Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome

Lallier, Michel; St-Vil, Dickens; Giroux, M; Hout, C; Gaboury, Louis; Oligny, Luc L.; Desjardins, Jean G.

doi:10.1016/s0022-3468(98)90656-x

Cited by 50 publications

(34 citation statements)

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“…After a minimum followup of 5 years, 88% of the 50 patients remained diseasefree, as defined by undetectable calcitonin levels following provocative testing. Other institutional series with smaller numbers of patients (Lallier et al 1998, van Heurn et al 1999, Sanso et al 2005, less complete or shorted follow-up (Lips et al 1994, Pacini et al 1995, Dralle et al 1998, Niccoli-Sire et al 1999, Ukkat et al 2001, Rodriguez et al 2002 have reported variably defined 'cure rates' of 76-100%. As expected, the prognosis of hereditary MTC in more advanced stages is not favorable.…”

Section: Timing Of Prophylactic Thyroidectomymentioning

confidence: 99%

“…Currently, it is generally accepted that in MEN 2B patients undergoing prophylactic thyroidectomy, central lymph node dissection is indicated and, if nodal metastases are found, a more extensive node dissection should be considered (Brandi et al 2001). In contrast, despite that nodal metastases from MTC have been reported in a child at age of 5 years (Gill et al 1996), there is no consensus regarding the need for prophylactic dissection of central lymph nodes in MEN 2A and FMTC, with most authors supporting prophylactic thyroidectomy alone (i.e., without concomitant cervical lymph node dissection), since in these patients the likelihood of metastatic lymph node disease is very low (Lallier et al 1998, Brandi et al 2001, Frilling et al 2003, Machens et al 2003a,b, Skinner 2003 In the presence of elevated basal or stimulated calcitonin levels (which indicates the presence of C-cell disease, either CCH or MTC), central lymph node dissection at the time of total thyroidectomy should be considered (Brandi et al 2001, Niccoli-Sire et al 2003, Heizmann et al 2006. Obviously, a more aggressive neck dissection should be performed if there is evidence of involved lymph nodes in the lateral neck.…”

Section: The Role Of Cervical Lymph Node Dissectionmentioning

confidence: 99%

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The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Sakorafas¹,

Friess²,

Peros³

2008

Endocrine Related Cancer

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Medullary thyroid cancer (MTC) may occur either sporadically or on a hereditary basis. Hereditary MTC may be observed with either multiple endocrine neoplasia syndromes (MEN 2A and MEN 2B) or as familial MTC (FMTC). Despite the rarity of these syndromes, early diagnosis is especially important, since MTC is a lethal disease if not promptly and appropriately treated. Recently, the development of genetic testing and direct DNA analysis allows the identification of asymptomatic patients. Surgical prophylaxis should be considered in these cases, ideally to prevent the development of MTC. During the recent decade, the concept of 'codon-directed' timing of prophylactic surgery emerged as a reasonable strategy in the management of these patients. Currently, genetic analysis offers the possibility to define genotype-phenotype correlations and to adjust the time of prophylactic surgery. Hereditary MTC is a model of genetically determined cancer in which both diagnostic and therapeutic strategies rely on the identification of specific mutations.Endocrine-Related Cancer (2008) 15 871-884

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Section: Timing Of Prophylactic Thyroidectomymentioning

confidence: 99%

Section: The Role Of Cervical Lymph Node Dissectionmentioning

confidence: 99%

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Sakorafas¹,

Friess²,

Peros³

2008

Endocrine Related Cancer

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“…The finding that mutations in the RET protooncogene are associated with MEN2 has simplified the management of kindreds with this disease and has established the place of its preventive operative therapy (Donis-Keller et al 1993. Now it is generally accepted that the most reliable way to prevent this form of MTC is prophylactic thyroidectomy performed in asymptomatic mutation carriers as early as 5 years of age (Lips et al 1994, Wells et al 1994, Lallier et al 1998. It leads to cause-specific survival similar to that of the general population.…”

