Medullary thyroid cancer screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

According to the American Society of Clinical Oncology, screening for medullary thyroid cancer by RET gene testing is recommended for children with increased risk of medullary thyroid cancer.

Screening

Screening for medullary thyroid cancer
The DNA-based testing of the c-RET gene
▸ Children with c-RET codon 609, 768, 790, 791, 804 and 891 mutations are more prone to less aggressive and slowly growing medullary thyroid cancer and a periodic pentagastrin-stimulated test with thyroidectomy, at the first abnormal test result, has been recommended.[1]
▸ Individuals with c-RET codon 609, 611, 618, 620, 630, 634, 790, V804L, 883, 918 or 922 mutations should be routinely screened for pheochromocytoma by annual determinations of fractionated urinary and free plasma metanephrines and catecholamines.
Adapted from Marquard J, Eng C. Multiple Endocrine Neoplasia Type 2. 1999 Sep 27 [Updated 2015 Jun 25]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1257/[2]

Reference

  1. Multiple endocrine neoplasia type2. Orphanet (30.10.2015). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=653 Accessed on October, 30, 2015
  2. Jessica Marquard & Charis Eng (1993). "Multiple Endocrine Neoplasia Type 2". PMID 020301434.