Swati Ismatun, Zhang Shengle, Tull Jamie, Khurana Kamal K
Department of Pathology, State University of New York Syracuse, New York, 13210 USA.
World J Oncol. 2011 Dec;2(6):275-280. doi: 10.4021/wjon416w. Epub 2011 Dec 19.
Recent studies have shown that mutations are negative predictors of benefit from both adjuvant chemotherapy and anti-EGFR directed therapies for non-small cell lung carcinoma (NSCLC). Needle core biopsy, cytology specimen and resected tissue have all been used for mutational analysis of malignant lung tumors. However, studies validating the correlation between needle core biopsy/cytology specimen and resected tissue, histologic reference standard for KRAS mutational analysis are lacking. We retrospectively compared the mutation detection on cytology specimen or needle core biopsy with corresponding resected malignant neoplasm of lung, the histologic reference standard for mutational analysis.
Twenty-seven samples including 8 cell blocks, 9 cytology smears and 10 needle core biopsies, and corresponding 22 resected malignant tumor of lung were correlated for mutational analysis. In cases where cell block material did not correspond with results on resected specimen, cytology smears of corresponding cases were microdissected for isolation of DNA.
The needle core biopsy specimens and the corresponding surgical resections showed 100% concordant results for mutational analysis. mutation was detected in 4 out of 8 cell blocks, compared to 7 out of 8 corresponding surgical resections. Low cellularity (2 cases) and failure to retrieve DNA (1case) resulted in lack of correlation in 3 cases with cell blocks. However, cytology smears in these 3 cases confirmed the mutation noted in corresponding surgical resections. Overall concordance between cytology smears and corresponding surgical resections was 89% (8 of 9 cases). mutation was detected in 1 of the 9 cytology smears and was lacking in corresponding surgically resection.
Cytology specimen and needle core biopsies provide adequate material for mutational analysis. Excellent mutational analysis concordance between cytology specimen/needle core biopsies and resected tumor suggests that predictive marker based therapeutic decision need not shift to more invasive surgical procedures.
近期研究表明，对于非小细胞肺癌（NSCLC），这些突变是辅助化疗和抗表皮生长因子受体（EGFR）靶向治疗获益的阴性预测指标。针芯活检、细胞学标本和切除组织均已用于恶性肺肿瘤的突变分析。然而，缺乏验证针芯活检/细胞学标本与切除组织之间相关性的研究，而切除组织是KRAS突变分析的组织学参考标准。我们回顾性比较了细胞学标本或针芯活检与相应的肺切除恶性肿瘤（突变分析的组织学参考标准）上的这些突变检测情况。
27份样本包括8个细胞块、9份细胞学涂片和10份针芯活检标本，以及相应的22例肺切除恶性肿瘤用于相关性突变分析。在细胞块材料与切除标本结果不一致的病例中，对相应病例的细胞学涂片进行显微切割以分离DNA。
针芯活检标本与相应手术切除标本在这些突变分析上显示出100%的一致性结果。8个细胞块中有4个检测到这些突变，而相应的8例手术切除标本中有7个检测到。细胞量少（2例）和未能提取到DNA（1例）导致3例细胞块缺乏相关性。然而，这3例中的细胞学涂片证实了相应手术切除标本中检测到的这些突变。细胞学涂片与相应手术切除标本之间的总体一致性为89%（9例中的8例）。9份细胞学涂片中1份检测到这些突变，而相应手术切除标本中未检测到。
细胞学标本和针芯活检为这些突变分析提供了足够的材料。细胞学标本/针芯活检与切除肿瘤之间出色的突变分析一致性表明，基于预测标志物的治疗决策无需转向更具侵入性的手术操作。
