A Case of MEN 2B Initially Suspected in Jaw-Deformity Surgery

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  • 顎変形症の手術を契機に発見された多発性内分泌腺腫症２Ｂ型（ＭＥＮ　２Ｂ）例
  • 臨床 顎変形症の手術を契機に発見された多発性内分泌腺腫症2B型(MEN 2B)例
  • リンショウ ガク ヘンケイショウ ノ シュジュツ オ ケイキ ニ ハッケン サレタ タハツセイ ナイブンピツ センシュショウ 2Bガタ MEN 2B レイ

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Abstract

Multiple endocrine neoplasia type 2B (MEN 2B), an autosomal dominant syndrome, involves endocrine tumors caused by RET protooncogene germ-line mutations in chromosome 10. The case we report, initially suspected in jaw deformity surgery, was a 19-year-old man whose malocclusion was found in a school health checkup. In surgery, his somewhat abnormal buccal mucosa and mandible were biopsied and pathological findings indicated multiple mandibular and buccal mucosal neuromas suggesting de novo MEN 2B. Whole-body examination confirmed diagnosis, showing medullary thyroid carcinoma, megacolon, prominent corneal nerves, and mucosal tongue and lips neuromas. Gene examination showed germ-line mutations of the RET protooncogene affecting codon 918 in exon 16.<br> Medullary thyroid carcinoma was treated by total thyroidectomy with central compartment and bilateral neck dissection. Pathological analysis revealed multiple bilateral lobe cancer foci and one central-compartment lymph-node metastasis were detected pathologically. Normal calcitonin and CEA serum levels proved the biochemical cure for medullary thyroid carcinoma 7 months postoperatively.<br> MEN 2B-associated medullary thyroid carcinoma is more aggressive than that without known gene mutations, necessitating early diagnosis and close follow-up. Findings of multiple oral-cavity neuromas thus mandate examination for MEN 2B.<br>

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