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. 2024 Sep 9;51(1):973.
doi: 10.1007/s11033-024-09903-w.

Investigating the frequency of somatic MYD88 L265P mutation in primary ocular adnexal B cell lymphoma

Karuvel Kannan Saraswathi  1   2 , Radhakrishnan Santhi  3 , Usha Kim  4 , Ayyasamy Vanniarajan  5   6
Affiliations

Investigating the frequency of somatic MYD88 L265P mutation in primary ocular adnexal B cell lymphoma

Karuvel Kannan Saraswathi et al. Mol Biol Rep. .

Abstract

Background: Ocular adnexal B cell lymphoma is the most common orbital malignancy in adults. Large chromosomal translocations and alterations in cell-signaling pathways were frequently reported in lymphomas. Among the altered pathways, perturbations of NFκB signaling play a significant role in lymphomagenesis. Specifically, the MYD88 L265P mutation, an activator of NFκB signaling, is extensively studied in intraocular lymphoma but not at other sites. Therefore, this study aims to screen the MYD88 L265P mutation in Ocular adnexal B cell lymphoma tumors and assess its clinical significance.

Methods and results: Our study of twenty Ocular adnexal B cell lymphoma tumor samples by Allele-Specific Polymerase Chain Reaction identified two samples positive for the MYD88 L265P mutation. Subsequent Sanger sequencing confirmed the presence of the heterozygous mutation in those two samples tested positive in Allele-Specific Polymerase Chain Reaction. A comprehensive review of MYD88 L265P mutation in Ocular adnexal B cell lymphoma revealed variable frequencies, ranging from 0 to 36%. The clinical, pathological, and prognostic features showed no differences between patients with and without the MYD88 L265P mutation.

Conclusion: The present study indicates that the MYD88 L265P mutation is relatively infrequent in our cohort, underscoring the need for further validation in additional cohorts.

Keywords: MYD88 L265P; Allele Specific PCR; B cell Lymphoma; Ocular adnexal lymphoma; Orbital Malignancy; Sanger sequencing.

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