Triple-hit diffuse large B-cell lymphoma with choroidal and cavernous sinus involvement mimicking inflammatory and neuro-ophthalmic disease: case report.

[BACKGROUND] To describe our findings in a rare case of secondary triple-hit diffuse large B-cell lymphoma (DLBCL) with choroidal and central nervous system (CNS) involvement, presenting with bilateral serous retinal detachments (SRD) and ophthalmoplegia.

[CASE PRESENTATION] A 44-year-old male presented with a 4-month history of bilateral vision loss, right-sided headaches radiating to the periorbital area, and oral numbness within the mental nerve distribution. Review of systems was notable for unintentional 25-pound weight loss and chronic back pain. Corrected visual acuities were 20/150 in the right eye and 20/50 in the left. External exam showed remarkable results for right-sided ptosis, diminished pupillary light response without afferent pupillary defect, and limitation of extraocular movements in all gazes. Fundus examination showed bilateral, multifocal SRD with associated increased choroidal thickness. Systemic workup showed right-sided prominence of the cavernous sinus, heterogeneous bone marrow signal throughout the spine, splenomegaly, retroperitoneal lymphadenopathy, and a hypodense hepatic lesion. Cerebrospinal fluid analysis revealed elevated white blood cell count and protein concentration. A lymph node biopsy revealed DLBCL with Bcl6, Bcl2, and c-Myc rearrangements. Treatment with combined intrathecal and systemic chemotherapy resulted in significant improvement in both systemic and ocular symptoms.

[CONCLUSION] This case underscores the importance of considering secondary lymphoma in patients presenting with bilateral SRD and neuro-ophthalmic deficits, even in the absence of known systemic malignancy. The combination of cavernous sinus syndrome with concomitant mandibular nerve involvement should prompt CNS and systemic evaluation for hematologic malignancy. Patients with triple-hit DLBCL phenotype may achieve dramatic visual recovery following modern targeted chemoimmunotherapy.