Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a

Kahraman, Turhan; Groot, Jan Willem B. de; Rouwé, Catrienus W.; Hofstra, Robert; Links, Th. P.; Sijmons, Rolf H.; Plukker, John

doi:10.1053/ejso.2002.1378

Cited by 34 publications

(25 citation statements)

References 28 publications

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“…Furthermore, unilateral paratracheal (level VI) lymph node metastases, consisting of a few cells detected by immunohistochemistry were found in two MEN 2B children undergoing surgery at 3 and 12 months of life. MTC thus occurred earlier than previously reported in these patients (9,12,(15)(16)(17)(18)(19)(20)(26)(27)(28). Our findings therefore justify a thyroidectomy as early as one year of age in MEN 2A children with a RET gene mutation at codon 634 with abnormal serum calcitonin levels, and as soon as possible in those with MEN 2B syndrome.…”

Section: Discussionsupporting

confidence: 68%

“…These patients should undergo total thyroidectomy with central neck dissection, during the first months of life. At risk level 2, subjects with mutations in exons 10 (codons 609, 611, 618, 620) and 11 (codon 634) should undergo total thyroidectomy before the age of 5 years (9,12,15,16). At risk level 1, with mutations in exons 13, 14 or 15 (codons 609, 630, 768, 790, 791, 804, and 891), C cell disease may emerge later in life and thyroidectomy may be performed later in life, depending on calcitonin levels, neck ultrasound findings, family history and family preference (14).…”

Section: Introductionmentioning

confidence: 99%

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Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B

Zénaty¹,

Aigrain²,

Peuchmaur³

et al. 2009

European Journal of Endocrinology

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Results: Total thyroidectomy was performed at a median age of 0.8 year in the six patients, with central lymph node dissection in five. Bilateral millimetric medullary thyroid carcinoma (MTC) was found in all patients, with a unilateral lymph node micrometastasis in two of the three MEN 2B patients. Before thyroidectomy, MEN 2B patients had much higher basal serum calcitonin levels than those with MEN 2A and controls. After thyroidectomy, with a median follow-up of 3.3 years, the six patients had no evidence of persistent MTC. Conclusion: Bilateral millimetric MTC may be present during the first year of life in these patients, with lymph node metastases also occurring in MEN 2B patients. These results support a total thyroidectomy at the age of about one year in MEN 2A (codon 634) children with an abnormal serum calcitonin level, and a total thyroidectomy with central neck dissection within the first weeks of life in MEN 2B patients.

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Section: Discussionsupporting

confidence: 68%

Section: Introductionmentioning

confidence: 99%

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B

Zénaty¹,

Aigrain²,

Peuchmaur³

et al. 2009

European Journal of Endocrinology

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“…Thus, basal and stimulated calcitonin serum levels were measured in these individuals, as well as serum PTH, calcium, and serum/urinary cathecolamines. 8,22,67 The sensitivity of these tests was variable, and as a consequence, MTC was usually diagnosed late. This prolonged follow-up was expensive; individuals at risk were maintained in a stressing condition; survival rates were diminished, and cure was almost never achieved due to late MEN2 diagnosis and high prevalence of lymph node metastases,.…”

Section: Discussionmentioning

confidence: 99%

“…13 Genotype-phenotype correlations in MEN2 have a major and immediate impact in clinical medicine, since genetic testing may differentiate RET carriers from noncarriers. RET carriers should undergo total thyroidectomy at ages that depend on the mutated codon, 1,67 following the MEN consensus (Table 3). Conversely, noncarriers of the RET mutation should be excluded from annual clinical follow-up, an expensive and stressing procedure for patients.…”

Section: Multiple Endocrine Neoplasia Type 2b (Men2b)mentioning

confidence: 99%

“…False positives in genetic testing are exceedingly low. 1,10 All these data have generated an international consensus on MEN regarding which MTC patients should undergo surgery at ages preferably less than 5 years, depending on the mutated codon 1,67 (Table 3). At the time of writing, molecular DNA diagnosis in MEN2 has become an important tool to a) confirm clinical and laboratory diagnosis of MTC; b) identify as early as possible mutant RET carriers in premalignant stages of the disease; and c) identify noncarrier family members and rule them out for clinical follow-up.…”

Section: Multiple Endocrine Neoplasia Type 2b (Men2b)mentioning

confidence: 99%

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Impact of Ret Proto-Oncogene Analysis on the Clinical Management of Multiple Endocrine Neoplasia Type 2

Toledo

Santos

Toledo

et al. 2006

Clinics

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Toledo SPA, Cortina MA, Toledo RA, Lourenço, DM. Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics. 2006:61(1);59-70.Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, primary hyperparathyroidism, and pheochromocytoma. Multiple endocrine neoplasia type 2 is still an underdiagnosed, or late-diagnosed condition in many areas of the world. Since 1993, when the first missense RET proto-oncogene (RET) mutations were reported in MEN2, up to 46 different RET-causing disease mutations have been described. Since a strong genotype-phenotype correlation exists for MEN2, the detection of RET mutations has produced a major impact in early recognition and treatment of MTC and MEN2. Presently, RET mutation analysis should be performed for all MEN2 cases and their at-risk familial relatives. Further, prophylactic total thyroidectomy is indicated in all cases harboring activating gametic RET mutations. In most RET mutation carriers, prophylactic total thyroidectomy is indicated at ages as early as a few months to 4 years of age, promoting longer survival and improvement of quality of life or even definitive cure. We discuss the large impact of RET protooncogene analysis on the clinical management of MEN2 and the role of early RET molecular DNA diagnosis in providing clinicians and surgeons with valuable information that enables them to indicate early total thyroidectomy.

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Head and Neck Endocrine Surgery in Children

Harsha

Perkins

Lewis

et al. 2005

Arch Otolaryngol Head Neck Surg

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Objectives: To characterize children undergoing parathyroid, thyroid, and thyroglossal duct cyst surgery in 1997 and 2000 using a nationally representative discharge database to determine whether rates and outcomes of these surgical treatments vary by age, sex, and health care system attributes. Data Source: The 1997 and 2000 Kids' Inpatient Database, available through the Agency for Healthcare Research and Quality. Study Selection: All patients 18 years and younger undergoing head and neck endocrine (HNE) procedures were included. Data Extraction: The sampling scheme of this database allowed for calculation of national and regional estimates using Stata 7.0. Data Synthesis: An estimated 2077 and 1871 inpatient pediatric HNE procedures were performed nationally in 1997 and 2000, respectively. Most were performed at general (nonpediatric) teaching hospitals. There were an estimated 1102 thyroglossal duct cyst excisions, making this the most common HNE procedure and diagnosis. Thyroid lobectomy was the second most common HNE surgical treatment. Thyroid malignant neoplasm (usually treated by total thyroidectomy) was the second most common diagnosis. Neck dissections were performed in 32% of patients with thyroid malignant neoplasm. These HNE procedures accounted for more than $28 million in hospital charges in 1997 and nearly $38 million in 2000. Conclusions: Surgical treatment trends for pediatric HNE procedures remained stable between 1997 and 2000. Thyroglossal duct cyst excision and thyroid lobectomy are the most common procedures. There were regional differences in the rates of most HNE surgical treatments. In addition, hospital charges increased between 1997 and 2000.

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Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a

Cited by 34 publications

References 28 publications

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B

Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B

Impact of Ret Proto-Oncogene Analysis on the Clinical Management of Multiple Endocrine Neoplasia Type 2

Head and Neck Endocrine Surgery in Children

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