Abstract
Objective To discuss clinical characteristics,treatment and clinical significance for RET screening in 3 multiple endocrine neoplasia type 2A (MEN2A) pedigrees.Methods The clinical data of 10 MEN2A patients from 3 unrelated MEN2A pedigrees from April 1990 to December 2011 were analyzed.There were 4 males and 6 females.5 patients with symptomatic palpable neck masses underwent bilateral total thyroidectomy + bilateral neck lymph node dissection.Other 5 RET screening detected asymptomatic thyroid cancer patients underwent bilateral total thyroidectomy + bilateral level Ⅵ lymph node dissection.6 adrenal pheochromocytoma (PHEO) patients received bilateral adrenalectomy (5 cases) or unilateral adrenalectomy (1 case).23 members from 3 families agreed to participate in biochemical testing,image examinations and RET screening.Results Histopathology revealed bilateral medullary thyroid carcinoma (MTC) in all 10 patients (100%).The two groups (symptomatic and asymptomatic) have significantly differences from the first diagnostic age [39.0 (31-64) years vs.18.2 (5.5-36) years],tumor maximum diameter [2.8 (1.2-5.6) cm vs.0.7 (0.2-1.3) cm] and positive lymph node metastatic ratio [100% (5/5) vs.20% (1/5)] (P < 0.05).These MTC cases were followed-up for 7-66 months,postoperative calcitonin still positive in all 5 preoperatively symptomatic patients,while in only 1 preoperatively asymptomatic patient (P < 0.05).PHEO was bilateral,multiple in 5 patients and unilateral multiple in 1 patient.Postoperatively 3 patients need lifelong steroid substitution.19-104 months follow-up found no recurrence or metastasis.RET screening showed a missense mutations of TGC to TAC (p.C634Y)at codon 634 on exon 11 in all 10 patients,and a patient was diagnosed as having de novo MEN2A.Conclusions Based on RET screening and serum calcitonin monitoring,early and radical surgery can cure MEN2A related MTC; One stage bilateral laparoscopic cortical-sparing adrenalectomy is recommended for bilateral PHEO in MEN2A patients. Key words: Multiple endocrine neoplasia type 2a; Thyroid neoplasms ; Pheochromocytoma; Proto-oncogene ; Point mutation
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have