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MYD88 L265P mutation in intraocular lymphoma: A potential diagnostic marker

1 Sankara Nethralaya Referral Laboratory, Chennai, Tamil Nadu, India
2 Larsen and Toubro Department of Ocular Pathology, Sankara Nethralaya, Chennai, Tamil Nadu, India
3 Radheshyam Kanoi Stem Cell Laboratory, Kamalnayan Bajaj Institute for Research in Vision and Ophthalmology, Chennai, Tamil Nadu, India
4 Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India
5 Aditya Jyot Eye Hospital Pvt Ltd, Mumbai, Maharashtra, India
6 Larsen and Toubro, Department of Ocular Pathology; Shri Bhagwan Mahavir Vitreoretinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, Tamil Nadu, India

Correspondence Address:
Krishnakumar Subramanian,
Pathologist and Head of L and T Ophthalmic Pathology Department, Deputy Director-Research - Vision Research Foundation, Old No 18, New No 41, College Road, Nungambakkam, Chennai - 600 006, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1712_19

Purpose: Vitreoretinal lymphoma (VRL) is the most common intraocular lymphoma (IOL). This can be either primary or secondary to the central nervous system lymphoma. The diagnosis of primary intraocular lymphoma (PIOL) currently relies on clinical diagnosis and cytological analysis of the vitreous or subretinal biopsy. Although most cases are diagnosed without much issue, the limited amount of vitreous fluid, subjectivity in cytological reporting, and special expertise in ocular pathology make the diagnosis challenging. MYD88 L265P mutation has been implicated to have diagnostic utility in PIOL. In this study, we screened consecutive vitreous biopsies for the presence of MYD88 L265P mutation to understand its diagnostic utility compared to conventional cytological analysis. Methods: Cytological analysis and MYD88 L265P mutation by PCR-based sequencing and restriction fragment length polymorphism (RFLP) were carried out on consecutive vitreous and subretinal biopsies collected from 21 patients. The diagnostic utility of the cytology and MYD88 L265P mutation analysis were compared. Results: Out of the 21 patients, 15 had clinical suspicion of having PIOL. Out of these suspected cases of PIOL, nine were confirmed on follow-up, while six were diagnosed as other intraocular pathologies. Diagnostic utility of MYD88 L265P mutation analysis revealed a sensitivity of 88.9%, specificity of 91.6%, positive and negative predictive value of 88.9% and 91.7%, respectively. Diagnostic accuracy of 90.5% was achieved with the mutation analysis that shows the superiority of MYD88 in both ruling in and ruling out PIOL. The diagnostic utility of MYD88 L265P mutation was superior to conventional cytological analysis. Conclusion: The analysis of MYD88 L265P mutation is reliable and efficient in the diagnosis of PIOL.

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