Subtyping of renal cortical neoplasms in fine needle aspiration biopsies using a decision tree based on genomic alterations detected by fluorescence in situ hybridization.
Subtyping of renal cortical neoplasms in fine needle aspiration biopsies using a decision tree based on genomic alterations detected by fluorescence in situ hybridization.
复制标题
使用基于荧光原位杂交检测到的基因组改变的决策树对细针抽吸活检中的肾皮质肿瘤进行亚型分型。
DOI：
10.1111/bju.12643
复制
发表时间：
2014
影响因子：
4.5
通讯作者：
Houldsworth,Jane
中科院分区：
文献类型：
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作者：
Gowrishankar,Banumathy;Cahill,Lynnette;Arndt,AlexandraE;Al-Ahmadie,Hikmat;Lin,Oscar;Chadalavada,Kalyani;Chaganti,Seeta;Nanjangud,GouriJ;Murty,VundavalliV;Chaganti,RajuSK;Reuter,VictorE;Houldsworth,Jane
目的应用荧光原位杂交技术（FISH）对肾占位性病变，尤其是小肾占位性病变进行诊断，提高诊断准确率。并根据FISH检测到的基因组改变建立肾皮质肿瘤分类决策树。10条染色体的获得或丢失以及11 q13位点的重排。使用标本（肾切除术）-组织学作为“金标准”，生成基于基因组畸变的决策树对标本进行分类。通过比较基于FISH的分类和活检组织学与标本histology.ResultsOf 114活检诊断的任一方法，一个较高的诊断率（92和96%）比单独的组织学（82和84%），分别在65活检SRM（<4 cm）和49从较大的肿块，实现了FISH（82和84%）的决策树的诊断潜力进行了评估。一个优化的决策树构建的基础上检测到的畸变在8条染色体，通过FISH实现的分类的最大一致性为79%，无论质量大小。在SRM中，与组织病理学相比，FISH诊断良性嗜酸细胞瘤的总体灵敏度较高，与嫌色性肾细胞癌亚型相似，而透明细胞和乳头状亚型较低。针吸活检标本分类的诊断准确性（来自SRMs）从仅通过组织学获得的80%增加到94%，当结合组织学和FISH.ConclusionThe本研究表明，我们开发的新型FISH测定在帮助针吸活检中肾皮质肿瘤的诊断的产量和准确性中发挥作用，并可帮助指导组织学诊断为非诊断性SRM患者的临床管理。
ObjectivesTo improve the overall accuracy of diagnosis in needle biopsies of renal masses, especially small renal masses (SRMs), using fluorescencein situhybridization (FISH), and to develop a renal cortical neoplasm classification decision tree based on genomic alterations detected by FISH.Patients and MethodsEx vivofine needle aspiration biopsies of 122 resected renal cortical neoplasms were subjected to FISH using a series of seven‐probe sets to assess gain or loss of 10 chromosomes and rearrangement of the 11q13 locus. Using specimen (nephrectomy)‐histology as the ‘gold standard’, a genomic aberration‐based decision tree was generated to classify specimens. The diagnostic potential of the decision tree was assessed by comparing the FISH‐based classification and biopsy histology with specimen histology.ResultsOf the 114 biopsies diagnostic by either method, a higher diagnostic yield was achieved by FISH (92 and 96%) than histology alone (82 and 84%) in the 65 biopsies from SRMs (<4 cm) and 49 from larger masses, respectively. An optimized decision tree was constructed based on aberrations detected in eight chromosomes, by which the maximum concordance of classification achieved by FISH was 79%, irrespective of mass size. In SRMs, the overall sensitivity of diagnosis by FISH compared with histopathology was higher for benign oncocytoma, was similar for the chromophobe renal cell carcinoma subtype, and was lower for clear‐cell and papillary subtypes. The diagnostic accuracy of classification of needle biopsy specimens (from SRMs) increased from 80% obtained by histology alone to 94% when combining histology and FISH.ConclusionThe present study suggests that a novel FISH assay developed by us has a role to play in assisting in the yield and accuracy of diagnosis of renal cortical neoplasms in needle biopsies in particular, and can help guide the clinical management of patients with SRMs that were non‐diagnostic by histology.