Fukui Tomoya, Tsuta Koji, Furuta Koh, Watanabe Shun-Ichi, Asamura Hisao, Ohe Yuichiro, Maeshima Akiko Miyagi, Shibata Tatsuhiro, Masuda Noriyuki, Matsuno Yoshihiro
Clinical Laboratory Division, National Cancer Center Hospital, 5-1-1 Tsukuji, Chuo-ku, Tokyo, Japan.
Cancer Sci. 2007 Nov;98(11):1714-9. doi: 10.1111/j.1349-7006.2007.00600.x. Epub 2007 Sep 2.
In lung cancer, somatic mutations of epidermal growth factor receptor (EGFR) are concentrated in exons 18-21, especially in adenocarcinoma (Ad), but these mutations have rarely been reported in small cell lung carcinoma (SCLC). Combined SCLC is rare, and the EGFR mutation status and its relationship to the clinicopathological features of this tumor type have not yet been elucidated. We retrospectively studied six patients with combined SCLC with Ad components among 64 consecutive patients who underwent resection of SCLC. The clinicopathological features of each patient were reviewed, especially for the distribution pattern of the Ad component and lymph node metastases. EGFR mutations were screened by high-resolution melting analysis in each case, and were confirmed by sequencing of each mutation in the microdissected SCLC or Ad components. Regarding EGFR, no specific mutation was detected in five of the six patients, whereas one female patient who had never smoked had a missense mutation. In this case, both the SCLC and Ad components shared the same mutation in exon 21 (L858R). We identified a patient with combined SCLC with Ad sharing an identical EGFR mutation in both the SCLC and Ad components. In addition to the clinicopathological characteristics of this rare histological type of lung cancer, these findings provide useful information for better understanding the biology, natural history and clinical management of SCLC.
在肺癌中,表皮生长因子受体(EGFR)的体细胞突变集中在外显子18 - 21,尤其是在腺癌(Ad)中,但这些突变在小细胞肺癌(SCLC)中鲜有报道。复合型SCLC较为罕见,其EGFR突变状态及其与该肿瘤类型临床病理特征的关系尚未阐明。我们回顾性研究了64例接受SCLC切除术的连续患者中的6例复合型SCLC伴Ad成分患者。对每位患者的临床病理特征进行了回顾,尤其关注Ad成分的分布模式和淋巴结转移情况。通过高分辨率熔解分析对每例病例进行EGFR突变筛查,并通过对显微切割的SCLC或Ad成分中的每个突变进行测序来确认。关于EGFR,6例患者中有5例未检测到特定突变,而1例从不吸烟的女性患者有一个错义突变。在该病例中,SCLC和Ad成分在外显子21(L858R)中共享相同的突变。我们鉴定出1例复合型SCLC伴Ad患者,其SCLC和Ad成分共享相同的EGFR突变。除了这种罕见组织学类型肺癌的临床病理特征外,这些发现为更好地理解SCLC的生物学特性、自然史和临床管理提供了有用信息。