Challenges in the diagnosis and management of vitreoretinal lymphoma – Clinical and basic approaches

Takase, Hiroshi; Arai, Ayako; Iwasaki, Yuko; Imai, Ayano; Nagao, Takaaki; Kawagishi, Masahiko; Ishida, Tomoka; Mochizuki, Manabu

doi:10.1016/j.preteyeres.2022.101053

Cited by 30 publications

(25 citation statements)

References 141 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…e rate of misdiagnosis and failure to diagnose was 100% with an average delay in the final diagnosis of 5 months. Given the nonspecific symptoms and clinical signs that mimic ocular inflammatory conditions, most of the cases were misdiagnosed as uveitis (6/20 eyes, 30%), which is similar to previous studies [10,18,19]. As PVRL is the most common type of masquerade syndrome, it is challenging and vital to establish a correct diagnosis.…”

Section: Discussionsupporting

confidence: 81%

“…PVRL, a subset of primary central nervous system lymphoma (PCNSL), [9] is a rare intraocular lymphoid malignancy, and its atypical clinical features make early diagnosis difficult [17]. As the symptoms of PVRL vary from decreased vision to binocular diplopia and ocular lesions involving both the anterior and posterior segments, the rate of misdiagnosis and failure to diagnose is high [12,18,19]. Mortality is up to 81% in PVRL patients with CNS involvement [20,21].…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Primary Vitreoretinal Lymphoma: A Retrospective Study of 20 Eyes

Luo

et al. 2022

Journal of Ophthalmology

View full text Add to dashboard Cite

Purpose. This study aimed to describe and analyze the clinical features of 20 eyes of 15 primary vitreoretinal lymphoma (PVRL) patients. Methods. This was a retrospective case series and a review of the literature. Fifteen PVRL patients (20 affected eyes) referred between February 2011 and December 2019 were recruited, and their medical records were retrospectively reviewed. Results. Among these 15 PVRL patients, seven were men (46.67%), and five had bilateral PVRL (33.33%). The median onset age was 66 ± 9.26 years and six (40%) patients had central nervous system (CNS) involvement, and two of them died of CNS-related complications. The ocular symptoms varied from decreased vision to binocular diplopia. The ocular manifestations were diverse and involved both the anterior and posterior segments, including the vitreous cells, subretinal white-yellow lesions, cotton-wool spots, and ophthalmoplegia. The rate of misdiagnosis and failure to diagnose was 100%, and 30% of them were misdiagnosed as uveitis. We found five cases revealing rare characteristics of this malignancy. Among them, there were two cases with mild hypertensive retinopathy exhibiting cotton-wool spots, one case mimicking age-related macular degeneration (AMD), one case with systemic lupus erythematosus (SLE), and one patient had extraocular muscle involvement. To the best of our knowledge, we reported PVRL exhibiting cotton-wool spots as the main manifestation and coexisting with extraocular myopathy for the first time. Conclusions. PVRL is a rare intraocular malignancy that commonly masquerades as uveitis. As the clinical signs and symptoms are atypical, ophthalmologists must carefully examine patients to avoid misdiagnosis or a failure to diagnose. Cotton-wool spots and extraocular myopathy might be the dominant initial symptoms in PVRL patients, and AMD should be considered a differential diagnosis of PVRL. SLE patients under immunosuppressive treatment could have spontaneous PVRL.

show abstract

Section: Discussionsupporting

confidence: 81%

Section: Discussionmentioning

confidence: 99%

Primary Vitreoretinal Lymphoma: A Retrospective Study of 20 Eyes

Luo

et al. 2022

Journal of Ophthalmology

View full text Add to dashboard Cite

show abstract

“…Several studies report that the PCR-based IgH rearrangement assay has some limitations, requiring a larger quantity of cells and having a higher limit of detection (10–20% of clonal B cell population) compared to MYD88 mutation analysis, which may detect 5% or less of mutant cells [ 32 , 33 , 37 , 38 , 39 ].…”

