Familial thyroid cancer: A review

Modern Pathology

Volumn 24, Issue , 2011, Pages S19-S33

  Nosé, Vânia ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Familial medullary thyroid carcinoma; Familial papillary thyroid carcinoma; Familial thyroid carcinoma

Indexed keywords

AGING; AMYLOIDOSIS; BREAST DISEASE; CARNEY COMPLEX; CATARACT; DESMOID TUMOR; DIABETES MELLITUS; ENDOCRINE CELL; EPIDERMOID CYST; FAMILIAL ADENOMATOUS POLYPOSI; FAMILIAL ADENOMATOUS POLYPOSIS; FAMILIAL DISEASE; FAMILIAL MEDULLARY THYROID CARCINOMA; FAMILIAL NON MEDULLARY THYROID CARCINOMA; GANGLIONEUROMA; GENETIC PREDISPOSITION; GENOTYPE PHENOTYPE CORRELATION; GOITER; HAMARTOMA; HEPATOBLASTOMA; HISTOPATHOLOGY; HUMAN; HYPERPARATHYROIDISM; HYPOPHYSIS ADENOMA; KERATOSIS; KIDNEY CARCINOMA; MEDULLOBLASTOMA; MELANOMA; MEN IIA SYNDROME; MEN IIB SYNDROME; MULTIPLE ENDOCRINE NEOPLASIA; MYXOMA; NEUROMA; ONSET AGE; OSTEOMA; OSTEOPOROSIS; OSTEOSARCOMA; PAPULE; PEUTZ JEGHERS SYNDROME; PHEOCHROMOCYTOMA; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PTEN HAMARTOMA TUMOR SYNDROME; REVIEW; SHORT STATURE; THYROID CANCER; THYROID CARCINOMA; THYROID FOLLICLE CELL; THYROID MEDULLARY CARCINOMA; TOOTH DISEASE; TRICHILEMMOMA; UTERUS DISEASE; WERNER SYNDROME;

ADENOCARCINOMA, FOLLICULAR; ADENOMATOUS POLYPOSIS COLI; CARCINOMA; CARCINOMA, PAPILLARY, FOLLICULAR; CARCINOMA, RENAL CELL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GOITER, NODULAR; HAMARTOMA SYNDROME, MULTIPLE; HUMANS; KIDNEY NEOPLASMS; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NEOPLASTIC SYNDROMES, HEREDITARY; THYROID NEOPLASMS;

EID: 79953301552     PISSN: 08933952     EISSN: 15300285     Source Type: Journal    
DOI: 10.1038/modpathol.2010.147     Document Type: Article

References (76)

