Syahruddin Elisna, Wulandari Laksmi, Sri Muktiati Nunuk, Rima Ana, Soeroso Noni, Ermayanti Sabrina, Levi Michael, Hidajat Heriawaty, Widjajahakim Grace, Utomo Ahmad Rusdan Handoyo
Department of Pulmonology and Respiratory Medicine, Faculty of Medicine, Universitas Indonesia.
Department of Pulmonology, Persahabatan Hospital, Jakarta, Indonesia.
Lung Cancer (Auckl). 2018 Mar 23;9:25-34. doi: 10.2147/LCTT.S154116. eCollection 2018.
We aimed to evaluate the distribution of individual epidermal growth factor receptor () mutation subtypes found in routine cytological specimens.
A retrospective audit was performed on testing results of 1,874 consecutive cytological samples of newly diagnosed or treatment-naïve Indonesian lung cancer patients (years 2015-2016). Testing was performed by ISO15189 accredited central laboratory.
Overall test failure rate was 5.1%, with the highest failure (7.1%) observed in pleural effusion and lowest (1.6%) in needle aspiration samples. mutation frequency was 44.4%. Tyrosine kinase inhibitor (TKI)-sensitive common mutations (ins/dels exon 19, L858R) and uncommon mutations (G719X, T790M, L861Q) contributed 57.1% and 29%, respectively. Approximately 13.9% of mutation-positive patients carried a mixture of common and uncommon mutations. Women had higher mutation rate (52.9%) vs men (39.1%; <0.05). In contrast, uncommon mutations conferring either TKI responsive (G719X, L861Q) or TKI resistance (T790M, exon 20 insertions) were consistently more frequent in men than in women (67.3% vs 32.7% or 69.4% vs 30.6%; <0.05). Up to 10% mutation-positive patients had baseline single mutation T790M, exon 20 insertion, or in coexistence with TKI-sensitive mutations. Up to 9% patients had complex or multiple mutations, whereby 48.7% patients harbored TKI-resistant mutations. One patient presented third-generation TKI-resistant mutation L792F simultaneously with T790M.
Routine diagnostic cytological techniques yielded similar success rate to detect mutations. Uncommon mutations were frequent events in Indonesian lung cancer patients.
我们旨在评估在常规细胞学标本中发现的个体表皮生长因子受体（EGFR）突变亚型的分布情况。
对1874例新诊断或未经治疗的印度尼西亚肺癌患者（2015 - 2016年）连续的细胞学样本检测结果进行回顾性分析。检测由经ISO15189认可的中心实验室进行。
总体检测失败率为5.1%，其中胸腔积液样本的失败率最高（7.1%），针吸样本的失败率最低（1.6%）。EGFR突变频率为44.4%。酪氨酸激酶抑制剂（TKI）敏感的常见EGFR突变（外显子19插入/缺失、L858R）和不常见突变（G719X、T790M、L861Q）分别占57.1%和29%。约13.9%的EGFR突变阳性患者同时携带常见和不常见突变。女性的EGFR突变率（52.9%）高于男性（39.1%；P<0.05）。相比之下，赋予TKI敏感性（G719X、L861Q）或TKI抗性（T790M、外显子20插入）的不常见突变在男性中始终比女性更常见（67.3%对32.7%或69.4%对30.6%；P<0.05）。高达10%的EGFR突变阳性患者具有基线单突变T790M、外显子20插入，或与TKI敏感突变共存。高达9%的患者具有复杂或多个EGFR突变，其中48.7%的患者携带TKI抗性突变。1例患者同时出现第三代TKI抗性突变L792F和T790M。
常规诊断细胞学技术检测EGFR突变的成功率相似。不常见的EGFR突变在印度尼西亚肺癌患者中很常见。
