Criteria for DNA analysis for MEN2 syndrome

Germline RET mutation analysis should be performed:

In patients with:

Clinically proven MEN2 syndrome: bilateral, multicentric MTC, and/or pheochromocytoma
MTC or pheochromocytoma and a family member with MTC or pheochromocytoma
Apparently sporadic MEN2 related tumors and:
1. Age younger than 35 years and/or
2. Multicentric tumors in one organ and/or
3. 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.

FMTC: familial medullary thyroid cancer; MEN2: multiple endocrine neoplasia type 2; MTC: medullary thyroid cancer.

Data from:

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.
Machens A, Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 2007; 31:957.
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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