Genetic alterations involved in the transition from well-differentiated to poorly differentiated and anaplastic thyroid carcinomas

Endocrine Pathology

Volumn 15, Issue 4, 2004, Pages 319-327

  Nikiforov, Yuri E ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Anaplastic carcinoma; BRAF; Dedifferentiation; Follicular carcinoma; p53; Papillary carcinoma; PAX8 PPAR ; Poorly differentiated thyroid carcinoma; RAS; RET PTC

Indexed keywords

B RAF KINASE; BETA CATENIN; MUTANT PROTEIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PROTEIN P53; PROTEIN PATCHED; PROTEIN RET; TRANSCRIPTION FACTOR PAX8;

ANAPLASTIC CARCINOMA; CANCER GENETICS; CANCER GROWTH; CANCER SUSCEPTIBILITY; CARCINOGENESIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; GENE REARRANGEMENT; HETEROZYGOSITY LOSS; HISTOLOGY; HUMAN; INCIDENCE; MOUSE; NONHUMAN; ONCOGENE RAS; POINT MUTATION; PRIORITY JOURNAL; THYROID CARCINOMA; THYROID FOLLICULAR CARCINOMA; THYROID PAPILLARY CARCINOMA; TUMOR DIFFERENTIATION;

ADENOCARCINOMA, FOLLICULAR; ADENOCARCINOMA, PAPILLARY; CARCINOMA; CELL TRANSFORMATION, NEOPLASTIC; DNA-BINDING PROTEINS; GENES, P53; GENES, RAS; NUCLEAR PROTEINS; ONCOGENE PROTEINS; ONCOGENE PROTEINS, FUSION; POINT MUTATION; PPAR GAMMA; PROTEIN-TYROSINE KINASES; PROTO-ONCOGENE PROTEINS B-RAF; THYROID NEOPLASMS; TRANS-ACTIVATORS;

EID: 13444311710     PISSN: 10463976     EISSN: None     Source Type: Journal    
DOI: 10.1385/EP:15:4:319     Document Type: Conference Paper

References (65)

1. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 417:949-954, 2002.
2. Kimura ET, Nikiforova MN, Zhu Z, et al. High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 63:1454-1457, 2003.
3. Cohen Y, Xing M, Mambo E, et al. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 95:625-627, 2003.
4. Xu X, Quiros RM, Gattuso P, et al. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 63:4561-4567, 2003.
5. Soares P, Trovisco V, Rocha AS, et al. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene 22:4578-4580, 2003.
6. Fukushima T, Suzuki S, Mashiko M, et al. BRAF mutations in papillary carcinomas of the thyroid. Oncogene 22:6455-6457, 2003.
7. Namba H, Nakashima M, Hayashi T, et al. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab 88:4393-4397, 2003.
8. Nikiforova MN, Kimura ET, Gandhi M, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 88:5399-5404, 2003.
9. Lemoine NR, Mayall ES, Wyllie FS, et al. High frequency of ras oncogene activation in all stages of human thyroid tumorigenesis. Oncogene 4:159-164, 1989.
10. Namba H, Gutman RA, Matsuo K, et al. H-ras protooncogene mutations in human thyroid neoplasms. J Clin Endocrinol Metab 71:223-229, 1990.
11. Suarez HG, du Villard JA, Severino M, et al. Presence of mutations in all three ras genes in human thyroid tumors. Oncogene 5:565-570, 1990.
12. Karga H, Lee JK, Vickery AL, Jr, et al. Ras oncogene mutations in benign and malignant thyroid neoplasms. J Clin Endocrinol Metab 73:832-836, 1991.
13. Manenti G, Pilotti S, Re FC, et al. Selective activation of ras oncogenes in follicular and undifferentiated thyroid carcinomas. Eur J Cancer 30A:987-993, 1994.
14. Hara H, Fulton N, Yashiro T, et al. N-ras mutation: an independent prognostic factor for aggressiveness of papillary thyroid carcinoma. Surgery 116:1010-1016, 1994.
15. Ezzat S, Zheng L, Kolenda J, et al. Prevalence of activating ras mutations in morphologically characterized thyroid nodules. Thyroid 6:409-416, 1996.
16. Esapa CT, Johnson SJ, Kendall-Taylor P, et al. Prevalence of Ras mutations in thyroid neoplasia. Clin Endocrinol (Oxf) 50:529-535, 1999.
17. Basolo F, Pisaturo F, Pollina LE, et al. N-ras mutation in poorly differentiated thyroid carcinomas: correlation with bone metastases and inverse correlation to thyroglobulin expression. Thyroid 10:19-23, 2000.
18. Motoi N, Sakamoto A, Yamochi T, et al. Role of ras mutation in the progression of thyroid carcinoma of follicular epithelial origin. Pathol Res Pract 196:1-7, 2000.
19. Garcia-Rostan G, Zhao H, Camp RL, et al. ras mutations are associated with aggressive tumor phenotypes and poor prognosis in thyroid cancer. J Clin Oncol 21:3226-3235, 2003.
20. Bond JA, Wyllie FS, Rowson J, et al. In vitro reconstruction of tumour initiation in a human epithelium. Oncogene 9:281-290, 1994.
21. Monaco C, Califano D, Chiappetta G, et al. Mutated human Kirsten ras, driven by a thyroglobulin promoter, induces a growth advantage and partially dedifferentiates rat thyroid epithelial cells in vitro. Int J Cancer 63:757-760, 1995.
22. Portella G, Vitagliano D, Borselli C, et al. Human N-ras, TRK-T1, and RET/PTC3 oncogenes, driven by a thyroglobulin promoter, differently affect the expression of differentiation markers and the proliferation of thyroid epithelial cells. Oncol Res 11:421-427, 1999.
23. Santelli G, de Franciscis V, Portella G, et al. Production of transgenic mice expressing the Ki-ras oncogene under the control of a thyroglobulin promoter. Cancer Res 53:5523-5527, 1993.
24. Rochefort P, Caillou B, Michiels FM, et al. Thyroid pathologies in transgenic mice expressing a human activated Ras gene driven by a thyroglobulin promoter. Oncogene 12:111-118, 1996.
25. Saavedra HI, Knauf JA, Shirokawa JM, et al. The RAS oncogene induces genomic instability in thyroid PCCL3 cells via the MAPK pathway. Oncogene 19:3948-3954, 2000.
26. Asakawa H, Kobayashi T. Multistep carcinogenesis in anaplastic thyroid carcinoma: a case report. Pathology 34:94-97, 2002.
27. Nikiforov YE. RET/PTC rearrangement in thyroid tumors. Endocr Pathol 13:3-16, 2002.
28. Tallini G, Asa SL. RET oncogene activation in papillary thyroid carcinoma. Adv Anat Pathol 8:345-354, 2001.
29. Santoro M, Carlomagno F, Hay ID, et al. Ret oncogene activation in human thyroid neoplasms is restricted to the papillary cancer subtype. J Clin Invest 89:1517-1522, 1992.
30. Wynford-Thomas D. In vitro models of thyroid cancer. Cancer Surv 16:115-134, 1993.
31. Tallini G, Santoro M, Helie M, et al. RET/ PTC oncogene activation defines a subset of papillary thyroid carcinomas lacking evidence of progression to poorly differentiated or undifferentiated tumor phenotypes. Clin Cancer Res 4:287-294, 1998.
32. Nikiforov YE (unpublished).
33. Santoro M, Papotti M, Chiappetta G, et al. RET activation and clinicopathologic features in poorly differentiated thyroid tumors. J Clin Endocrinol Metab 87:370-379, 2002.
34. Kroll TG, Sarraf P, Pecciarini L, et al. PAX8-PPARgamma1 fusion oncogene in human thyroid carcinoma [corrected]. Science 289:1357-1360, 2000.
35. Ying H, Suzuki H, Zhao L, et al. Mutant thyroid hormone receptor beta represses the expression and transcriptional activity of peroxisome proliferator-activated receptor gamma during thyroid carcinogenesis. Cancer Res 63:5274-5280, 2003.
