Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
-
Cristina Garcés Visier
,
Manuel Espinoza Vega
Abstract
Background
To describe the complications and long-term results in patients with multiple endocrine neoplasia type 2A (MEN 2A) syndrome in whom a prophylactic thyroidectomy was performed, in relation to the recommendations of the American Thyroid Association (ATA).
Methods
A retrospective study of 14 patients with MEN 2A thyroidectomized between 2000 and 2017. We reviewed demographic, clinical, analytical and radiological data. Postoperative complications and long-term follow-up were analyzed.
Results
We treated eight boys and six girls with a median age of 5 years old (range 2–10). The predominant genetic mutation belonged to codon 634 (8/14, 57.14%). Total thyroidectomy (TT) without cervical lymphadenectomy was performed in all patients. A right upper parathyroidectomy was performed in one patient due to intraoperative suspicion of increased volume. Histological study revealed no alterations. Two patients presented transient hypocalcemia postoperatively and no patient had permanent hypocalcemia or nerve damage. Pathological anatomy confirmed medullary thyroid microcarcinoma in 5/14 patients: all carrying codon 634 mutation and three of them with preoperative basal calcitonin levels <20 pg/mL. No recurrences or metastases have been detected after a mean follow-up of 8 years. A patient with codon 634 mutation developed a unilateral pheochromocytoma at 25 years of age. No patient has presented hyperparathyroidism.
Conclusions
Prophylactic thyroidectomy without cervical lymphadenectomy is an effective and safe preventive treatment in patients with MEN 2A syndrome when it is performed by experienced surgeons in reference centers.
Acknowledgments
Thanks to all the authors who helped to write this paper, and with whom I had long conversations regarding the subject of this paper. I especially remark the work of Dr. Espinoza Vega, who helped from the beginning to design the study, review published studies and write the article. The authors declare the absence of any conflict of interest.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Yu GP, Li JC, Branovan D, McCormick S, Schantz SP. Thyroid cancer incidence and survival in the national cancer institute surveillance, epidemiology, and end results race/ethnicity groups. Thyroid 2010;20:465–73.10.1089/thy.2008.0281Search in Google Scholar
2. Pappa T, Alevizaki M. Management of hereditary medullary thyroid carcinoma. Endocrine 2016;53:7–17.10.1007/s12020-016-0873-1Search in Google Scholar
3. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001;86:5658–71.10.1210/jcem.86.12.8070Search in Google Scholar
4. Skinner MA, Moley JA, Dilley WG, Owzar K, DeBenedetti MK, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 2013;353:11.10.1056/NEJMoa043999Search in Google Scholar
5. Martinez-Criado Y, Fernandez RM, Borrego S, Cabello R, Fernandez-Pineda I. Genetic disorders of pediatric MEN 2A patients in the south of Spain. Clin Transl Oncol 2014;16:1018–21.10.1007/s12094-014-1172-zSearch in Google Scholar
6. Raue F, Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics 2012;67:69–75.10.6061/clinics/2012(Sup01)13Search in Google Scholar
7. Wells Jr SA, Asa SL, Dralle H, Elisei R, Evans DB, et al. Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Carcinoma. Thyroid 2015;25:567–610.10.1089/thy.2014.0335Search in Google Scholar PubMed PubMed Central
8. Bussières V, Roy S, Deladoey J, Rousseau É, St-Vil D, et al. Prophylactic thyroidectomies in MEN2 syndrome: management and outcomes. J Pediatr Surg 2018;53:283–5.10.1016/j.jpedsurg.2017.11.015Search in Google Scholar PubMed
9. Nozhat Z, Hedayati M. Medullary thyroid carcinoma: a review on ethical considerations in treatment of children. J Pediatr Endocrinol Metab 2016;29:633–9.10.1515/jpem-2015-0309Search in Google Scholar PubMed
10. Morris LF, Waguespack SG, Edeiken-Monroe BS, Lee JE, Rich TA, et al. Ultrasonography should not guide the timing of thyroidectomy in pediatric patients diagnosed with multiple endocrine neoplasia syndrome 2A through genetic screening. Ann Surg Oncol 2013;20:53–9.10.1245/s10434-012-2589-7Search in Google Scholar PubMed PubMed Central
