Multiple Myeloma Recurrence with Optic Nerve Infiltration Diagnosed by Vitrectomy, Immunohistochemistry, and in Situ Hybridization

Abstract

We present a case of multiple myeloma recurrence diagnosed by optic nerve infiltration. Interventional case report with clinical, surgical, immunohistochemical, and fluorescence in situ hybridization correlation. A 51-year-old woman with a history of bilateral invasive ductal breast carcinoma and multiple myeloma, both in remission on maintenance bortezomib, was referred for sudden, painless loss of vision OS. Examination demonstrated anterior vitritis with severe optic disc elevation, with yellow-white thickening, peripapillary hemorrhages, and a retinal detachment inferiorly. Diagnostic vitrectomy showed CD138-positive and BRST2-negative cells. Fluorescence in situ hybridization was positive for del(13q) and p53 deletion and negative for CCND1/IGH. This is the first report of optic nerve infiltration of multiple myeloma as evidence of recurrence while on maintenance chemotherapy. We demonstrate that diagnostic vitrectomy and immunohistochemistry of vitreous fluid is feasible for the diagnosis of recurrent multiple myeloma.