The diagnostic utility of next-generation sequencing on FNA biopsies of melanocytic uveal lesions.
The diagnostic utility of next-generation sequencing on FNA biopsies of melanocytic uveal lesions.
复制标题
新一代测序对黑素细胞葡萄膜病变 FNA 活检的诊断效用。
DOI：
10.1002/cncy.22264
复制
发表时间：
2020
影响因子：
3.4
通讯作者：
Calkins,SarahM
中科院分区：
文献类型：
--
作者：
Han,LucyM;Khanafshar,Elham;Afshar,ArminR;Calkins,SarahM
背景葡萄膜黑色素瘤是高度侵袭性的，总体预后取决于突变状态。细针穿刺活检（FNAB）在获得新鲜组织进行细胞学诊断和分子研究方面发挥着重要作用。有人认为，虽然FNAB通常提供高诊断准确性，但可能存在有限的细胞性，这可能会影响分子研究的诊断潜力。对葡萄膜黑色素细胞病变的FNAB进行了评价，以评估细胞学评价和下一代测序（NGS）的样本充足性。方法作者回顾性评价了2015年至2018年36例黑色素细胞葡萄膜病变。通过眼科医生进行的FNAB获得样本，并等分用于细胞学和NGS。进行了直接涂片、液基细胞学切片、细胞块和黑素细胞标志物免疫组织化学染色的各种组合。所有样本进行了测试，分子alterations使用杂交捕获为基础的NGS.ResultsThere有足够的材料细胞学诊断36例中的33例（92%），NGS检测36例中的30例（83%），细胞学诊断和NGS检测28例（78%）。在7例细胞学分类为不确定或诊断为“非典型”或“非诊断性”的病例中，NGS检测足以诊断5例黑色素瘤。病理诊断为黑色素瘤的病例中，20例（87%）有一致的NGS检测结果，2缺乏分子改变，1是不足以testing.ConclusionsFNA采样的黑色素细胞葡萄膜病变是足够的细胞学诊断和NGS检测。在病理结果不确定的一部分病例中，NGS检测结果有助于明确诊断。此外，发现的特定分子改变可以帮助评估预后并指导进一步的治疗。
BackgroundUveal melanoma is highly aggressive, and overall prognosis depends on mutation status. Fine‐needle aspiration biopsies (FNABs) play an important role in obtaining fresh tissue for cytologic diagnosis and molecular studies. It has been suggested that, although FNAB usually provides high diagnostic accuracy, there may be limited cellularity, which may compromise diagnostic potential for molecular studies. FNABs of uveal melanocytic lesions were evaluated to assess sample adequacy for both cytologic evaluation and next‐generation sequencing (NGS).MethodsThe authors retrospectively evaluated 36 cases of melanocytic uveal lesions from 2015 to 2018. Samples were obtained by ophthalmologist‐performed FNAB and aliquoted for cytology and NGS. Various combinations of direct smears, liquid‐based cytology slides, cell blocks, and immunohistochemical stains for melanocytic markers were performed. All samples were tested for molecular alterations using hybrid‐capture–based NGS.ResultsThere was sufficient material for cytologic diagnosis in 33 of 36 cases (92%), for NGS testing in 30 of 36 cases (83%), and for both cytologic diagnosis and NGS testing in 28 of 36 cases (78%). Of 7 cases that were cytologically categorized as indeterminate or diagnosed as “atypical” or “nondiagnostic,” NGS testing was sufficient and diagnostic for melanoma in 5 cases. Of the cases diagnosed as melanoma on pathology, 20 cases (87%) had concordant NGS testing results, 2 lacked molecular alterations, and 1 was insufficient for testing.ConclusionsFNA sampling of melanocytic uveal lesions is adequate for both cytologic diagnosis and NGS testing. In a subset of cases in which pathologic findings were indeterminate, NGS testing results were clarifying for diagnosis. In addition, specific molecular alterations identified can aid in evaluating prognosis and guide further management.