Prolonged survival of a patient with multiple endocrine neoplasia type 2b and stage IV medullary thyroid carcinoma.
OBJECTIVE
To present a case of multiple endocrine neoplasia type 2B (MEN2B) with a prolonged course.


METHODS
We describe the clinical, laboratory, and radiologic findings in a patient with MEN2B and review the various interventions during a period of approximately 3 decades.


RESULTS
In 1962, a 19-year-old man with a marfanoid body habitus presented with multiple thyroid nodules and neurofibromas of the tongue. Total thyroidectomy demonstrated multicentric medullary thyroid carcinoma with cervical lymph node metastatic involvement. At the time of the first description of the MEN2B syndrome, the patient was enrolled in a surveillance program. An increase in urinary metanephrines resulted in bilateral adrenalectomy for multinodular pheochromocytoma in 1972. Increased serum calcitonin levels and the appearance of cervical lymphadenopathy led to modified radical neck dissection 12 years after the initial diagnosis of medullary thyroid carcinoma. In 1975, angiography revealed extensive hepatic lesions metastatic from the medullary thyroid carcinoma; this finding was confirmed by open liver biopsy in 1988. The patient lived 16 years after the initial diagnosis of liver metastatic disease and died 29 years after the initial examination.


CONCLUSIONS
The 3-decade course of this patient not only represents a classic case of MEN2B but also allows us to present the history of this disease from its discovery to the current era of genetic testing and exemplifies the possibility of long-term survival in a patient with liver metastatic involvement from medullary thyroid carcinoma.
Mózes
Géza
G
Department of Surgery, Mayo Clinic and Mayo Foundation, Rochester, Minnesota 55905, USA.
van Heerden
Jon A
JA
Gharib
Hossein
H
D000328:Adult; D020295:Brain Stem Neoplasms / Q000150:complications / Q000473:pathology / Q000628:therapy*; D002116:Calcitonin / Q000097:blood; D017809:Fatal Outcome; D006801:Humans; D008113:Liver Neoplasms / Q000000981:diagnostic imaging / Q000556:secondary; D008279:Magnetic Resonance Imaging; D008297:Male; D008676:Metanephrine / Q000652:urine; D018813:Multiple Endocrine Neoplasia Type 2a / Q000150:complications / Q000473:pathology / Q000628:therapy*; D011859:Radiography; D017741:Survivors; D013964:Thyroid Neoplasms / Q000150:complications / Q000473:pathology / Q000628:therapy*; D013965:Thyroidectomy
D008676:Metanephrine; D002116:Calcitonin