Department of Molecular Genetics, Aravind Medical Research Foundation, 1, Anna Nagar, Madurai, Tamil Nadu, India.
Department of Molecular Biology, Aravind Medical Research Foundation - Affiliated to Alagappa University, Karaikudi, Tamil Nadu, India.
Mol Biol Rep. 2024 Sep 9;51(1):973. doi: 10.1007/s11033-024-09903-w.
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.
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.
The present study indicates that the MYD88 L265P mutation is relatively infrequent in our cohort, underscoring the need for further validation in additional cohorts.
眼附属器 B 细胞淋巴瘤是成人最常见的眼眶恶性肿瘤。在淋巴瘤中经常报道大的染色体易位和细胞信号通路的改变。在改变的通路中，NFκB 信号的扰动在淋巴瘤发生中起着重要作用。具体来说，MYD88 L265P 突变，NFκB 信号的激活剂，在眼内淋巴瘤中广泛研究，但在其他部位没有研究。因此，本研究旨在筛选眼附属器 B 细胞淋巴瘤肿瘤中的 MYD88 L265P 突变，并评估其临床意义。
我们通过等位基因特异性聚合酶链反应对二十例眼附属器 B 细胞淋巴瘤肿瘤样本进行研究，发现有两个样本存在 MYD88 L265P 突变。随后的 Sanger 测序证实了在等位基因特异性聚合酶链反应检测为阳性的两个样本中存在杂合突变。对眼附属器 B 细胞淋巴瘤中 MYD88 L265P 突变的全面回顾显示，其频率从 0 到 36%不等。具有和不具有 MYD88 L265P 突变的患者在临床、病理和预后特征方面没有差异。
本研究表明，在我们的队列中，MYD88 L265P 突变相对较少，这强调了在其他队列中进一步验证的必要性。
