Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, South Carolina.
J Am Soc Cytopathol. 2020 Jul-Aug;9(4):254-257. doi: 10.1016/j.jasc.2020.03.005. Epub 2020 Apr 13.
In cases of suspected intraocular malignancy, vitreous may be the preferred pathologic sample; however, cellularity may be insufficient for definitive cytopathological diagnosis. Ancillary methodology to study vitreous fluid aspiration for mutational analysis may assist in treatment decisions.
Three individual patient vitreous humor samples were received in the laboratory for mutation testing. The samples were collected during standard of care and analyzed for routine cytopathology. In each case, cytopathology was inconclusive and mutational analyses to support diagnostic suspicions were clinically requested. Based on the clinically and pathologically suspected diagnoses, an appropriate massively parallel sequencing assay previously validated for clinical use was performed using DNA extracted from vitreous samples that had previously undergone various processing. Nucleic acid yield was assessed by fluorometric or spectrophotometric methods, with yield ranging from 2.7 to 86.5 ng. Library preparations were performed using standard laboratory protocols.
Two of the cases were suspicious for melanoma and a 50-gene solid tumor panel was performed. The third case was worrisome for vitreoretinal lymphoma and a 49-gene myeloid panel was performed.
In all cases, the molecular profiling assisted with the clinical assessment and/or management of each patient.
在疑似眼内恶性肿瘤的情况下，玻璃体可能是首选的病理样本；然而，细胞数量可能不足以进行明确的细胞病理学诊断。辅助研究玻璃体抽吸液进行突变分析的方法可能有助于治疗决策。
实验室收到了三个单独的玻璃体样本进行突变测试。这些样本是在标准护理过程中收集的，并进行了常规细胞学分析。在每种情况下，细胞学分析都不明确，并且为了支持诊断怀疑，临床要求进行突变分析。基于临床和病理上的可疑诊断，对先前经过各种处理的玻璃体样本进行了先前经过验证可用于临床的适当的大规模平行测序检测。通过荧光计或分光光度法评估核酸产量，产量范围为 2.7 至 86.5ng。使用标准实验室方案进行文库制备。
其中两个病例怀疑为黑色素瘤，进行了 50 个基因固体肿瘤面板检测。第三个病例怀疑为玻璃体视网膜淋巴瘤，进行了 49 个基因髓系面板检测。
在所有情况下，分子分析都有助于对每个患者的临床评估和/或管理。
