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Pathology Forum
May 2001

Diagnosis Quiz Case 1

Author Affiliations


Arch Otolaryngol Head Neck Surg. 2001;127(5):596-597. doi:

Recent advances in molecular pathology have provided an increased understanding of the molecular genetics of MEN-2 syndromes and their association with mutations in the RET proto-oncogene.1 These advances, in turn, have translated into more effective clinical treatment of patients with familial forms of MTC.1,2 Most familial cases of MTC can now be recognized and removed during their earliest stages, before they have metastasized. Testing for germline mutations of the RET proto-oncogene represents one of the greatest triumphs of molecular-genetic–based diagnostic medicine.1-3

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