1. Nosé V. Familial non-medullary thyroid carcinoma: an update. Endocr Pathol 2008;19:226-240.
2. Dotto J, Nosé V. Familial thyroid carcinoma: a diagnostic algorithm. Adv Anat Pathol 2008;15: 332-349.
3. Ries LAG, Melbert D, Krapcho M, et al. 2007 SEER Cancer Statistics Review, 1975-2004. National Cancer Institute: Bethesda, MD http://seer.cancer.gov/csr/1975_2004/, based on November 2006 SEER data submission, posted to the SEER web site.
4. Davies L, Welch HG. Increasing incidence of thyroid cancer in the United States, 1973-2002. JAMA 2006;295:2164-2167.
5. Leenhardt L, Grosclaude P, Cherie-Challine L. Increased incidence of thyroidcarcinoma in France: a true epidemic or thyroidnodule management effects? Report from the French Thyroid Cancer Committee. Thyroid 2004;14:1056-1060.
6. Hundahl SA, Fleming ID, Fremgen AM, et al. A National Cancer Data Base report on 53, 856 cases of thyroidcarcinoma treated in the U.S., 1985-1995 [see comments]. Cancer 2004;83:2638-2648.
7. DeLellis RA, Lloyd RV, Heitz PU, et al. World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Endocrine Organs. IARC Press: Lyon, 2004.
8. Mears L, Diaz-Cano SJ. Difference between familial and sporadic medullary thyroid carcinomas. Am J Surg Pathol 2003;27:266-267.
9. Wolfe HJ, DeLellis RA. Familial medullary thyroid carcinoma and C cell hyperplasia. Clin Endocrinol Metab 1981;10:351-365.
10. Perry A, Molberg K, Albores-Saavedra J. Physiologic versus neoplastic C-cell hyperplasia of the thyroid: separation of distinct histologic and biologic entities. Cancer 1996;77:750-756.
11. Chiefari E, Russo D, Giuffrida D, et al. Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma. J Endocrinol Invest 1998;21:358-364.
12. Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type2. International RET mutation consortium analysis. JAMA 1996;276:1575-1579.
13. Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung’s disease. N Engl J Med 1996;335:943-951.
14. Eng C, Mulligan LM, Healey CS, et al. Heterogeneous mutation of the RET proto-oncogene in subpopulations of medullary thyroid carcinoma. Cancer Res 1996; 56:2167-2170.
15. Hofstra RM, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994;367:375-376.
16. Komminoth P, Kunz EK, Matias-Guiu X, et al. Analysis of RET proto-oncogenepoint mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 1995;76:479-489.
17. Matias-Guiu X. RET protooncogene analysis in the diagnosis of medullary thyroid carcinoma and multiple endocrine neoplasia type II. Adv Anat Pathol 1998; 5:196-201.
18. Dvorakova S, Vaclavikova E, Sykorova V, et al. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinomas. Mol Cell Endocrinol 2008;284:21-27.
19. Elisei R, Cosci B, Romei C, et al. 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.
20. Kebebew E, Ituarte PH, Siperstein AE, et al. Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer 2000;88:1139-1148.
21. Machens A, Niccoli-Sire P, Hoegel J, et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 2003;349:1517-1525.
22. Romei C, Elisei R, Pinchera A, et al. Somatic mutations of the ret protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endocrinol Metab 1996;81:1619-1622.
23. Alsanea O, Clark OH. Familial thyroid cancer. Curr Opin Oncol 2001;13:44-45.
24. Charkes ND. On the prevalence of familial nonmedullary thyroid cancer in multiple affected kindreds. Thyroid 2006;16:181-186.
25. Hemminki K, Eng C, Chen B. Familial risks for nonmedullary thyroid cancer. J Clin Endocrinol Metab 2005;90:5747-5753.
26. Leprat F, Bonichon F, Guyot M, et al. Familial nonmedullary thyroid carcinoma: pathology review in 27 affected cases from 13 French families. Clin Endocrinol 1999;50:589-594.
27. Musholt TJ, Musholt PB, Petrich T, et al. Familial papillary thyroid carcinoma: genetics, criteria for diagnosis, clinical features, and surgical treatment. World J Surg 2000;24:1409-1417.
