Rapidly Progressive, Isolated Subretinal Leukemic Relapse: A Case Report

Abstract

Purpose: The aim of this paper is to describe a case of relapsed pediatric acute lymphoblastic leukemia (ALL) presenting as a rapidly progressive subretinal infiltrate, as diagnosed by ultrasound-guided fine needle aspiration (FNA). Methods: We conducted a clinical pathological retrospective chart review. Results: Eleven months after documented remission of T-cell ALL while on maintenance therapy, this 17-year-old patient presented with acute open angle glaucoma in the right eye. B-scan ultrasonography suggested total retinal detachment. Eight weeks later, based on routine cerebrospinal fluid analysis, the patient was diagnosed with central nervous system relapse of T-cell ALL. Repeat B-scan 1 week later showed a new hyperechoic subretinal mass. FNA of the mass confirmed leukemic infiltrate. The involved eye was enucleated, demonstrating leukemic cells throughout the subretinal space, choroid, and the optic nerve. Following hematopoietic stem cell transplant, the patient continues to maintain bone marrow remission 5 months after enucleation without involvement in the opposite eye. Conclusion: Retinal detachment in any patient with a history of leukemia should raise the possibility of relapse and may warrant aspiration/biopsy if other means of diagnosing relapse are inconclusive. Subretinal infiltrate may progress rapidly and prompt diagnosis is paramount to tailoring therapy and preserving vision.

Isolated Optic Nerve Relapse in a Pediatric Patient With T-Cell Lymphoblastic Leukemia: A Brief Report

“…10 ON relapse is partially explained by the ON's role as a "pharmacologic sanctuary," which is not effectively penetrated by systemic and IT chemotherapy. [3][4][5][6][7][8] Proposed explanations for this include impaired CSF flow caused by a barrier between leukemic ON lesions and the remainder of the CNS. 11 Others suggest that ocular leukemic relapses may be early manifestations of impending extensive disease and that the timing of recurrence and history of previous hematologic relapse are more important than the site of extramedullary relapse.…”

“…4 Few cases of isolated leukemic ON relapse have been reported in literature and even fewer without CSF disease at relapse presentation (Table 1). Amer and Gillete et al 6,9 describe cases involving intraocular relapse that later progress to involve the CNS. These authors stress the importance of recognizing leukemic infiltration in any patient presenting with vision or other ocular changes.…”

“…Isolated leukemic relapse of the ON occurs in <2.2% of LBL relapse cases and is usually a harbinger of future CNS progression 10 . ON relapse is partially explained by the ON’s role as a “pharmacologic sanctuary,” which is not effectively penetrated by systemic and IT chemotherapy 3–8 . Proposed explanations for this include impaired CSF flow caused by a barrier between leukemic ON lesions and the remainder of the CNS 11 .…”

“…3 The ON is described as a pharmacologic sanctuary site, impenetrable by systemic chemotherapeutic regimens. [3][4][5][6][7][8] Relapse in the ON often portends impending medullary relapse, warranting timely treatment to halt disease progression and preserve vision. 9 Here, we describe a child who developed an early isolated relapse of the ON with no evidence of medullary or cerebrospinal fluid (CSF) disease and remains in remission 2 years following myeloablative matched sibling donor (MSD) hematopoietic stem cell transplant (HCT).…”

“…Ocular involvement of T-LBL may manifest as retinal hemorrhages, capillary wall infiltration, nerve palsies, and papilledema; however, isolated optic nerve (ON) relapse is rare 3 . The ON is described as a pharmacologic sanctuary site, impenetrable by systemic chemotherapeutic regimens 3–8 . Relapse in the ON often portends impending medullary relapse, warranting timely treatment to halt disease progression and preserve vision 9 .…”