IllnessThyroid carcinoma, hereditary medullary; differential diagnosis

NGS +

[Sanger]

Familial medullary thyroid carcinoma is a subtype of multiple endocrine neoplasia 2 (MEN2). Clinical features may include a lump in the neck or neck pain and diarrhea due to elevated calcitonin levels. Mutation carriers are less likely to develop other MEN2 tumors such as pheochromocytoma and parathyroid hyperplasia. Medullary thyroid carcinoma is transmitted autosomal dominantly and, due to genetic variants, occurs either in the RET (or much less frequently in the NTRK1) proto-oncogene, with a diagnostic yield >95%. Nevertheless, an inconspicuous genetic finding does not mean an absolutely reliable exclusion of the suspected clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1257/

• Alias: Familial medullary thyroid carcinoma
• Alias: Multiple endocrine neoplasia type 2, MEN2
• Allelic: Deafness, AR (MET)
• Allelic: Hepatocellular carcinoma, childhood type, somatic (MET)
• Allelic: Insensitivity to pain, congenital, with anhidrosis (NTRK1)
• Allelic: Osteofibrous dysplasia, susceptibility to (MET)
• Allelic: Ovarian dysgenesis 8 (ESR2)
• Allelic: Renal cell carcinoma, papillary, 1, familial and somatic (MET)
• Medullary thyroid carcinoma (NTRK1, RET)
• Medullary thyroid carcinoma [1 case each] (ESR2, MET)
• Multiple endocrine neoplasia IIA (RET)