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Criteria for DNA analysis for MEN2/FMTC

Criteria for DNA analysis for MEN2/FMTC
Germline RET mutation analysis should be performed:
In patients with:
1. Clinically proven MEN2 syndrome: bilateral, multicentric MTC, and/or pheochromocytoma
2. MTC or pheochromocytoma and a family member with MTC or pheochromocytoma
3. Apparently sporadic MEN2 related tumors and:
a. Age younger than 35 years and/or
b. Multicentric tumors in one organ and/or
c. Two different organs affected
First- and second-degree family members of MEN2 patients
Patients with apparently sporadic MTC
Refer to UpToDate topic on the clinical manifestations and diagnosis of multiple endocrine neoplasia type 2.
MEN2: multiple endocrine neoplasia type 2; FMTC: familial medullary thyroid cancer; MTC: medullary thyroid cancer.
Data from:
  1. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001; 86:5658.
  2. Machens A, Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007; 31:957.
  3. Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid 2015; 25:567.
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