Section: Introductionmentioning

confidence: 99%

Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary

Klein

Ésik²,

Homolya

et al. 2001

Journal of Endocrinology

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Medullary thyroid carcinoma (MTC) occurs usually in sporadic form, but about a quarter of the cases are hereditary and appear as part of one of the multiple endocrine neoplasia type 2 (MEN2) syndromes. Mutations in the RET protooncogene are known to be the cause of the MEN2A and familial medullary thyroid carcinoma (FMTC) syndromes in the majority of the families. Direct DNA testing allows prophylactic thyroidectomy to be offered to individuals carrying a mutation in the above codons, and in mutation-negative cases it reduces the yearly screening-related burden on family members at risk of the disease. By DNA sequencing and PCR-restriction fragment length polymorphisms, 65 MTC probands were examined for mutations in residues 609, 611, 618, 620 of exon 10, and in residues 634, 768, 804 of exons 11, 13, and 14 respectively of the RET protooncogene. In our study, mutations in the above codons were detected in all of the 14 clinically MEN2A and FMTC families. One of these mutations, TGC609 TCC has not been reported previously. Of the 14 probands with the mutation, 25 relatives also had the identified mutation and 18 relatives proved to be non-carriers. Among the 51 probands with clinically sporadic MTC, none was found to carry a mutation in the above positions even if indirect signs of MTC, pheochromocytoma or hyperparathyroidism could be detected in some families. The frequency of the TGC634AGC mutation is unexpectedly high in our samples, which can probably be attributed to a founder effect. We conclude that screening for mutations in these codons is effective in families fulfilling the strict clinical criteria of MEN2A or FMTC.

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“…1 Se recomienda la tiroidectomía total profiláctica para los niños en quienes se observa, en su cribado genético, una mutación en el gen MEN2, para así prevenir el carcinoma. 2 La insuficiencia respiratoria posoperatoria es una complicación muy grave de las cirugías de tiroides, especialmente en los niños. En este artículo presentamos el caso de dos niños con insuficiencia respiratoria una breve y la otra más prolongada, tras una tiroidectomía total.…”

Section: Edema Laringotraqueal a Causa De Una Lesión Térmica: Complicunclassified

Edema laringotraqueal a causa de una lesión térmica: Complicación tras una tiroidectomía en niños

2017

Arch Argent Pediat

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Presentación de casos clínicos RESUMENLa insuficiencia respiratoria posoperatoria es una complicación grave de la tiroidectomía, y su origen puede ser multifactorial, especialmente en los niños. Presentamos el caso de dos hermanos sometidos a una tiroidectomía que luego tuvieron dificultad respiratoria. Para la disección de la tiroides se emplearon un bisturí armónico y el sistema de sellado vascular bipolar electrotérmico. Ambos pacientes presentaron problemas para respirar tempranamente en el posoperatorio. El hermano mayor tuvo dificultad respiratoria leve durante 24 horas, que se resolvió espontáneamente. Se extubó a la hermana menor, pero tuvo estridor grave acompañado de tiraje intercostal y retracción abdominal. Se la volvió a intubar y se la trasladó a la UCI, donde se la conectó a un respirador. Permaneció en la UCI durante 14 días debido a múltiples intentos fallidos de extubación. Es probable que los síntomas fueran más graves en la niña pequeña debido a que la pared de la tráquea era más blanda y los cartílagos, más débiles. Es necesario considerar las posibles complicaciones respiratorias posoperatorias a causa de una lesión térmica o una técnica quirúrgica inadecuada tras una tiroidectomía. Palabras clave: tiroidectomía, niño, edema laringotraqueal.

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Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome

Cited by 50 publications

References 8 publications

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

The genetic basis of hereditary medullary thyroid cancer: clinical implications for the surgeon, with a particular emphasis on the role of prophylactic thyroidectomy

Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary

Edema laringotraqueal a causa de una lesión térmica: Complicación tras una tiroidectomía en niños

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