28. Ron E, Kleinerman RA, LiVolsi VA, et al. Familial nonmedullary thyroid cancer. Oncology 1991;48: 309-311.
29. Sturgeon C, Clark OH. Familial nonmedullary thyroid cancer. Thyroid 2005;15:588-593.
30. Uchino S, Noguchi S, Kawamoto H, et al. Familial nonmedullary thyroid carcinoma characterized by multifocality and a high recurrence rate in a large study population. World J Surg 2002;26:897-902.
31. Alsanea O, Wada N, Ain K, et al. Is familial nonmedullary thyroid carcinoma more aggressive than sporadic thyroid cancer? A multicenter series. Surgery 2000;128:1043-1050, discussion 1050-1051.
32. Grossman RF, Tu SH, Duh QY, et al. Familial nonmedullary thyroid cancer. An emerging entity that warrants aggressive treatment. Arch Surg 1995; 130:892-897; discussion 898-899.
33. Lupoli G, Vitale G, Caraglia M, et al. Familial papillary thyroid microcarcinoma: a new clinical entity. Lancet 1999;353:637-639.
34. Malchoff CD, Malchoff DM. Familial nonmedullary thyroid carcinoma. Cancer Control 2006;13:106-110.
35. Malchoff CD, Sarfarazi M, Tendler B, et al. Familial papillary thyroid carcinoma is genetically distinct from familial adenomatous polyposis coli. Thyroid 1999;9:247-252.
36. Takami H, Ozaki O, Ito K. Familial nonmedullary thyroid cancer: an emerging entity that warrants aggressive treatment. Arch Surg 1996;131:676.
37. Triponez F, Wong M, Sturgeon C, et al. Does familial nonmedullary thyroid cancer adversely affect survival? World J Surg 2006;30:787-793.
38. Harach HR, Williams GT, Williams ED. Familial adenomatous polyposis associated thyroid carcinoma: a distinct type of follicular cell neoplasm. Histopathology 1994;25:549-561.
39. Soravia C, Sugg SL, Berk T, et al. Familial adenomatous polyposis-associated thyroid cancer: a clinical pathological, and molecular genetics study. Am J Pathol 1999;154:127-135.
40. Cameselle-Teijeiro J, Chan JK. Cribriform-morular variant of papillary carcinoma: a distinctive variant representing the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma? Mod Pathol 1999;12:400-411.
41. Herraiz M, Barbesino G, Faquin W, et al. Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 2007;5:367-373.
42. Chung DC, Maher MM, Faquin WC. Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding. N Engl J Med 2006;355: 2349-2357.
43. Cetta F, Montalto G, Gori M, et al. Germline mutations of the APC gene in patients with familial adenomatous polyposis-associated thyroid carcinoma: results from a European cooperative study. J Clin Endocrinol Metab 2000;85:286-292.
44. Uchino S, Noguchi S, Yamashita H, et al. Mutational analysis of the APC gene in cribriform-morula variant of papillary thyroid carcinoma. World J Surg 2006;30: 775-779.
45. Xu B, Yoshimoto K, Miyauchi A, et al. Cribriformmorula variant of papillary thyroid carcinoma: a pathological and molecular genetic study with evidence of frequent somatic mutations in exon 3 of the b-catenin gene. J Pathol 2003;199:58-67.
46. Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer 2007;7:35-45.
47. Marsh DJ, Coulon V, Lunetta KL, et al. Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 1998;7:507-515.
48. Eng C. PTEN: one gene, many syndromes. Hum Mutat 2003;22:183-198.
49. Marsh DJ, Kum JB, Lunetta KL, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 1999;8:1461-1472.
50. Laury A, Nosé V. Thyroid pathology in PTEN hamartoma tumor syndrome (PHTS): characteristic findings of a distinct entity (personal communication).
51. Harach HR, Soubeyran I, Brown A, et al. Thyroid pathologic findings in patients with Cowden disease. Ann Diagnost Pathol 1999;3:331-340.
52. Parisi MA, Dinulos MB, Leppig KA, et al. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet 2001;38:52-58.
53. Zambrano E, Holm I, Glickman J, et al. Abnormal distribution and hyperplasia of thyroid C-cells in PTEN-associated diseases. Endoc Pathol 2004;15:55-64.
