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ETV6-NTRK3 阳性腮腺乳腺样分泌癌:一例报告。

ETV6-NTRK3-positive parotid mammary analogue secretory carcinoma: a case report.

机构信息

Department of Maxillofacial and Oral Surgery, Marqués de Valdecilla University Hospital, Santander, Spain;

出版信息

Rom J Morphol Embryol. 2021 Jan-Mar;62(1):309-312. doi: 10.47162/RJME.62.1.34.

Abstract

INTRODUCTION

Mammary analogue secretory carcinoma (MASC) is a recent discovered entity of salivary glands tumors, reported for first time in 2010. The presence of a translocation encodes the ETS variant transcription factor 6-neurotrophic tyrosine receptor kinase (ETV6-NTRK3) gene fusion differences MASC from other tumors.

CASE PRESENTATION

A 68-year-old male showed a non-painful right parotid enlargement, came from dermatology service, and followed by some facial squamous cell carcinomas. A computed tomography (CT) scan showed a 1.7×1.6 cm right parotid enlargement in superficial lobe. The patient underwent a right superficial parotidectomy. The final pathology confirmed the presence of ETV6-NTRK3-positive MASC. Complete right deep parotidectomy and functional cervical emptying were performed.

DISCUSSIONS AND CONCLUSIONS

It is necessary to establish an appropriated differential diagnosis between salivary gland tumors. MASC is a low-grade malignancy cancer that sometimes can evolve to a high-grade tumor that might produce local and distance dissemination. Most times, these tumors are only treated by surgical resection and evaluating by a multidisciplinary team the need of more treatments. In our case, the patient showed a primary parotid tumor, removed surgically with free edges, and being identified as MASC. We decided to underwent neck dissection and discovered a second MASC focus on cervical salivary gland; however, there was no nodal dissemination. The patient remains disease-free after 14 months from last surgery. It is important to keep studying genetic therapy targets to ETV6-NTRK3 to obtain a new therapy line to treat those cases that require.

摘要

简介

乳腺样分泌性癌(MASC)是一种最近发现的唾液腺肿瘤实体,于 2010 年首次报道。易位的存在编码 ETS 变体转录因子 6-神经营养酪氨酸受体激酶(ETV6-NTRK3)基因融合,使 MASC 与其他肿瘤不同。

病例介绍

一名 68 岁男性出现无痛性右侧腮腺肿大,来自皮肤科,随后出现一些面部鳞状细胞癌。计算机断层扫描(CT)显示右侧腮腺浅叶 1.7×1.6 cm 肿大。患者接受了右侧腮腺浅叶切除术。最终病理证实存在 ETV6-NTRK3 阳性的 MASC。进行了完全的右侧腮腺深叶切除术和功能性颈淋巴结清扫术。

讨论和结论

有必要建立适当的唾液腺肿瘤鉴别诊断。MASC 是一种低级别恶性肿瘤,有时可能发展为高级别肿瘤,可能导致局部和远处播散。大多数情况下,这些肿瘤仅通过手术切除治疗,并由多学科团队评估是否需要更多治疗。在我们的病例中,患者出现了原发性腮腺肿瘤,手术切除边缘无肿瘤,被诊断为 MASC。我们决定进行颈部解剖,发现第二个位于颈部唾液腺的 MASC 焦点;然而,没有淋巴结转移。患者在最后一次手术后 14 个月仍无疾病。重要的是要继续研究 ETV6-NTRK3 的基因治疗靶点,以获得治疗这些需要的病例的新治疗方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04b4/8597390/3c349d975baf/RJME-62-1-309-fig1.jpg

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