title: Multiple endocrine neoplasia type 2B in a Chinese patient.
abstract: Multiple endocrine neoplasia type 2B syndrome is rarely reported in Chinese patients. A 25-year-old Chinese male presented with full-blown clinical features of this syndrome, including bilateral phaeochromocytomas, medullary thyroid carcinoma, and characteristic phenotypic features. One-stage surgical treatment was performed and subsequent genetic analysis confirmed a point mutation at codon 918 in exon 16 of the RET proto-oncogene. The mutation was arising de novo as there was no corresponding mutation found in both his parents or younger sister. Data published to date suggest there is no difference in the genetic and pathophysiologic basis, nor clinical characteristics of multiple endocrine neoplasia type 2B in Chinese patients. As the disease can be lethal, early diagnosis by prompt recognition of the characteristic phenotypic features followed by surgical treatment should improve the outcome. Family screening is essential to identify at-risk family members for prophylactic treatment.
authors.affiliation: Division of Endocrine Surgery, Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong.
authors.forename: A
authors.initials: A
authors.lastname: Chang
authors.forename: W F
authors.initials: WF
authors.lastname: Chan
authors.forename: C Y
authors.initials: CY
authors.lastname: Lo
authors.forename: K S L
authors.initials: KS
authors.lastname: Lam
mesh_terms: D000315:Adrenalectomy; D000328:Adult; D044466:Asian People; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D018814:Multiple Endocrine Neoplasia Type 2b / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery*; D037981:Neck Dissection; D017354:Point Mutation; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D013965:Thyroidectomy
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases