Metastatic follicular thyroid carcinoma arising from congenital goiter as a result of a novel splice donor site mutation in the thyroglobulin gene

Journal of Clinical Endocrinology and Metabolism

Volumn 91, Issue 3, 2006, Pages 740-746

  Alzahrani, Ali S ^a   Baitei, Essa Y ^a   Zou, Minjing ^a   Shi, Yufei ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; THYROGLOBULIN; THYROTROPIN;

ADULT; CANCER DIAGNOSIS; CASE REPORT; CLINICAL FEATURE; CONFERENCE PAPER; CONGENITAL GOITER; DONOR SITE; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GOITER; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; MALE; MALIGNANT TRANSFORMATION; METASTASIS; METASTATIC THYROID FOLLICULAR CARCINOMA; POINT MUTATION; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SIBLING; STOP CODON; THYROID FOLLICULAR CARCINOMA; THYROID SURGERY; ADENOCARCINOMA; ALTERNATIVE RNA SPLICING; ARTICLE; FEMALE; GENETICS; PEDIGREE; THYROID TUMOR;

ADENOCARCINOMA, FOLLICULAR; ADULT; ALTERNATIVE SPLICING; FEMALE; FRAMESHIFT MUTATION; GOITER; HUMANS; MALE; PEDIGREE; THYROGLOBULIN; THYROID NEOPLASMS;

EID: 33644826791     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2005-2302     Document Type: Conference Paper

References (30)

