A unique RET Exon 11 (G691S) polymorphism in an Indian patient with a collision tumor of the thyroid

Diagnostic Pathology

Volumn 2, Issue 1, 2007, Pages

  Rekhi, Bharat ^a   Badhe, Rakesh R ^a   Desouza, Maria Alina ^a   Chaukar, Devendra ^a   D'Cruz, Anil K ^a   Arya, Suprita ^a   Kane, S V ^a  

^a TATA MEMORIAL HOSPITAL   (India)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 37549054730     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-2-39     Document Type: Article

References (23)

1. Hedinger C, Williams ED, Sobin LH: The WHO histological classification of thyroid tumours: a commentary on the second edition. Cancer 1989, 63:908-911.
2. Williams ED, Brown CL, Doniach I: Pathological and clinical findings in aseries of 67 cases of medullary carcinoma of the thyroid. J Clin Pathol 1966, 19(2): 103-113.
3. Macak J, Vaverkova H, Dushova M, Perglerova I: Medullary and mixed medullary-papillary carcinoma of the thyroid gland. Pathologica 1997, 89:317-322.
4. Shiroko T, Yokoo N, Okamoto K, Kitakado Y, Azuma H, Fukui T, Tanaka C: Mixed medullary-papillary carcinoma of the thyroid with lymph node metastases: report of a case. Surg Today 2001, 31:317-321.
5. Desai SS, Suchana S, Borges AM: A study of histopathological features of medullary carcinoma of the thyroid: Cases from a single institute from India. Ind J Cancer 2005, 42:21-25.
6. Goyal R, Nada R, Rao KL, Radotra BD: Mixed medullary and follicular cell carcinoma of the thyroid with lymph node metastasis in a 7-year-old child. Pathol Int 2006, 56:84-88.
7. Sizemore GW: Medullary carcinoma of the thyroid gland. Semin Oncol 1987, 14:306-314.
8. González-Cámpora R, Lopez-Garrido J, Martin Lacave I, Miralles Sánchez EJ, Villar JL: Concurrence of symptomatic encapsulated follicular carcinoma, an occult papillary carcinoma and a medullary carcinoma in the same patient. Histopathology 1992, 21(4):380-382.
9. Pastolero GC, Coire Cl, Asa S: Concurrent medullary and papillary carcinomas of thyroid with lymph node metastasis. A collision phenomenon. Am J Surg Pathol 1996, 20:245-250.
10. Seki T, Kameyama K, Hayashi H, Nagahama M, Masudo K, Fukunari N, Tanaka K, Sugino K, Ito K, Takami H: Composite metastatic carcinoma in lymph nodes of patients with concurrent medullary and papillary thyroid carcinoma: a report of two cases. Endocr Pathol 2004, 15:83-88.
11. Papi G, Corrado S, Pomponi MG, Carapezzi C, Cesinaro A, LiVolsi VA: Concurrent lymph node metastasis of medullary and papillary thyroid carcinoma in a case with RET oncogene germline mutation. Endocr Pathol 2003, 14:269-276.
12. Fagin JA: Perspective: lessons learned from molecular genetic studies of thyroid cancer-insights into pathogenesis and tumor-specific therapeutic targets. Endocrinology 2002, 143(6):2025-2028.
13. Gil L, Azanedo M, Pollan M, Cristobal E, Arribas B, García-Albert L, García-Sáiz A, Maestro ML, Torres A, Menárguez J, Rojas JM: Genetic analysis of RET, GFR alpha I and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A. Int J Cancer 2002, 99:299-304.
14. Guiu XM: Mixed medullary and follicular carcinoma of the thyroid. On the search for its histogenesis. Am J Pathol 1999, 155:1413-1418.
15. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr: Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993, 2:851-856.
16. Hofstra RM, Landsvater RM, Ceccherini I, Stulp RP, Stelwagen T, Luo Y, Pasini B, Höppener JW, van Amstel HK, Romeo G, et al.: A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994, 367(6461):375-376.
17. Marsh DJ, Learoyd DL, Andrew SD, Krishnan L, Pojer R, Richardson AL, Delbridge L, Eng C, Robinson BG: Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin Endocrinol (Oxf) 1996, 44(3):249-257.
18. Elisei R, Cosci B, Romei C, Bottici V, Sculli M, Lari R, Barale R, Pacini F, Pinchera A: RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab 2004, 89:3579-3584.
19. Robledo M, Gil L, Pollan M, Cebrian A, Ruiz S, Azanedo M, Benitez J, MenarguezJ, Rojas JM: Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A. Concernes 2003, 63:1814-1817.
20. Bounacer A, Du Villard JA, Wicker R, Caillou B, Schlumberger M, Sarasin A, Suárez HG: Association of RET codon 691 polymorphism in radiation-induced human thyroid tumours with Ccell hyperplasia in peritumoural tissue. Br J Cancer 2002, 86:1929-1936.
21. Rossi S, Fugazzola L, De Pasquale L, Braidotti P, Cirello V, Beck-Peccoz P, Bosari S, Bastagli A: Medullary and papillary carcinoma of the thyroid gland occurring as a collision tumour: report of three cases with molecular analysis and review of the literature. Endocr Relat Cancer 2005, 12:281-289.
22. Melillo RM, Cirafici AM, De Falco V, Bellantoni M, Chiappetta G, Fusco A, Carlomagno F, Picascia A, Tramontano D, Tallini G, Santoro M: The oncogenic activity of RET point mutants for follicular thyroid cells may account for the occurrence of papillary thyroid carcinoma in patients affected by familial medullary thyroid carcinoma. Am J Pathol 2004, 165:511-521.
23. Barbot N, Calmettes C, Schuffenecker I, Saint-André JP, Franc B, Rohmer V, Jallet P, Bigorgne JC: Pentagastrin stimulation test and early diagnosis of medullary thyroid carcinoma using an immunoradiometric assay of calcitonin: comparison with genetic screening in hereditary medullary thyroid carcinoma. J Clin Endocrinol Metab 1994, 78:114-120.