孤立性泪囊外髓浆细胞瘤伴相关晶体贮积性组织细胞增生症。

Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California.

Georgetown University School of Medicine, Washington, District of Columbia.

Ophthalmic Plast Reconstr Surg. 2022;38(2):102-107. doi: 10.1097/IOP.0000000000002028.

PURPOSE

To report a rare case of crystal-storing histiocytosis associated with solitary extramedullary plasmacytoma of the lacrimal sac and to review literature on the 2 entities to summarize important diagnostic, management, and prognostic considerations.

METHODS

A case report of the ophthalmologic presentation, pathology workup, and oncologic management is presented. Literature search with focus on lesions occurring in ophthalmic sites and management guidelines from expert panels and working groups.

RESULTS

Crystal-storing histiocytosis associated with solitary extramedullary plasmacytoma arose within the lacrimal sac of a previously healthy middle-aged woman and presented as a painless nodule with epiphora. The biopsy tissue showed sheets of crystal-filled histiocytes, interspersed with monoclonal plasma cells and rarely demonstrated plasma cell phagocytosis. Imaging and laboratory studies confirmed the localized nature.

CONCLUSIONS

Crystal-storing histiocytosis is an uncommon entity in which crystals, most commonly arising from altered immunoglobulins, aggregate within histiocytes and form symptomatic mass lesions. It has been reported in ophthalmic regions in patients with a concurrent lymphoproliferative or plasma cell disorder and can rarely predate a malignancy. The current case is notable because crystal-storing histiocytosis occurs with a localized process, solitary extramedullary plasmacytoma, and presents in an unusual site, the lacrimal sac. Tissue biopsy with multimodal pathological evaluation is necessary to make the diagnosis. Ophthalmologists should recognize that crystal-storing histiocytosis is commonly associated with a hematologic malignancy and, when appropriate, refer the patient for oncologic management. Surveillance may be indicated in cases with no established etiology. Solitary extramedullary plasmacytoma should also be monitored, as a proportion of cases progress to multiple myeloma.

目的

报告一例罕见的晶体贮积性组织细胞增生症，其与孤立性泪囊外髓外浆细胞瘤相关，并回顾这两种疾病的文献，总结重要的诊断、治疗和预后注意事项。

方法

报道了一例眼科表现、病理检查和肿瘤治疗的病例。进行了文献检索，重点关注发生在眼部的病变，并结合专家小组和工作组的管理指南。

结果

晶体贮积性组织细胞增生症与孤立性泪囊外髓外浆细胞瘤发生于一位既往健康的中年女性的泪囊中，表现为无痛性结节伴溢泪。活检组织显示充满晶体的组织细胞片，其间散布有单克隆浆细胞，很少有浆细胞吞噬现象。影像学和实验室研究证实为局限性病变。

结论

晶体贮积性组织细胞增生症是一种罕见疾病，晶体通常由异常免疫球蛋白聚集在组织细胞中形成，并形成有症状的肿块病变。它已在患有同时性淋巴增生性或浆细胞疾病的患者的眼部区域中被报道，并且很少在恶性肿瘤之前发生。本病例值得注意的是，晶体贮积性组织细胞增生症发生在局部病变、孤立性泪囊外髓外浆细胞瘤中，且发生在不常见的部位——泪囊。需要进行多模态病理评估的组织活检以做出诊断。眼科医生应认识到晶体贮积性组织细胞增生症通常与血液恶性肿瘤相关，在适当情况下应将患者转介至肿瘤科进行治疗。对于无明确病因的病例，可能需要进行监测。孤立性泪囊外髓外浆细胞瘤也应进行监测，因为一部分病例会进展为多发性骨髓瘤。