11. Shepet K, Alhefdhi A, Lai N, Mazeh H, Sippel R, et al. Hereditary medullary thyroid cancer: age-appropriate thyroidectomy improves disease-free survival. Ann Surg Oncol 2013;20:1451–5.10.1245/s10434-012-2757-9Search in Google Scholar PubMed PubMed Central
12. Glynn RW, Cashman EC, Doody J, Phelan E, Russell JD, et al. Prophylactic total thyroidectomy using the minimally invasive video-assisted approach in children with multiple endocrine neoplasia type 2. Head Neck 2014;36:768–71.10.1002/hed.23358Search in Google Scholar PubMed
13. Castagna MG, Fugazzola L, Maino F, Covelli D, Memmo S, et al. Reference range of serum calcitonin in pediatric population. J Clin Endocrinol Metab 2015;100:1780–4.10.1210/jc.2014-4508Search in Google Scholar PubMed
14. Viola D, Romei C, Elisei R. Medullary thyroid carcinoma in ahildren. Paediatr Thyroidol 2014;26:202–13.10.1159/000363165Search in Google Scholar
15. Pelizzo MR, Torresan F, Boschin IM, Nacamulli D, Pennelli G, et al. Early, prophylactic thyroidectomy in hereditary medullary thyroid carcinoma. Am J Clin Oncol 2015;38:508–13.10.1097/COC.0b013e3182a78fecSearch in Google Scholar PubMed
16. Elisei R, Romei C, Renzini G, Bottici V, Cosci B, et al. The timing of total thyroidectomy in RET gene mutation carriers could be personalized and safely planned on the basis of serum calcitonin: 18 years experience at one single center. J Clin Endocrinol Metab 2012;97:426–35.10.1210/jc.2011-2046Search in Google Scholar PubMed
17. Febrero B, Rodríguez JM, Ríos A, Segura P, Pérez-Sánchez B, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia 2 (MEN2) patients with the C634Y mutation: a long-term follow-up in a large single-center cohort. Eur J Surg Oncol 2019;45:625–30.10.1016/j.ejso.2018.09.002Search in Google Scholar PubMed
©2019 Walter de Gruyter GmbH, Berlin/Boston
Articles in the same Issue
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
Articles in the same Issue
- Frontmatter
- Mini Review
- Endocrine manifestations of PHACE syndrome
- Original Articles
- Quantitation of the arginine family amino acids in the blood of full-term infants perinatally in relation to their birth weight
- Effect of supplementation with omega-3 fatty acids on hypertriglyceridemia in pediatric patients with obesity
- Pediatric diabetes inpatient care: can medical staff knowledge be improved?
- Association of lipid profile and BMI Z-score in southern Iranian children and adolescents
- Arterial stiffness in children and adolescents with and without continuous insulin infusion
- Fasting during the holy month of Ramadan among older children and adolescents with type 1 diabetes in Kuwait
- Evaluation of the relationship between short-term glycemic control and netrin-1, a urinary proximal tubular injury marker in children with type 1 diabetes
- Incidence of diabetic ketoacidosis in newly diagnosed type 1 diabetes children in western Saudi Arabia: 11-year experience
- Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
- Metabolic profile, cardiovascular risk factors and health-related quality of life in children, adolescents and young adults with congenital adrenal hyperplasia
- Safety and effectiveness of growth hormone therapy in infants with Prader-Willi syndrome younger than 2 years: a prospective study
- Response to sapropterin hydrochloride (Kuvan®) in children with phenylketonuria (PKU): a clinical trial
- Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A in children: a single centre experience
- Benign thyroid nodules in pediatric patients: determining best practices for repeat ultrasound evaluations
- Letter to the Editor
- Thyroid function in males with fragile X syndrome
- Case Reports
- A case of a severe reaction following the use of bisphosphonates in a patient with osteogenesis imperfecta
- Cushing disease in a patient with nonbullous congenital ichthyosiform erythroderma: lessons in avoiding glucocorticoids in ichthyosis
- Contiguous gene deletion in a Chinese family with X-linked nephrogenic diabetes insipidus: challenges in early diagnosis and implications for affected families
