations in thyroid tumors detected by double fluorescence in situ hybridization. Genes Chromosomes Cancer 1994, 9:180-185.
29. Ye L., Santarpia L., Cote G.J., El-Naggar A.K., Gagel R.F. High resolution array-comparative genomic hybridization profiling reveals deoxyribonucleic acid copy number alterations associated with medullary thyroid carcinoma. J. Clin. Endocrinol. Metab. 2008, 93:4367-4372.
30. Zhu Z., Ciampi R., Nikiforova M.N., Gandhi M., Nikiforov Y.E. Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity. J. Clin. Endocrinol. Metab. 2006, 91:3603-3610.