Gervasio Kalla A, Zhang Paul J L, Penne Robert B, Stefanyszyn Mary A, Eagle Ralph C, Puthiyaveettil Raghunath, Milman Tatyana
Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Department of Pathology and Laboratory Medicine, Hospital of The University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Ocul Oncol Pathol. 2020 Mar;6(2):138-144. doi: 10.1159/000502699. Epub 2019 Sep 20.
The aim of this study was to assess whether mucoepidermoid carcinoma of the lacrimal sac is a counterpart of gene fusion-related salivary gland mucoepidermoid carcinoma.
In this retrospective observational case series, pathology records were searched for all cases of lacrimal sac mucoepidermoid carcinoma diagnosed between 1990 and 2018. Data collected included demographics, clinical findings, management, and follow-up. Pathologic parameters assessed included tumor morphology, immunohistochemistry, and and fluorescence in situ hybridization (FISH) studies.
Six patients with mucoepidermoid carcinoma of the lacrimal sac, 5 males and 1 female, with a median age of 63 years (range 24-66) were identified. Five tumors were managed with radical resection and 1 patient underwent orbital exenteration. None of the patients developed recurrence or metastases with an average follow-up of 18 months (range 13-23). All tumors had morphologic and immunohistochemical features of mucoepidermoid carcinoma and overexpressed EGFR. FISH was negative for rearrangement in all tumors. FISH demonstrated amplification in 1 tumor.
Mucoepidermoid carcinoma of the lacrimal sac is not a lacrimal sac counterpart of gene fusion-related salivary gland mucoepidermoid carcinoma. pathway activation and amplification in a subset of these neoplasms suggest the potential role for anti-EGFR agents.
本研究旨在评估泪囊黏液表皮样癌是否为与基因融合相关的涎腺黏液表皮样癌的对应物。
在这个回顾性观察病例系列中,检索了1990年至2018年间诊断的所有泪囊黏液表皮样癌病例的病理记录。收集的数据包括人口统计学、临床发现、治疗和随访情况。评估的病理参数包括肿瘤形态、免疫组织化学以及荧光原位杂交(FISH)研究。
确定了6例泪囊黏液表皮样癌患者,5例男性和1例女性,中位年龄63岁(范围24 - 66岁)。5例肿瘤接受了根治性切除,1例患者接受了眶内容摘除术。平均随访18个月(范围13 - 23个月),所有患者均未出现复发或转移。所有肿瘤均具有黏液表皮样癌的形态学和免疫组织化学特征,且表皮生长因子受体(EGFR)过表达。所有肿瘤的FISH检测均未发现 重排呈阴性。FISH检测显示1例肿瘤有 扩增。
泪囊黏液表皮样癌并非与基因融合相关的涎腺黏液表皮样癌在泪囊的对应物。这些肿瘤亚群中的 通路激活和 扩增提示了抗EGFR药物的潜在作用。