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一例具有弥漫性硬化性间质和新型RET突变的沃辛样甲状腺乳头状癌：一种新实体还是一种混合性肿瘤？

A case of Warthin-like papillary thyroid carcinoma with diffuse sclerosing stroma and a novel RET mutation: a new entity or a combined tumour?

作者信息

Maffini Fausto, Lorenzini Daniele, Lepanto Daniela, De Fiori Elvio, Fumagalli Caterina, Rappa Alessandra, Tagliabue Marta, Barberis Massimo

机构信息

Department of Pathology, European Institute of Oncology, Via Ripamonti 435, 20141 Milan, Italy.

These authors contributed equally to writing this article.

出版信息

Ecancermedicalscience. 2019 Oct 2;13:965. doi: 10.3332/ecancer.2019.965. eCollection 2019.

DOI:10.3332/ecancer.2019.965
PMID:31921336
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6834387/
Abstract

Activating mutations of the gene have been described for both papillary (chromosomal rearrangement) and medullary (missense mutations) thyroid carcinomas. Here, we describe a case of a Warthin-like variant of papillary thyroid carcinoma displaying some morphological aspects that mimic the diffuse sclerosing variant. The tumour harboured V600E mutation and a novel germline point mutation in the gene, with unknown clinical and pathological meaning.

摘要

已在乳头状（染色体重排）和髓样（错义突变）甲状腺癌中描述了该基因的激活突变。在此，我们描述了一例乳头状甲状腺癌的沃辛样变体病例，其表现出一些模仿弥漫性硬化变体的形态学特征。该肿瘤存在V600E突变以及该基因中的一个新的种系点突变，其临床和病理意义尚不清楚。

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Targeted next generation sequencing identifies somatic mutations and gene fusions in papillary thyroid carcinoma.靶向二代测序可识别甲状腺乳头状癌中的体细胞突变和基因融合。
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Prognostic significance of diffuse sclerosing variant papillary thyroid carcinoma: a systematic review and meta-analysis.
弥漫性硬化型乳头状甲状腺癌的预后意义：一项系统评价和荟萃分析。
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