Jürgens Jessica, Engel-Riedel Walburga, Prickartz Alexander, Ludwig Corinna, Schildgen Oliver, Tillmann Ramona-Liza, Stoelben Erich, Brockmann Michael, Schildgen Verena
Lungenklinik, Kliniken der Stadt Köln gGmbH, Klinikum der Privaten Universität Witten Herdecke mit Sitz in Köln.
Future Oncol. 2014 Mar;10(4):529-32. doi: 10.2217/fon.13.194.
A total of three cases with novel constellations regarding mutation patterns in non-small-cell lung cancer (NSCLC) are reported. The mutation patterns that are observed are novel and unexpected. First, a combined simultaneous KRAS mutation and EML4-ALK translocation, both in the main tumor and a bone metastasis, were observed, these mutations are assumed to mutually exclude each other. A further two cases include a father and a daughter, both of whom are suffering from NSCLC with different EGFR mutation patterns. A common cause was assumed; however, could not be deduced to mutations in the KRAS, BRAF and EGFR genes. The aforementioned cases are important, as it must be taken into account that mutations previously assumed to be exclusive can occur in combination, may influence the clinical outcome and may require different therapy compared with single mutated tumors. It has to be discussed whether diagnostic algorithms need to be adapted. The cases of father and daughter show that further unknown factors can influence development of NSCLC.
本文报告了三例非小细胞肺癌（NSCLC）中具有新型突变模式组合的病例。观察到的突变模式是新颖且出乎意料的。首先，在主肿瘤和骨转移灶中均观察到KRAS突变与EML4-ALK易位同时存在，而这两种突变通常被认为是相互排斥的。另外两例是一对父女，他们都患有具有不同EGFR突变模式的NSCLC。推测存在一个共同原因，但无法推断为KRAS、BRAF和EGFR基因的突变。上述病例很重要，因为必须考虑到，以前认为相互排斥的突变可能会同时出现，这可能会影响临床结果，并且与单一突变肿瘤相比可能需要不同的治疗方法。是否需要调整诊断算法有待讨论。父女的病例表明，还有其他未知因素可能影响NSCLC的发生发展。
