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Prophylactic thyroidectomy in children with multiple endocrine neoplasia type 2

F P Prete1,2, T Abdel-Aziz1,3, C Morkane1

  • 1Division of Endocrine Surgery, University College Hospital and Great Ormond Street Hospital, London, UK.

The British Journal of Surgery
|April 18, 2018
PubMed
Abstract

Insights

Early genetic testing for multiple endocrine neoplasia type 2 (MEN2) is crucial for timely thyroidectomy. Delayed testing increases medullary thyroid cancer (MTC) risk and complications, highlighting the need for age-appropriate surgery.

Area of Science:

  • Endocrinology
  • Pediatric Surgery
  • Genetics

Background:

  • Multiple endocrine neoplasia type 2 (MEN2) syndrome requires genetic testing for early diagnosis and risk stratification of medullary thyroid cancer (MTC).
  • The effectiveness of prophylactic thyroidectomy in MEN2 patients depends on timely and safe surgical intervention, which is not well-established.

Purpose of the Study:

  • To evaluate the diagnostic and clinicopathological outcomes of prophylactic thyroidectomy in children with MEN2.
  • To assess the impact of genetic testing timing and adherence to American Thyroid Association (ATA) guidelines on surgical outcomes and complications.

Main Methods:

  • Retrospective review of 79 children with MEN2 who underwent prophylactic thyroidectomy between 1995 and 2013 in the UK.
  • Analysis of genetic testing results, surgical timing relative to ATA 2009 guidelines, pathological findings, and post-operative complications including hypocalcaemia and hypoparathyroidism.

Main Results:

  • 48% of patients had genetic testing, and 46% underwent surgery after the recommended age.
  • Medullary thyroid cancer (MTC) was found in 38% of patients, correlating with late genetic testing and surgery.
  • Lymphadenectomy was associated with increased parathyroid gland excision, higher rates of hypocalcaemia, and permanent hypoparathyroidism.

Conclusions:

  • Late genetic testing in MEN2 patients can lead to delayed surgery, increasing the risk of developing MTC.
  • Early genetic testing and age-appropriate thyroidectomy are recommended to avoid unnecessary lymphadenectomy and improve patient outcomes.

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