54. Stratakis CA, Courcoutsakis NA, Abati A, et al. Thyroid gland abnormalities in patients with the syndrome of spotty skin pigmentation, myxomas, endocrine overactivity, and schwannomas (Carney complex). J Clin Endocr Metab 1997;82:2037-2043.
55. Stratakis CA, Kirschner LS, Taymans SE, et al. Carney complex, Peutz-Jeghers syndrome, Cowden disease, and Bannayan-Zonana syndrome share cutaneous and endocrine manifestations, but not genetic loci. J Clin Endocr Metab 1998;83:2972-2976.
56. Goto M, Miller RW, Ishikawa Y, et al. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomark Prevent 1996;5:239-246.
57. Ishikawa Y, Sugano H, Matsumoto T, et al. Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. Cancer 1999;85: 1345-1352.
58. Nehlin JO, Skovgaard GL, Bohr VA. The Werner syndrome. A model for the study of human aging. Ann N Y Acad Sci 2000;908:167-179.
59. Giacomelli L, Guerriero G, Falvo L, et al. Simultaneous occurrence of medullary carcinoma and papillary microcarcinoma of thyroid in a patient with MEN 2A syndrome. report of a case. Tumori 2007;93:109-111.
60. Biscolla RP, Ugolini C, Sculli M, et al. Medullary and papillary tumors are frequently associated in the same thyroid gland without evidence of reciprocal influence in their biologic behavior. Thyroid 2004; 14:946-952.
61. Bakhsh A, Kirov G, Gregory GW, et al. A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer. Endocr Relat Cancer 2006;13:475-483.
62. Bevan S, Pal T, Greenberg CR, et al. A comprehensive analysis of MNG1, TCO1, fPTC, PTEN, TSHR, and TRKA in familial nonmedullary thyroid cancer: confirmation of linkage to TCO1. J Clin Endocrinol Metab 2001;86:3701-3704.
63. Burgess JR, Duffield A, Wilkinson SJ, et al. Two families with an autosomal dominant inheritance pattern for papillary carcinoma of the thyroid. J Clin Endocrinol Metab 1997;82:345-348.
64. Lesueur F, Stark M, Tocco T, et al. Genetic heterogeneity in familial nonmedullary thyroid carcinoma: exclusion of linkage to RET, MNG1, and TCO in 56 families. NMTC Consortium. J Clin Endocrinol Metab 1999;84:2157-2162.
65. Eng C. The role of PTEN, a phosphatase gene, in inherited and sporadic nonmedullary thyroid tumors. Recent Progr Hormone Res 1999;54:441-452; discussion, 453.
66. Canzian F, Amati P, Harach HR, et al. A gene predisposing to familial thyroid tumors with cell oxyphilia maps to chromosome 19p13.2. Am J Hum Genet 1998;63:1743-1748.
67. Leprat F, Bonichon F, Guyot M, et al. Familial thyroid carcinoma: pathology review in 27 affected cases from 13 French families. Clin Endocrinal 1999;50: 589-594.
68. Katoh R, Harach HR, Williams ED. Solitary, multiple, and familial oxyphil tumours of the thyroid gland. J Pathol 1998;186:292-299.
69. McKay JD, Williamson J, Lesueur F, et al. At least three genes account for familial papillary thyroid carcinoma: TCO and MNG1 excluded as susceptibility loci from a large Tasmanian family. Eur J Endocrinol 1999;141: 122-125.
70. McKay JD, Lesueur F, Jonard L, et al. Localization of a susceptibility gene for familial nonmedullary thyroid carcinoma to chromosome 2q21. Am J Hum Genet 2001;69:440-446.
71. Malchoff CD, Sarfarazi M, Tendler B, et al. Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab 2000;85:1758-1764.
72. Bignell GR, Canzian F, Shayeghi M, et al. Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer. Am J Hum Genet 1997; 61:1123-1130.
73. Harach R. Familial nonmedullary thyroid neoplasia. Endocr Pathol 2001;12:97-112.
74. Xing M. The T1799A BRAF mutation is not a germline mutation in familial nonmedullary thyroid cancer. Clin Endocrinol (Oxf) 2005;63:263-266.
75. Khan A, Smellie J, Nutting C, et al. Familial nonmedullary thyroid cancer: a review of the genetics. Thyroid 2010;20:795-801.
76. Vriens MR, Suh I, Moses W, et al. Clinical features and genetic predisposition to hereditary nonmedullary thyroid cancer. Thyroid 2009;19:1343-1349.