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本文引用的文献

1
The Myoepithelial Cells of Salivary Intercalated Duct-type Intraductal Carcinoma Are Neoplastic: A Study Using Combined Whole-slide Imaging, Immunofluorescence, and RET Fluorescence In Situ Hybridization.涎腺闰管型腔内癌的肌上皮细胞具有肿瘤性:采用全切片成像、免疫荧光和 RET 荧光原位杂交技术的研究。
Am J Surg Pathol. 2021 Apr 1;45(4):507-515. doi: 10.1097/PAS.0000000000001605.
2
Expanding the Molecular Spectrum of Secretory Carcinoma of Salivary Glands With a Novel VIM-RET Fusion.扩展唾液腺癌的分子谱,发现一种新型的 VIM-RET 融合。
Am J Surg Pathol. 2020 Oct;44(10):1295-1307. doi: 10.1097/PAS.0000000000001535.
3
Salivary Intraductal Carcinoma Arising within Intraparotid Lymph Node: A Report of 4 Cases with Identification of a Novel STRN-ALK Fusion.腮腺内淋巴结内涎腺导管内癌:4 例伴有新型 STRN-ALK 融合的报告。
Head Neck Pathol. 2021 Mar;15(1):179-185. doi: 10.1007/s12105-020-01198-0. Epub 2020 Jul 13.
4
Clinicopathological study of intraductal carcinoma of the salivary gland, with emphasis on the apocrine type.涎腺导管内癌的临床病理研究,重点为大汗腺癌型。
Virchows Arch. 2020 Oct;477(4):581-592. doi: 10.1007/s00428-020-02823-7. Epub 2020 May 7.
5
Low-grade Apocrine Intraductal Carcinoma: Expanding the Morphologic and Molecular Spectrum of an Enigmatic Salivary Gland Tumor.低级别大汗腺型导管内癌:扩展神秘涎腺肿瘤的形态学和分子谱。
Head Neck Pathol. 2020 Dec;14(4):869-875. doi: 10.1007/s12105-020-01128-0. Epub 2020 Jan 27.
6
Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods.基于读长比对和从头拼接融合转录本的融合转录本检测准确性评估。
Genome Biol. 2019 Oct 21;20(1):213. doi: 10.1186/s13059-019-1842-9.
7
Novel therapeutic targets in salivary duct carcinoma uncovered by comprehensive molecular profiling.全面分子分析揭示唾液腺癌的新治疗靶点。
Cancer Med. 2019 Dec;8(17):7322-7329. doi: 10.1002/cam4.2602. Epub 2019 Oct 14.
8
Sclerosing Polycystic "Adenosis" of Salivary Glands: A Neoplasm Characterized by PI3K Pathway Alterations More Correctly Named Sclerosing Polycystic Adenoma.唾液腺硬化性多囊“腺瘤病”:一种以 PI3K 通路改变为特征的肿瘤,更名为硬化性多囊性腺瘤。
Head Neck Pathol. 2020 Sep;14(3):630-636. doi: 10.1007/s12105-019-01088-0. Epub 2019 Oct 11.
9
Histopathological evaluation of minor salivary gland papillary-cystic tumours: focus on genetic alterations in sialadenoma papilliferum and intraductal papillary mucinous neoplasm.涎腺导管内乳头状黏液性肿瘤和涎腺乳头状囊腺瘤的组织病理学评估:关注基因改变。
Histopathology. 2020 Feb;76(3):411-422. doi: 10.1111/his.13990. Epub 2019 Dec 1.
10
Salivary Sialadenoma Papilliferum Consists of Two Morphologically, Immunophenotypically, and Genetically Distinct Subtypes.涎腺乳头囊腺瘤由两种在形态学、免疫表型和遗传学上均明显不同的亚型组成。
Head Neck Pathol. 2020 Jun;14(2):489-496. doi: 10.1007/s12105-019-01068-4. Epub 2019 Aug 31.

唾液腺的嗜酸细胞型导管内癌:具有 TRIM33-RET 融合和 BRAF V600E 突变的独特变异型。

Oncocytic intraductal carcinoma of salivary glands: a distinct variant with TRIM33-RET fusions and BRAF V600E mutations.

