Wills Eye Hospital, Philadelphia, Pennsylvania, U.S.A.
Department of Pathology, Thomas Jefferson University, Philadelphia, Pennsylvania, U.S.A.
Ophthalmic Plast Reconstr Surg. 2019 Mar/Apr;35(2):e41-e43. doi: 10.1097/IOP.0000000000001311.
Integrase interactor 1 (INI1) is a tumor suppressor gene that is ubiquitously expressed in all nucleated cells. The loss of INI1 protein activity was first demonstrated in aggressive pediatric tumors, including atypical teratoid/rhabdoid (AT/RT) tumor of the central nervous system and malignant rhabdoid tumor of the kidney. Subsequently, INI1 deficiency was discovered in other pediatric and some adult neoplasms. The spectrum of INI1-negative tumors includes a wide variety of neoplasms that occur over a wide age range, are variably aggressive, and have a variable rhabdoid component on histopathologic evaluation. In this report, the authors describe a 27-year-old gravid woman with INI1-deficient carcinoma of the lacrimal gland, previously not described in this location.
整合酶相互作用蛋白 1（INI1）是一种肿瘤抑制基因，在所有有核细胞中广泛表达。INI1 蛋白活性的丧失首先在侵袭性儿科肿瘤中得到证实，包括中枢神经系统的非典型畸胎瘤/横纹肌样瘤（AT/RT）和肾恶性横纹肌样瘤。随后，在其他儿科肿瘤和一些成人肿瘤中发现了 INI1 缺失。INI1 阴性肿瘤的范围包括广泛的肿瘤，发生在广泛的年龄范围，侵袭性不同，在组织病理学评估中具有不同程度的横纹肌样成分。在本报告中，作者描述了一例 27 岁孕妇患有泪腺 INI1 缺失性癌，此前该部位尚未有报道。
