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1例伴有RET原癌基因种系突变的甲状腺髓样癌和乳头状癌同时发生淋巴结转移

Concurrent lymph node metastases of medullary and papillary thyroid carcinoma in a case with RET oncogene germline mutation.

作者信息

Papi G, Corrado S, Pomponi M G, Carapezzi C, Cesinaro A, LiVolsi V A

机构信息

Department of Internal Medicine, ASL Modena, University of Modena, Italy.

出版信息

Endocr Pathol. 2003 Fall;14(3):269-76. doi: 10.1007/s12022-003-0020-4.

Abstract

We report the case of a 72 yr-old woman who underwent total thyroidectomy and resection of neck lymph nodes because of a firm nodule in the right lobe, which was consistent with medullary thyroid carcinoma (MTC) on cytological examination. Histology showed multifocal bilateral MTC; a 2 mm papillary thyroid carcinoma (PTC) was also detected in the right lobe, next to a focus of MTC; five cervical lymph nodes contained MTC. In one right perithyroidal lymph node, concurrent metastases of MTC and PTC were demonstrated. DNA analysis showed a point mutation in exon 14 at codon 804 of the RET proto-oncogene locus, as frequently found in cases of familial MTC (FMTC). To our knowledge, this case represents the first documented case of concurrent lymph node metastases of MTC and PTC in a patient with RET proto-oncogene germline mutation. We report this unique case, discuss related thyroid malignancies, and suggest possible underlying pathogenetic mechanisms.

摘要

我们报告了一例72岁女性患者的病例,该患者因右叶出现一个质地坚硬的结节而接受了全甲状腺切除术及颈部淋巴结清扫术,细胞学检查显示该结节符合甲状腺髓样癌(MTC)。组织学检查显示为多灶性双侧MTC;在右叶MTC病灶旁还检测到一个2mm的甲状腺乳头状癌(PTC);五个颈部淋巴结含有MTC。在一个右侧甲状腺周围淋巴结中,同时发现了MTC和PTC的转移灶。DNA分析显示RET原癌基因位点第14外显子804密码子处存在点突变,这在家族性MTC(FMTC)病例中较为常见。据我们所知,该病例是首例记录在案的具有RET原癌基因种系突变患者同时发生MTC和PTC淋巴结转移的病例。我们报告这一独特病例,讨论相关的甲状腺恶性肿瘤,并提出可能的潜在发病机制。

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