泪器原发性黏液表皮样癌。

Primary Mucoepidermoid Carcinoma of the Lacrimal Apparatus.

机构信息

From the Department of Pathology, Eye and ENT Hospital, Fudan University (H.S., R.C., C.Z., W.S., J.S., Y.B.); Department of Pathology, Fudan University Shanghai Cancer Center (H.S.), Shanghai, China.

From the Department of Pathology, Eye and ENT Hospital, Fudan University (H.S., R.C., C.Z., W.S., J.S., Y.B.).

出版信息

Am J Ophthalmol. 2022 Jul;239:170-179. doi: 10.1016/j.ajo.2022.03.008. Epub 2022 Mar 12.

DOI:10.1016/j.ajo.2022.03.008

PMID:35288069

Abstract

PURPOSE

In this study, we evaluated the clinicopathologic and molecular characteristics of lacrimal apparatus mucoepidermoid carcinoma (MEC) to define its typical diagnostic features.

DESIGN

Retrospective observational case series.

METHODS

Institutional pathology records between 2011 and 2021 were searched for all cases of lacrimal apparatus MEC.

RESULTS

A total of 2 male and 6 female patients ranging in age from 18 to 83 years (median 56, mean 54) were included. Six lacrimal apparatus MECs were found in the lacrimal gland, and 2 cases occurred in the lacrimal sac and nasolacrimal duct. Histologically, there were 6 cases of conventional MEC, 1 clear-cell variant of MEC, and 1 oncocytic variant of MEC for a total of 8 cases. There were 3 low-grade cases and 5 high-grade cases. All 8 cases were evaluated via immunohistochemistry, and the results were positive (scores 1-4) for pankeratin, 34betaE12, p63, p40, CK7, CK8, and CK19, with a relatively higher expression of p63 observed in high-grade MEC. The presence of human papillomavirus (HPV) type 6 DNA was found in 4 patients. MAML2 fluorescence in situ hybridization was positive for MAML2 rearrangement in 3 lacrimal gland tumors (2 low-grade and 1 high-grade). Six tumors were managed with radical resection, and 2 patients underwent orbital exenteration. Postoperative radiation therapy was delivered to 6 patients, and chemotherapy was administered to 1 patient.

CONCLUSIONS

MECs of the lacrimal apparatus are rare tumors, and the rate of MAML2 translocations is lower than that in salivary MECs. Lacrimal gland and lacrimal sac MECs may not be of the same subtypes intrinsically because of the difference in MAML2 translocation, anatomy, and clinical course. The etiologic function of HPV type 6 infection should be explored in lacrimal apparatus MECs. Radical surgery is the treatment of choice. The description of these unique findings may assist in the definitive diagnosis of and improve our understanding of lacrimal apparatus MEC.

摘要

目的

本研究旨在评估泪器黏液表皮样癌（MEC）的临床病理和分子特征，以明确其典型的诊断特征。

设计

回顾性观察性病例系列。

方法

在 2011 年至 2021 年期间，检索机构病理学记录以寻找所有泪器 MEC 病例。

结果

共纳入 2 名男性和 6 名女性患者，年龄 18 至 83 岁（中位数 56 岁，平均 54 岁）。6 例 MEC 发生于泪腺，2 例发生于泪囊和鼻泪管。组织学上，有 6 例常规 MEC、1 例 MEC 透明细胞变异型和 1 例 MEC 嗜酸细胞变异型，共 8 例。其中 3 例为低级别病例，5 例为高级别病例。所有 8 例均通过免疫组织化学进行评估，结果显示 pankeratin、34betaE12、p63、p40、CK7、CK8 和 CK19 阳性（评分 1-4），高级别 MEC 中 p63 的表达相对较高。4 例患者中发现人乳头瘤病毒（HPV）6 型 DNA。3 例泪腺肿瘤中 MAML2 荧光原位杂交阳性，提示 MAML2 重排（2 例低级别和 1 例高级别）。6 例肿瘤行根治性切除术，2 例行眶内容剜除术。6 例患者接受术后放疗，1 例患者接受化疗。