Predictive DNA Testing and Prophylactic Thyroidectomy in Patients at Risk for Multiple Endocrine Neoplasia Type 2A

Wells, Samuel A.; David, Doina; Toshima, Koji; Dehner, Louis P.; Coffin, Cheryl M.; Dowton, S. Bruce; Ivanovich, Jennifer; DeBenedettl, Mary K.; Dilley, William G.; Moley, Jeffrey F.; Norton, Jeffrey A.; Donis-Keller, Helen

doi:10.1097/00000658-199409000-00002

Cited by 419 publications

(214 citation statements)

References 19 publications

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“…Conceivably, the first description of medullary thyroid cancer in 1959 as a tumor entity in its own right (21), and the subsequent availability and widespread use of sensitive calcitonin assays since the 1980s (22-26) may have prompted the more frequent and earlier detection of sporadic and hereditary medullary cancers. This drive toward early tumor diagnosis gathered additional speed with the advent of genetic testing, enabling presymptomatic identification of germline mutations in the RET proto-oncogene (27)(28)(29). Intriguingly, DNA-based screening for RET germline mutations provides for the rapid and reliable identification, and hence early thyroidectomy, of asymptomatic gene carriers with occult hereditary medullary thyroid cancer, even in the presence of yet normal calcitonin serum levels (12).…”

Section: Trends Of Primary Tumor Size In Patients With Papillary and mentioning

confidence: 99%

Decreasing tumor size of thyroid cancer in Germany: institutional experience 1995–2009

Machens

Dralle²

2010

European Journal of Endocrinology

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Objective: Decreasing tumor size in a population over time is widely interpreted as a measure of effectiveness of cancer screening programs. Nonetheless, thyroid cancer size is rarely analyzed as a function of time. This study aimed to explore secular trends of thyroid cancer diameter in Germany. Design: Retrospective analysis of 1644 thyroid cancer patients from a large referral center for thyroid cancer (1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007)(2008)(2009). Methods: Calculation of largest tumor diameters for each type of cancer as a function of time periods and birth cohorts. Results: Over the past 25 years, subdivided into 5-year periods by year of thyroidectomy

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Section: Trends Of Primary Tumor Size In Patients With Papillary and mentioning

confidence: 99%

Decreasing tumor size of thyroid cancer in Germany: institutional experience 1995–2009

Machens

Dralle²

2010

European Journal of Endocrinology

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“…Cure by operation can only be achieved if the tumour is limited to the thyroid gland and spreading to the local lymph nodes has not occurred. In addition, preoperative calcitonin levels do not distinguish reliably in all cases between C-cellhyperplasia and carcinoma (7,8). Microcarcinoma despite normal pentagastrin test has been observed in children 4±9 years old (8,9).…”

Section: Introductionmentioning

confidence: 98%

Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy

Siggelkow

Melzer²,

Nolte³

et al. 2001

European Journal of Endocrinology

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Objective: Both multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are caused by germline mutations of the RET proto-oncogene. A broad spectrum of malignancy within and between families has been described with no clear genotype±phenotype correlation due to a scarcity of available data of large kindreds. Design: Here we present the only known family with a germline mutation of codon 611 TGC to TTC (exon 10) in the RET proto-oncogene leading to a replacement of cysteine by phenylalanine (Cys611Phe or C611F). Results: Twenty family members of this large kindred are gene carriers (GCs) and seven (5±13 years old) are potential carriers but have yet to be analysed. The clinical course of medullary thyroid carcinoma (MTC) in this family is characterized by a very slow evolution and progression of the tumour with no MTC-related death to date. Of 11 patients (30±69 years old) having undergone thyroidectomy six were classified as pT 1 , four as pT 2 and one as C-cell hyperplasia according to the TNM system of the International Union Against Cancer. Due to cervical and mediastinal lymph node metastasis one patient (44 years old) had to be operated on a second time. The seven non-operated GCs of the fourth and fifth generation (17±26 years old) are yearly monitored with pentagastrin stimulation tests; one non-operated GC (43 years old) has refused any further investigations. Screening for primary hyperparathyroidism and phaeochromocytoma was negative in all cases. Conclusion: We suggest from these experiences that the general advice for thyroidectomy in early childhood should be modified in certain families, depending on genotype.

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“…A identificação das mutações específicas no RET associadas com NEM 2A, NEM 2B ou CMTF propiciou um método moderno e de grande importância para se determinar quais membros de uma família herdaram o alelo mutante e estão, portanto, sob risco da doença (85,86). Dois métodos diretos de teste de DNA para detecção destas mutações são atualmente empregados.…”

Section: Rastreamento Genéticounclassified

“…Alguns autores recomendam tireoidectomia total e ressecção dos linfonodos do compartimento central do pescoço baseadas apenas no teste do DNA (86). Outros recomendam testes provocativos da CT periódicos nestes portadores da mutação e tireoidectomia apenas naqueles em que o teste provocativo se mostrar alterado (87).…”

Section: Rastreamento Genéticounclassified

Carcinoma medular da tireóide

Ezabella

Hayashida

Abelin

et al. 1998

Arq Bras Endocrinol Metab

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Recebido em 25/6/98 Revisado em 24/7/98 Aceito em 28/7/98 O CARCINOMA MEDULAR DA TIREÓIDE (CMT), identificado inicialmente como entidade clínico-patológica, em 1959, por Hazard e cols.(l) deriva das células C, produtoras de calcitonina. Tem características especí-ficas como presença de material amilóide, alta incidência de metástases em linfonodos cervicais e grau intermediario de malignidade, entre o carcinoma anaplásico e o carcinoma papilífero. Apesar de sua baixa incidência (3 a 12% dos carcinomas da tireóide), tem características bastante peculiares: 1) deriva das células C, originárias da crista neural, em contraste com as célu-las foliculares; 2) produz uma grande variedade de substancias bioativas, entre elas a calcitonina (CT), normalmente produzida pelas células C; 3) pode ocorrer de maneira esporádica (75 a 90%), ou sob a forma familiar (10 a 25%), com herança autossômica dominante. Nesta última, está geralmente associado a outras patologias, como parte das neoplasias endócrinas múltiplas tipo 2A e 2B (NEM 2A e NEM 2B). Pode também se apresentar sob a forma familiar isolada (CMTF)(2-8) (Tabela 1).O CMT tem sido diagnosticado com freqüência progressivamente maior, principalmente a sua forma hereditária, graças aos métodos de rastreamento entre familiares de indivíduos afetados. Assim, a forma hereditária chega a corresponder a até 25% dos casos em algumas séries(9).

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Predictive DNA Testing and Prophylactic Thyroidectomy in Patients at Risk for Multiple Endocrine Neoplasia Type 2A

Cited by 419 publications

References 19 publications

Decreasing tumor size of thyroid cancer in Germany: institutional experience 1995–2009

Decreasing tumor size of thyroid cancer in Germany: institutional experience 1995–2009

Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy

Carcinoma medular da tireóide

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