MYD88 L265P MUTATION DETECTION IN THE AQUEOUS HUMOR OF PATIENTS WITH VITREORETINAL LYMPHOMA
MYD88 L265P MUTATION DETECTION IN THE AQUEOUS HUMOR OF PATIENTS WITH VITREORETINAL LYMPHOMA
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DOI：
10.1097/iae.0000000000002319
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发表时间：
2019-04-01
影响因子：
3.3
通讯作者：
Modorati, Giulio M.
中科院分区：
文献类型：
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作者：
Miserocchi, Elisabetta;Ferreri, Andres J. M.;Modorati, Giulio M.
目的：目的：检测经细胞学证实的玻璃体视网膜淋巴瘤（vitreoretinal lymphoma，VLT）患者房水中MYD 88 L265 P突变的存在情况。从穿刺后的房水样本和诊断性玻璃体切除术后的玻璃体液样本中提取基因组DNA。采用扩增-难治性突变系统聚合酶链反应和焦磷酸测序法检测所有患者的眼房水和6例患者的玻璃体中MYD 88密码子265的突变。对照组的8例年龄匹配的非感染性葡萄膜炎的确诊患者也进行了测试MYD 88 L265 P突变的存在下，在aqueum.Results：8例患者（3名男性，5名女性），平均年龄为69.5岁（范围50-85岁）被认为是。在玻璃体中检测MYD 88 L265 P的所有患者（6例）均为阳性，除1例外，该结果与所有样本的细胞学检查结果一致。6例（75%）患者的房水中发现MYD 88 L265 P突变，其中3例患者的双眼均存在突变。8只眼中有7只眼的房水和玻璃体样本中MYD 88 L265 P突变的结果与可用样本一致。非感染性葡萄膜炎对照组的房水中MYD 88 L265 P突变检测为阴性。结论：75%的细胞学证实的玻璃体视网膜淋巴瘤患者的房水中检测到MYD 88突变。这种技术可以被认为是一种额外的诊断工具，在疾病的检测。
Purpose: To detect the presence of MYD88 L265P mutation in the aqueous humor of patients with cytologically proven vitreoretinal lymphoma.Methods: Eight consecutive patients with bilateral vitreoretinal lymphoma (16 eyes) were prospectively evaluated. Genomic DNA was extracted from aqueous samples after paracentesis and vitreous humor samples after diagnostic vitrectomy. MYD88 codon 265 mutation was investigated by both amplification-refractory mutation system polymerase chain reaction approach and pyrosequencing assay in the aqueous humor of all patients and in the vitreous of 6 patients. A control group of 8 age-matched patients with established diagnosis of noninfectious uveitis was also tested for the presence of MYD88 L265P mutation in the aqueous humor.Results: Eight patients (three men, five women) with mean age of 69.5 years (range 50-85 years) were considered. All the patients tested for MYD88 L265P in the vitreous (six) were positive, and this result was consistent with cytological examination in all samples but one. The MYD88 L265P mutation was found in the aqueous of 6 patients (75%), and in 3 of them, the mutation was present in both eyes. Results of MYD88 L265P mutation in aqueous and vitreous sample were consistent in 7 of the 8 eyes with available samples. The aqueous humor of the noninfectious uveitis control group was negative for the detection of MYD88 L265P mutation.Conclusion: MYD88 mutation was detected in the aqueous humor of 75% of patients with cytologically proven vitreoretinal lymphoma. This technique may be considered as an additional diagnostic tool in the detection of the disease.