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Prophylactic thyroidectomy, based on direct genetic testing, in patients at risk for the multiple endocrine neoplasia

S A Wells1, M A Skinner

  • 1Department of Surgery, Washington University School of Medicine, St. Louis, Missouri 61330, USA.

Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [And] German Diabetes Association
|March 27, 1998
PubMed

Insights

Prophylactic thyroidectomy is recommended for patients with Multiple Endocrine Neoplasia (MEN) type 2A to prevent medullary thyroid carcinoma (MTC). This study shows it is safe and effective, with no MTC recurrence in patients who underwent the surgery.

Area of Science:

  • Oncology
  • Genetics
  • Endocrinology

Background:

  • Germline mutations in the RET protooncogene cause Multiple Endocrine Neoplasia (MEN) syndromes types 2A and 2B.
  • Prophylactic thyroidectomy is recommended for MEN patients to prevent medullary thyroid carcinoma (MTC).

Purpose of the Study:

  • To present medium-term follow-up results of prophylactic thyroidectomy in patients with MEN 2A.
  • To evaluate the safety and efficacy of prophylactic thyroidectomy in preventing MTC in MEN 2A patients.

Main Methods:

  • 18 patients with MEN 2A underwent prophylactic thyroidectomy based on direct DNA testing for RET gene mutations.
  • Medium-term follow-up included biochemical testing and assessment for MTC recurrence.

Main Results:

  • No operative complications were reported.
  • Medullary thyroid carcinoma (MTC) was present in 14 (78%) of the resected patients.
  • No patients had MTC metastasis to regional lymph nodes, and no residual or recurrent MTC was detected at three years' follow-up.

Conclusions:

  • Prophylactic thyroidectomy is an effective and safe management strategy for MTC in MEN 2A patients.
  • Early DNA testing for RET gene mutations enables timely prophylactic thyroidectomy.

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