机构信息

Department of Pathology, UT Southwestern Medical Center, Dallas, TX, USA.

Departments of Pathology and Laboratory Medicine, Nagoya University Hospital, Nagoya, Japan.

出版信息

Histopathology. 2021 Sep;79(3):338-346. doi: 10.1111/his.14296. Epub 2021 Mar 31.

DOI:10.1111/his.14296
PMID:33135196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8315294/
Abstract

AIMS

Salivary gland intraductal carcinoma (IDC) is a complex ductal neoplasm surrounded by a layer of myoepithelial cells. Recent insights have shown that there are three different types: intercalated duct-like, with frequent NCOA4-RET fusions; apocrine, with salivary duct carcinoma-like mutations; and mixed intercalated duct-like/apocrine, with RET fusions, including TRIM27-RET. In addition, an oncocytic IDC has been described, but it remains unclear whether it represents a fourth variant or simply oncocytic metaplasia of another IDC type. Our aim was to more completely characterize oncocytic IDC.

METHODS AND RESULTS

Six IDCs with oncocytic changes were retrieved from the authors' archives, from three men and three women ranging in age from 45 to 75 years (mean, 63 years). Five arose in the parotid gland, with one in an accessory parotid gland. Four patients with follow-up were free of disease after 1-23 months. Several immunostains (S100, mammaglobin, androgen receptor, and p63/p40) and molecular tools (RNA sequencing, RET fluorescence in-situ hybridisation, BRAF V600E VE1 immunohistochemistry, and Sanger sequencing) were applied. Histologically, the tumours were variably cystic with solid intracystic nodules often difficult to recognise as intraductal. In all, tumour ducts were positive for S100 and mammaglobin, negative for androgen receptor, and completely surrounded by myoepithelial cells positive for p63/p40. Molecular analysis revealed TRIM33-RET in two of six cases, NCOA4-RET in one of six cases, and BRAF V600E in two of six cases. One case had no identifiable alterations.

CONCLUSIONS

Oncocytic IDC shares similarities with intercalated duct-like IDC. Although additional verification is needed, the oncocytic variant appears to be sufficiently unique to be now regarded as the fourth distinct subtype of IDC. Because of its indolent nature, oncocytic IDC should be distinguished from histological mimics.

摘要

目的

唾液腺导管内癌(IDC)是一种复杂的导管性肿瘤,周围环绕着一层肌上皮细胞。最近的研究表明,IDC 有三种不同的类型:具有高频 NCOA4-RET 融合的闰管样型;具有唾液腺癌样突变的大汗腺型;以及具有 RET 融合的混合闰管样/大汗腺型,包括 TRIM27-RET。此外,还描述了一种嗜酸细胞性 IDC,但它是否代表第四种变异型,还是另一种 IDC 类型的嗜酸细胞化生尚不清楚。我们的目的是更全面地描述嗜酸细胞性 IDC。

方法和结果

从作者的档案中检索到 6 例具有嗜酸细胞改变的 IDC,患者为 3 男 3 女,年龄 45 至 75 岁(平均 63 岁)。5 例发生于腮腺,1 例发生于副腮腺。4 例有随访的患者在 1-23 个月后无疾病。应用了多种免疫组化染色(S100、乳球蛋白、雄激素受体和 p63/p40)和分子工具(RNA 测序、RET 荧光原位杂交、BRAF V600E VE1 免疫组化和 Sanger 测序)。组织学上,肿瘤呈不同程度的囊性,实性腔内结节常难以识别为腔内。总之,肿瘤导管 S100 和乳球蛋白阳性,雄激素受体阴性,完全被 p63/p40 阳性的肌上皮细胞环绕。分子分析显示,6 例中有 2 例存在 TRIM33-RET,6 例中有 1 例存在 NCOA4-RET,6 例中有 2 例存在 BRAF V600E。1 例无可识别的改变。

结论

嗜酸细胞性 IDC 与闰管样 IDC 具有相似性。尽管需要进一步验证,但该嗜酸细胞变异型似乎足够独特,现在可以被视为 IDC 的第四种独特亚型。由于其惰性性质,嗜酸细胞性 IDC 应与组织学模拟物区分开来。