Section: Current Laboratory Techniques Used In Pvrl Diagnosis and The...mentioning

confidence: 99%

Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools

et al. 2022

View full text Add to dashboard Cite

Primary vitreoretinal lymphoma (PVRL), a rare aggressive malignancy primarily involving the retina and/or the vitreous, is a major diagnostic challenge for clinicians (who commonly misdiagnose it as chronic uveitis) as well as for pathologists (for biological and technical reasons). Delays in diagnosis and treatment are responsible for visual impairments and life-threatening consequences, usually related to central nervous system involvement. The identification of lymphoma cells in vitreous fluid, obtained by vitrectomy, is required for diagnosis. Of note, the scarcity of neoplastic cells in small volumes of vitreous sample, and the fragility of lymphoma cells with degenerative changes caused by previous steroid use for presumed uveitis makes diagnosis based on cytology plus immunophenotyping difficult. Interleukin levels, immunoglobulin heavy chain or T-cell receptor gene rearrangements, and MYD88 mutation are applied in combination with cytology to support diagnosis. We aim to describe the current laboratory technologies for PVRL diagnosis, focusing on the main issues that these methods have. In addition, new emerging diagnostic strategies, such as next-generation sequencing analysis, are discussed. The genetic profile of PVRL remains largely unexplored. Better knowledge of genetic alterations is critical for precision medicine interventions with target-based treatments of this lymphoma for which no standardised treatment protocol currently exists.

show abstract

“…Furthermore, the use of steroids makes the diagnosis of VRL more difficult, with an average time to initial diagnosis of up to 40 months (range: 1-144 months). 6,8 In recent years, ophthalmic imaging techniques, such as optical coherence tomography (OCT) 9 and intraocular fluid-based complementary diagnostic techniques, such as polymerase chain reaction (PCR) for the detection of immunoglobulin heavy chain (IGH) and immunoglobulin light chain (IGL) clonal rearrangements (IgH-PCR and IgL-PCR, respectively), 10 myeloid differentiation factor 88 (MYD88)-L265P mutation, 11 and PCNSL-based next-generation sequencing 12 and cytokine analysis have improved the early diagnosis of VRL. Of these, cytokines have been studied most extensively.…”

Section: Introductionmentioning

confidence: 99%

Logistic regression models of cytokines in differentiating vitreoretinal lymphoma from uveitis

Tian

Chen

Xiao

et al. 2022

Clinical Laboratory Analysis

View full text Add to dashboard Cite

Background Vitreoretinal lymphoma (VRL) can commonly masquerade as chronic idiopathic uveitis due to its nonspecific clinical presentation. Thus, its early diagnosis is difficult. In this study, new logistic regression models were used to classify VRL and uveitis. Additionally, the diagnostic performance of interleukin (IL)‐10, the IL‐10/IL‐6, and the Interleukin Score for IntraOcular Lymphoma Diagnosis (ISOLD) are evaluated. Methods Sixty‐nine aqueous humors (AH) (46 VRL, 23 uveitis) and 65 vitreous humors (VH) (49 VRL, 16 uveitis) were collected from a single‐center retrospective cohort. Logistic regression models were conducted based on IL‐6 and IL‐10. The cut‐off values, area under the receiver operating characteristic curve (ROC) curve (AUC), sensitivity and specificity of IL‐10, the IL‐10/IL‐6, the ISOLD, and the models were calculated from the ROC. Furthermore, Spearman's rank correlation analysis was performed to determine cytokine levels in VH and AH. Results We redefined the cut‐off values of IL‐10, the IL‐10/IL‐6, the ISOLD, and the logistic regression models. In AH, the AUC values of IL‐10, ISOLD, IL10/IL6, and the model were 0.91, 0.953, 0.952, and 0.967. In VH, they were 0.93, 0.95, 0.954, and 0.954, respectively. IL‐6 (r = 0.7844) and IL‐10 (r = 0.8506) in AH and VH showed a strong correlation. Conclusions IL‐6 and IL‐10 levels were introduced into new logistic regression models. The diagnostic efficacy of the models improved compared to the indicators mentioned above among Chinese patients. Additionally, the models could predict the probability of VRL more accurately. A strong correlation of cytokine levels showed the great potential of AH as prioritized auxiliary diagnostic for VRL.

show abstract

Challenges in the diagnosis and management of vitreoretinal lymphoma – Clinical and basic approaches

Cited by 30 publications

References 141 publications

Primary Vitreoretinal Lymphoma: A Retrospective Study of 20 Eyes

Primary Vitreoretinal Lymphoma: A Retrospective Study of 20 Eyes

Primary Vitreoretinal Lymphoma: Current Diagnostic Laboratory Tests and New Emerging Molecular Tools

Logistic regression models of cytokines in differentiating vitreoretinal lymphoma from uveitis

Contact Info

Product

Resources

About