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一名13岁台湾男孩患腮腺罕见恶性肿瘤:涎腺乳腺样分泌癌病例报告及分子研究

A rare malignancy of the parotid gland in a 13-year-old Taiwanese boy: case report of a mammary analogue secretory carcinoma of the salivary gland with molecular study.

作者信息

Hwang Michael J, Wu Pei Ru, Chen Chih-Ming, Chen Chia-Yu, Chen Chih-Jung

机构信息

Department of Surgical Pathology, Changhua Christian Hospital, 135 Nanxiao Street, Changhua, Taiwan, ROC.

出版信息

Med Mol Morphol. 2014 Mar;47(1):57-61. doi: 10.1007/s00795-013-0051-y. Epub 2013 Aug 18.

DOI:10.1007/s00795-013-0051-y
PMID:23955668
Abstract

Mammary analogue secretory carcinoma (MASC) is a recently described malignancy of the salivary glands characterized by an ETV6-NTRK3 (EN) fusion gene. Morphologically, MASC is sometimes difficult to distinguish from acinic cell carcinoma. Consequently, identifying the chromosomal translocation is essential for diagnosis. We present a case of parotid gland MASC in a 13-year-old boy. To the best of our knowledge, this is the youngest case reported in the literature. Histologic evaluation showed a tumor composed of microcysts, tubular structures, solid nests, or papillary architecture, with secretions within the lumens of the cysts or tubules. Immunohistochemically, tumor cells showed diffuse positive staining of S-100 protein, cytokeratin 19, and vimentin. ETV6 rearrangement was detected by fluorescence in situ hybridization and EN fusion transcripts were verified by reverse transcription (RT-PCR) assay.

摘要

乳腺样分泌性癌(MASC)是一种最近被描述的唾液腺恶性肿瘤,其特征是存在ETV6-NTRK3(EN)融合基因。在形态学上,MASC有时难以与腺泡细胞癌区分开来。因此,识别染色体易位对于诊断至关重要。我们报告了一例13岁男孩腮腺MASC的病例。据我们所知,这是文献中报道的最年轻病例。组织学评估显示肿瘤由微囊肿、管状结构、实性巢状或乳头状结构组成,囊肿或小管腔内有分泌物。免疫组织化学检查显示,肿瘤细胞S-100蛋白、细胞角蛋白19和波形蛋白呈弥漫性阳性染色。通过荧光原位杂交检测到ETV6重排,并通过逆转录(RT-PCR)分析验证了EN融合转录本。

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Mod Pathol. 2012 Jul;25(7):919-29. doi: 10.1038/modpathol.2012.57. Epub 2012 Mar 30.
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Clinicopathological characterization of mammary analogue secretory carcinoma of salivary glands.
涎腺分泌性癌——小儿病例报告及病例系列的系统评价
J Oral Maxillofac Pathol. 2021 May-Aug;25(2):327-331. doi: 10.4103/0973-029X.325236. Epub 2021 Aug 31.
4
Clinicopathologic and Molecular Characterization of Four Cases of Pediatric Salivary Secretory Carcinoma (SSC), One with ETV6-RET Fusion.四例儿童涎腺分泌癌(SSC)的临床病理和分子特征,其中一例具有 ETV6-RET 融合。
Head Neck Pathol. 2021 Sep;15(3):796-802. doi: 10.1007/s12105-021-01288-7. Epub 2021 Jan 18.
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(Mammary Analogue) Secretory Carcinoma of the Nasal Cavity: Report of a Rare Case with p63 and DOG1 Expression and Uncommon Exon 4-Exon 14 ETV6-NTRK3 Fusion Diagnosed with Next Generation Sequencing.(乳腺样)鼻腔分泌性癌:p63 和 DOG1 表达及罕见的外显子 4-外显子 14 ETV6-NTRK3 融合的罕见病例报告,该融合通过下一代测序诊断。
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Am J Surg Pathol. 2012 Jan;36(1):27-34. doi: 10.1097/PAS.0b013e318231542a.
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