1. Kopp P 2002 Perspective: genetic defects in the etiology of congenital hypothyroidism. Endocrinology 143:2019-2024
2. Knobel M, Medeiros-Neto G 2003 An outline of inherited disorders of the thyroid hormone generating system. Thyroid 13:771-801
3. Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S 1998 Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3′ splice site. J Clin Invest 101:1028-1035
4. Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S, Perret J, Vassart G 1991 A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 88:1901-1905
5. Bikker H, den Hartog MT, Baas F, Gons MH, Vulsma T, de Vijlder JJ 1994 A 20-basepair duplication in the human thyroid peroxidase gene results in a total iodide organification defect and congenital hypothyroidism. J Clin Endocrinol Metab 79:248-252
6. Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C 2002 Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. N Engl J Med 347:95-102
7. Medeiros-Neto G, Targovnik HM, Vassart G 1993 Defective thyroglobulin synthesis and secretion causing goiter and hypothyroidism. Endocr Rev 14:165-183
8. Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Vono J, Medeiros-Neto G 2001 Congenital goiter with hypothyroidism caused by a 5′ splice site mutation in the thyroglobulin gene. Thyroid 11:685-690
9. Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G 1993 A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 77:210-215
10. Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-NetoG1998 Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 8:291-297
11. van de Graaf SA, Ris-Stalpers C, Veenboer GJ, Cammenga M, Santos C, Targovnik HM, de Vijlder JJ, Medeiros-Neto G 1999 A premature stopcodon in thyroglobulin messenger RNA results in familial goiter and moderate hypothyroidism. J Clin Endocrinol Metab 84:2537-2542
12. Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieiri T 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J Clin Endocrinol Metab 84:1438-1444
13. Caron P, Moya CM, Malet D, Gutnisky VJ, Chabardes B, Rivolta CM, TargovnikHM2003 Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G→A [R2223H]) resulting in fetal goitrous hypothyroidism. J Clin Endocrinol Metab 88:3546-3553
14. Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM 2004 Two distinct compound heterozygous constellations (R277X/IVS34-1G→C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 89:646-657
15. Rivolta CM, Moya CM, Gutnisky VJ, Varela V, Miralles-Garcia JM, Gonzalez-Sarmiento R, Targovnik HM 2005 A new case of congenital goiter with hypothyroidism caused by a homozygous p.R277X mutation in the exon 7 of the thyroglobulin gene: a mutational hot spot could explain the recurrence of this mutation. J Clin Endocrinol Metab 90:3766-3770
16. Vono-Toniolo J, Rivolta CM, Targovnik HM, Medeiros-Neto G, Kopp P 2005 Naturally occurring mutations in the thyroglobulin gene. Thyroid 15:1021-1033
17. Medeiros-Neto G, Gil-Da-Costa MJ, Santos CL, Medina AM, Silva JC, Tsou RM, Sobrinho-Simoes M 1998 Metastatic thyroid carcinoma arising from congenital goiter due to mutation in the thyroperoxidase gene. J Clin Endocrinol Metab 83:4162-4166
18. Camargo R, Limbert E, Gillam M, Henriques MM, Fernandes C, Catarino AL, Soares J, Alves VA, Kopp P, Medeiros-NetoG2001 Aggressive metastatic follicular thyroid carcinoma with anaplastic transformation arising from a long-standing goiter in a patient with Pendred's syndrome. Thyroid 11:981-988
19. Cooper DS, Axelrod L, DeGroot LJ, Vickery Jr AL, Maloof F 1981 Congenital goiter and the development of metastatic follicular carcinoma with evidence for a leak of nonhormonal iodide: clinical, pathological, kinetic, and biochemical studies and a review of the literature. J Clin Endocrinol Metab 52:294-306
20. Medeiros-Neto G, Stanbury JB 1994 Thyroid malignancy and dyshormonogenetic goiter. In: Medeiros-Neto G, Stanbury JB, eds. Inherited disorders of the thyroid system. Boca Raton, FL: CRC Press; 207-218
21. Morris HP, Dalton AJ, Green CD 1951 Malignant thyroid tumors occurring in the mouse after prolonged hormonal imbalance during the ingestion of thiouracil. J Clin Endocrinol Metab 11:1281-1295
22. Shi YF, Zou MJ, Schmidt H, Juhasz F, Stensky V, Robb D, FaridNR1991 High rates of ras codon 61 mutation in thyroid tumors in an iodide-deficient area. Cancer Res 51:2690-2693
23. Targovnik HM, Vono J, Billerbeck AE, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G 1995 A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 80:3356-3360
24. Lamas L, Anderson PC, Fox JW, Dunn JT 1989 Consensus sequences for early iodination and hormonogenesis in human thyroglobulin. J Biol Chem 264:13541-13545
25. van Voorthuizen WF, de Vijlder JJ, van Dijk JE, Tegelaers WH 1978 Euthyroidism via iodide supplementation in hereditary congenital goiter with thyroglobulin deficiency. Endocrinology 103:2105-2111
26. Cooper DS, Specker B, Ho M, Sperling M, Ladenson PW, Ross DS, Ain KB, Bigos ST, Brierley JD, Haugen BR, Klein I, Robbins J, Sherman SI, Taylor T, Maxon 3rd HR 1998 Thyrotropin suppression and disease progression in patients with differentiated thyroid cancer: results from the National Thyroid Cancer Treatment Cooperative Registry. Thyroid 8:737-744
27. Bohm J, Kosma VM, Eskelinen M, Hollmen S, Niskanen M, Tulla H, Alhava E, Niskanen L 1999 Non-suppressed thyrotropin and elevated thyroglobulin are independent predictors of recurrence in differentiated thyroid carcinoma. Eur J Endocrinol 141:460-467
28. Parma J, Duprez L, Van Sande J, Hermans J, Rocmans P, Van Vliet G, Costagliola S, Rodien P, Dumont JE, VassartG1997 Diversity and prevalence of somatic mutations in the thyrotropin receptor and Gś genes as a cause of toxic thyroid adenomas. J Clin Endocrinol Metab 82:2695-2701
29. Russo D, Arturi F, Schlumberger M, Caillou B, Monier R, Filetti S, Suarez HG 1995 Activating mutations of the TSH receptor in differentiated thyroid carcinomas. Oncogene 11:1907-1911
30. Hishinuma A, Fukata S, Kakudo K, Murata Y, Ieiri T 2005 High incidence of thyroid cancer in long-standing goiters with thyroglobulin mutations. Thyroid 15:1079-1084