36. Marques AR, Espadinha C, Catarino AL, et al. Expression of PAX8-PPAR gamma 1 rearrangements in both follicular thyroid carcinomas and adenomas. J Clin Endocrinol Metab 87:3947-3952, 2002.
37. Nikiforova MN, Biddinger PW, Caudill CM, et al. PAX8-PPARgamma rearrangement in thyroid tumors: RT-PCR and immunohistochemical analyses. Am J Surg Pathol 26:1016-1023, 2002.
38. Cheung L, Messina M, Gill A, et al. Detection of the PAX8-PPAR gamma fusion oncogene in both follicular thyroid carcinomas and adenomas. J Clin Endocrinol Metab 88:354-357, 2003.
39. French CA, Alexander EK, Cibas ES, et al. Genetic and biological subgroups of low-stage follicular thyroid cancer. Am J Pathol 162:1053-1060, 2003.
40. Dwight T, Thoppe SR, Foukakis T, et al. Involvement of the PAX8/peroxisome proliferator-activated receptor gamma rearrangement in follicular thyroid tumors. J Clin Endocrinol Metab 88:4440-4445, 2003.
41. Nakamura T, Yana I, Kobayashi T, et al. p53 gene mutations associated with anaplastic transformation of human thyroid carcinomas. Jpn J Cancer Res 83:1293-1298, 1992.
42. Fagin JA, Matsuo K, Karmakar A, et al. High prevalence of mutations of the p53 gene in poorly differentiated human thyroid carcinomas. J Clin Invest 91:179-184, 1993.
43. Donghi R, Longoni A, Pilotti S, et al. Gene p53 mutations are restricted to poorly differentiated and undifferentiated carcinomas of the thyroid gland. J Clin Invest 91:1753-1760, 1993.
44. Ito T, Seyama T, Mizuno T, et al. Genetic alterations in thyroid tumor progression: association with p53 gene mutations. Jpn J Cancer Res 84:526-531, 1993.
45. Zou M, Shi Y, Farid NR. p53 mutations in all stages of thyroid carcinomas. J Clin Endocrinol Metab 77:1054-1058, 1993.
46. Dobashi Y, Sugimura H, Sakamoto A, et al. Stepwise participation of p53 gene mutation during dedifferentiation of human thyroid carcinomas. Diagn Mol Pathol 3:9-14, 1994.
47. Ho YS, Tseng SC, Chin TY, et al. p53 gene mutation in thyroid carcinoma. Cancer Lett 103:57-63, 1996.
48. Takeuchi Y, Daa T, Kashima K, et al. Mutations of p53 in thyroid carcinoma with an insular component. Thyroid 9:377-381, 1999.
49. Carcangiu ML, Zampi G, Rosai J. Poorly differentiated ("insular") thyroid carcinoma. A reinterpretation of Langhans' "wuchernde Struma." Am J Surg Pathol 8:655-668, 1984.
50. Matias-Guiu X, Villanueva A, Cuatrecasas M, et al. p53 in a thyroid follicular carcinoma with foci of poorly differentiated and anaplastic carcinoma. Pathol Res Pract 192:1242-1249; discussion 1250-1241, 1996.
51. La Perle KM, Jhiang SM, Capen CC. Loss of p53 promotes anaplasia and local invasion in ret/PTC-induced thyroid carcinomas. Am J Pathol 157:671-677, 2000.
52. Powell Jr DJ, Russell JP, Li G, et al. Altered gene expression in immunogenic poorly differentiated thyroid carcinomas from RET/ PTC3p53-/- mice. Oncogene 20:3235-3246, 2001.
53. Moretti F, Farsetti A, Soddu S, et al. p53 re-expression inhibits proliferation and restores differentiation of human thyroid anaplastic carcinoma cells. Oncogene 14:729-740, 1997.
54. Fagin JA, Tang SH, Zeki K, et al. Reexpression of thyroid peroxidase in a derivative of an undifferentiated thyroid carcinoma cell line by introduction of wild-type p53. Cancer Res 56:765-771, 1996.
55. Van Aken E, De Wever O, Correia da Rocha AS, et al. Defective E-cadherin/catenin complexes in human cancer. Virchows Arch 439:725-751, 2001.
56. Garcia-Rostan G, Camp RL, Herrero A, et al. Beta-catenin dysregulation in thyroid neoplasms: down-regulation, aberrant nuclear expression, and CTNNB1 exon 3 mutations are markers for aggressive tumor phenotypes and poor prognosis. Am J Pathol 158:987-996, 2001.
57. Miyake N, Maeta H, Horie S, et al. Absence of mutations in the beta-catenin and adenomatous polyposis coli genes in papillary and follicular thyroid carcinomas. Pathol Int 51:680-685, 2001.
58. Rocha AS, Scares P, Fonseca E, et al. E-cadherin loss rather than beta-catenin alterations is a common feature of poorly differentiated thyroid carcinomas. Histopathology 42:580-587, 2003.
59. Ward LS, Brenta G, Medvedovic M, et al. Studies of allelic loss in thyroid tumors reveal major differences in chromosomal instability between papillary and follicular carcinomas. J Clin Endocrinol Metab 83:525-530, 1998.
60. Kleer CG, Bryant BR, Giordano TJ, et al. Genetic changes in chromosomes 1p and 17p in thyroid cancer progression. Endocr Pathol 11:137-143, 2000.
61. Kitamura Y, Shimizu K, Tanaka S, et al. Allelotyping of anaplastic thyroid carcinoma: frequent allelic losses on 1q, 9p, 11, 17, 19p, and 22q. Genes Chromosomes Cancer 27:244-251, 2000.
62. Hunt JL, Tometsko M, LiVolsi VA, et al. Molecular evidence of anaplastic transformation in coexisting well-differentiated and anaplastic carcinomas of the thyroid. Am J Surg Pathol 27:1559-1564, 2003.
63. Hemmer S, Wasenius VM, Knuutila S, et al. DNA copy number changes in thyroid carcinoma. Am J Pathol 154:1539-1547, 1999.
64. Wreesmann VB, Ghossein RA, Patel SG, et al. Genome-wide appraisal of thyroid cancer progression. Am J Pathol 161:1549-1556, 2002.
65. Santoro M, Melillo RM, Carlomagno F, et al. Molecular mechanisms of RET activation in human cancer. Ann NY Acad Sci 963:116-121, 2002.