Diagnostic Histopathology
Volume 15, Issue 2 , Pages 87-94 , February 2009

Familial thyroid carcinoma: the road less travelled in thyroid pathology

References 

  1. Nikiforov Y, Gnepp DR, Fagin JA. Thyroid lesions in children and adolescents after the Chernobyl disaster: implications for the study of radiation tumorigenesis. J Clin Endocrinol Metab. 1996;81:9–14
  2. Nikiforov YE. RET/PTC rearrangement in thyroid tumors. Endocr Pathol. 2002;13:3–16
  3. Elisei R, Ugolini C, Viola D, et al. BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study. J Clin Endocrinol Metab. 2008;93:3943–3949
  4. Eng C. Familial papillary thyroid cancer - many syndromes, too many genes?. J Clin Endocrinol Metab. 2000;85:1755–1757
  5. Dotto J, Nose V. Familial thyroid carcinoma: a diagnostic algorithm. Adv Anat Pathol. 2008;15:332–349
  6. Leboulleux S, Baudin E, Travagli JP, Schlumberger M. Medullary thyroid carcinoma. Clin Endocrinol (Oxf). 2004;61:299–310
  7. Horn RC. Carcinoma of the thyroid: description of a distinctive morphologic variant and report of seven cases. Cancer. 1951;4:697–707
  8. Hazard JB, Hawk WA, Crile G. Medullary (solid) carcinoma of the thyroid. A clinicopathologic entity. J Clin Endocrinol Metab. 1959;19:152–161
  9. Copp DH. Calcitonin and parathyroid hormone. Annu Rev Pharmacol. 1969;9:327–344
  10. Sipple JH. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med. 1961;31:163–166
  11. Williams ED. Histogenesis of medullary carcinoma of the thyroid. J Clin Pathol. 1966;19:114–118
  12. Mulligan LM, Eng C, Attie T, et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet. 1994;3:2163–2167
  13. Massoll N, Mazzaferri EL. Diagnosis and management of medullary thyroid carcinoma. Clin Lab Med. 2004;24:49–83
  14. Asa SL. How familial cancer genes and environmentally induced oncogenes have changed the endocrine landscape. Mod Pathol. 2001;14:246–253
  15. Eng C. RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschprung’s disease. Semin Med Beth Israel Hosp Boston. 1996;335:943–951
  16. Kebebew E, Ituarte PH, Siperstein AE, Duh QY, Clark OH. Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer. 2000;88:1139–1148
  17. Eng C. RET proto-oncogene in the development of human cancer. J Clin Oncol. 1999;17:380–393
  18. Sheikh HA, Tometsko M, Niehouse L, et al. Molecular genotyping of medullary thyroid carcinoma can predict tumor recurrence. Am J Surg Pathol. 2004;28:101–106
  19. Jimenez C, Habra MA, Huang SC, et al. Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. J Clin Endocrinol Metab. 2004;89:4142–4145
  20. Albores-Saavedra J, LiVolsi VA, Williams ED. Medullary carcinoma. Semin Diagn Pathol. 1985;2:137–146
  21. Evans DB, Burgess MA, Goepfert H, Gagel RF. Medullary thyroid carcinoma. Curr Ther Endocrinol Metab. 1997;6:127–132
  22. de Lellis RA, Wolfe HJ. The pathobiology of the human calcitonin (C)-cell: a review. Pathol Annu. 1981;16:25–52
  23. Etit D, Faquin WC, Gaz R, Randolph G, DeLellis RA, Pilch BZ. Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases. Arch Pathol Lab Med. 2008;132:1767–1773
  24. DeLellis R, Nunnemacher G, Wolfe H. C-cell hyperplasia: an ultrastructural analysis. Lab Invest. 1978;36:237–248
  25. Albores-Saavedra J, Monforte H, Nadji M, Morales AR. C-cell hyperplasia in thyroid tissue adjacent to follicular cell tumors. Hum Pathol. 1988;19:795
  26. Gibson W, Peng T, Croker B. C-cell nodules in adult human thyroid: a common autopsy finding. Am J Clin Pathol. 1980;73:347–351
  27. Komminoth P, Roth J, Saremasiani P, et al. Polysialic acid of the neural cell adhesion molecule in the human thyroid: a marker for medullary carcinoma and primary C-cell hyperplasia. An immunohistochemical study on 79 thyroid lesions. Am J Surg Pathol. 1994;18:399
