Department of Ophthalmology and Visual Sciences; Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.
Royal Alexandra Hospital, 2319 -10240 Kingsway Avenue NW, Edmonton, AB, T5H 3V9, Canada.
BMC Ophthalmol. 2020 Oct 14;20(1):410. doi: 10.1186/s12886-020-01685-6.
Primary cutaneous signet-ring cell/histiocytoid carcinoma of the eyelid is an extremely rare but aggressive neoplasm diagnosed primarily in elderly men. Until now there are 32 published cases of signet-ring cell carcinoma or histiocytoid carcinoma of the eyelid. We report the clinical, radiographic and histological features of the 33rd reported case of PCSRCC in the eyelid of a 73-year-old male, and review diagnostic and treatment challenges of this rare entity.
Our case highlights a 73-year-old male who was referred for surgical correction of right eye ptosis that was present for 2 years. Upon assessment, he was noted to have an upper lateral orbital rim mass. Computed tomography (CT) noted ill-defined soft tissue thickening anterior to the right globe, predominantly pre-septal but with slight post-septal extension. The pathology revealed diffusely and deeply infiltrating tumour cells extending through the dermis, subcutis, orbicularis muscle bundles and nerve fibers; the tumour cells were noted to have a monotonous histiocytoid appearance with foamy granular eosinophilic cytoplasm. At high magnification, intracytoplasmic vacuoles and occasional intermixed signet ring cells were identified. Immunohistochemical staining revealed the tumour cells to be AE1/AE3, CK7, GCDFP-15, E-cadherin, androgen receptor stain and GATA3 positive. Final pathology report confirmed the diagnosis of primary cutaneous signet-ring cell/histiocytoid carcinoma. Further imaging failed to identify a distant primary malignancy or metastatic disease. The decision was made to attempt surgical excision of the tumor. After the bulk of the grossly apparent tumor was removed, intraoperative frozen sections were sent. Superficial biopsies of the right periorbital region were performed, which revealed extension significantly further than the gross disease. Thereafter, the patient underwent a wide orbital exenteration with reconstruction using a temporary split-thickness skin graft. Due to positive margins on final permanent sections, the patient underwent further wide resection with free muscle-skin flap reconstruction followed by adjuvant radiation treatment.
Our case represents the 33rd case of primary signet-ring cell/histiocytoid carcinoma of the eyelid in a 73-year-old male, the first documented case with GATA3 positivity and the second documented case with androgen receptor stain positivity.
原发性皮肤扣状细胞/组织细胞样癌眼睑是一种极其罕见但具有侵袭性的肿瘤，主要发生在老年男性。到目前为止，已经有 32 例关于眼睑扣状细胞癌或组织细胞样癌的报道。我们报告了第 33 例原发性皮肤扣状细胞/组织细胞样癌眼睑的临床、放射影像学和组织学特征，并回顾了这种罕见实体的诊断和治疗挑战。
我们的病例突出了一位 73 岁的男性，他因右眼上睑下垂 2 年而被转介进行手术矫正。评估时，他被发现有一个眶外侧上缘肿块。计算机断层扫描（CT）显示右眼球前有界限不清的软组织增厚，主要是前隔，但有轻微的后隔延伸。病理显示肿瘤细胞弥漫性和深部浸润真皮、皮下组织、眼轮匝肌束和神经纤维；肿瘤细胞具有单调的组织细胞样外观，细胞质呈泡沫状颗粒状嗜酸性。高倍镜下，可识别出细胞质内空泡和偶尔混合的扣状细胞。免疫组织化学染色显示肿瘤细胞 AE1/AE3、CK7、GCDFP-15、E-钙黏蛋白、雄激素受体染色和 GATA3 阳性。最终病理报告证实了原发性皮肤扣状细胞/组织细胞样癌的诊断。进一步的影像学检查未能发现远处原发性恶性肿瘤或转移性疾病。决定尝试手术切除肿瘤。在切除大部分明显的肿瘤后，送检了术中冰冻切片。对右侧眶周进行了浅层活检，结果显示病变延伸明显超过肉眼所见。此后，患者接受了广泛的眼眶内容物切除术，并使用临时的断层皮片进行重建。由于最终的永久切片有阳性边缘，患者进一步接受了广泛切除，并使用游离肌皮瓣重建，随后进行辅助放疗。
我们的病例代表了第 33 例 73 岁男性原发性皮肤扣状细胞/组织细胞样癌眼睑，这是第一例有 GATA3 阳性和第二例有雄激素受体染色阳性的病例。
