American Association of Endocrine SurgeonPremonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: An exploratory analysis
Section snippets
MEN 2B patients and controls
A total of 29 patients with MEN 2B were operated on at the Medical High School Hannover (1989–1994) and the Martin Luther University Halle-Wittenberg (1994–2008), both in Germany. These 29 patients who all harbored the M918T RET germline missense mutation were prospectively recorded in a clinical MEN 2B register. Two of the 29 patients had inherited the mutation from their mothers, whereas the remaining 27 patients were the only affected family members. For the purpose of this study, the
Development of MTC
All 25 patients had developed MTC. Only 1 patient (4%) was operated on for MTC within the first year of life. All in all, MEN 2B was diagnosed at a median age of 14.0 years (range, 0.5–31.1) (ie, 3.1 years [range, 0–14] before the conduct of the study). At the time of initial neck surgery, MTCs extended beyond the thyroid capsule in 16 patients (64%), had spread to distant organs in 20 patients (80%), and involved cervical lymph nodes in 22 patients (88%).
Clinical outcome after initial neck surgery
By that time the study was conducted, 5
Discussion
Almost all MEN 2B-related symptoms develop in an age-dependent fashion, not just MTC and pheochromocytoma,15 but also oral, ocular, intestinal, and musculoskeletal stigmata.4 For early diagnosis of MEN 2B, only those clinical symptoms are useful that are present in early infancy and precede the development of metastatic MTC.
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