  28. Wolfe HJ, Melvin KE, Cervi-Skinner SJ, et al. C-cell hyperplasia preceding medullary thyroid carcinoma. N Engl J Med. 1973;289:437–441
  29. Albores-Saavedra JA, Krueger JE. C-cell hyperplasia and medullary thyroid microcarcinoma. Endocr Pathol. 2001;12:365–377
  30. Guyetant S, Dupre F, Bigorgne JC, et al. Medullary thyroid microcarcinoma: a clinicopathologic retrospective study of 38 patients with no prior familial disease. Hum Pathol. 1999;30:957–963
  31. Weinhaeusel A, Scheuba C, Lauss M, et al. The influence of gender, age, and RET polymorphisms on C-cell hyperplasia and medullary thyroid carcinoma. Thyroid. 2008;18:1269–1276
  32. Nose V. Familial non-medullary thyroid carcinoma: an update. Endocr Pathol. 2008 Oct 18;Epub ahead of print
  33. Malchoff CD, Malchoff DM. Familial nonmedullary thyroid carcinoma. Cancer Control. 2006;13:106–110
  34. Brunaud L, Zarnegar R, Wada N, et al. Chromosomal aberrations by comparative genomic hybridization in thyroid tumors in patients with familial nonmedullary thyroid cancer. Thyroid. 2003;13:621–629
  35. 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
  36. Goto M, Miller RW, Ishikawa Y, Sugano H. Excess of rare cancers in Werner syndrome (adult progeria). Cancer Epidemiol Biomarkers Prev. 1996;5:239–246
  37. Blumenthal GM, Dennis PA. PTEN hamartoma tumor syndromes. Eur J Hum Genet. 2008;16:1289–1300
  38. Stratakis CA. Clinical genetics of multiple endocrine neoplasias, Carney complex and related syndromes. J Endocrinol Invest. 2001;24:370–383
  39. 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 Endocrinol Metab. 1998;83:2972–2976
  40. 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
  41. Kraimps JL, Bouin-Pineau MH, Amati P, et al. Familial papillary carcinoma of the thyroid. Surgery. 1997;121:715–718
  42. Cavaco BM, Batista PF, Martins C, et al. Familial non-medullary thyroid carcinoma (FNMTC): analysis of fPTC/PRN, NMTC1, MNG1 and TCO susceptibility loci and identification of somatic BRAF and RAS mutations. Endocr Relat Cancer. 2008;15:207–215
  43. Bakhsh A, Kirov G, Gregory JW, Williams ED, Ludgate M. A new form of familial multi-nodular goitre with progression to differentiated thyroid cancer. Endocr Relat Cancer. 2006;13:475–483
  44. Cavaco BM, Batista PF, Sobrinho LG, Leite V. Mapping a new familial thyroid epithelial neoplasia susceptibility locus to chromosome 8p23.1-p22 by high-density single-nucleotide polymorphism genome-wide linkage analysis. J Clin Endocrinol Metab. 2008;93:4426–4430
  45. Fenton PA, Clarke SE, Owen W, Hibbert J, Hodgson SV. Cribriform variant papillary thyroid cancer: a characteristic of familial adenomatous polyposis. Thyroid. 2001;11:193–197
  46. Lupoli G, Vitale G, Caraglia M, et al. Familial papillary thyroid microcarcinoma: a new clinical entity. Lancet. 1999;353:637–639
  47. Ng SB, Sittampalam K, Goh YH, Eu KW. Cribriform-morular variant of papillary carcinoma: the sporadic counterpart of familial adenomatous polyposis-associated thyroid carcinoma. A case report with clinical and molecular genetic correlation. Pathology. 2003;35:42–46
  48. Sippel RS, Caron NR, Clark OH. An evidence-based approach to familial nonmedullary thyroid cancer: screening, clinical management, and follow-up. World J Surg. 2007;31:924–933
  49. Chan JK, Loo KT. Cribriform variant of papillary thyroid carcinoma. Arch Pathol Lab Med. 1990;114:622–624
  50. Subramaniam MM, Putti TC, Anuar D, et al. Clonal characterization of sporadic cribriform-morular variant of papillary thyroid carcinoma by laser microdissection-based APC mutation analysis. Am J Clin Pathol. 2007;128:994–1001

PII: S1756-2317(09)00005-X

doi: 10.1016/j.mpdhp.2009.01.002

Diagnostic Histopathology
Volume 15, Issue 2 , Pages 87-94 , February 2009