PMID- 33708898 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20210313 IS - 2305-5839 (Print) IS - 2305-5847 (Electronic) IS - 2305-5839 (Linking) VI - 9 IP - 3 DP - 2021 Feb TI - Concealed driver in lung adenocarcinoma with single PIK3CA mutation: a case report and single-center genotyping review. PG - 271 LID - 10.21037/atm-20-5948 [doi] LID - 271 AB - Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) mutation has a prevalence of approximately 2% in lung adenocarcinoma. However, cases presenting a PIK3CA mutation alone have rarely been reported, and the clinical significance of a single PIK3CA mutation has not been well discussed. We present 2 similar lung adenocarcinoma cases with a single PIK3CA alteration initially but were found to have a concurrent epidermal growth factor receptor (EGFR) mutation by another genotyping afterward. Both cases experienced an excellent partial response after combination therapy of EGFR tyrosine kinase inhibitor (EGFR-TKI) and angiogenesis inhibitor, which implies that the initial absence of EGFR mutation was a false negative. A single-center retrospective study among 2,214 cases of lung adenocarcinoma regarding their genotyping was conducted. We found that the prevalence of PIK3CA mutation in lung adenocarcinoma was 1.7%, 86.5% of which had other co-existing mutations, with EGFR mutation being the most common. PIK3CA mutation tends to be concurrent with other mutations in lung adenocarcinoma. Physicians should suspect a potential false-negative driver mutation and promptly repeat genotyping when a single PIK3CA mutation is reported in the genotyping of lung adenocarcinoma. Furthermore, physicians should consider agents targeting the driver mutation rather than agents targeting the phosphatidylinositol 3-kinase(PI3K)/Akt/mammalian target of rapamycin (mTOR) pathway for treatment. CI - 2021 Annals of Translational Medicine. All rights reserved. FAU - Zhu, Feng AU - Zhu F AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Li, Jianfu AU - Li J AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Li, Caichen AU - Li C AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Xiong, Shan AU - Xiong S AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Chen, Zhuxing AU - Chen Z AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Cheng, Bo AU - Cheng B AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Zhong, Ran AU - Zhong R AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. FAU - Liang, Wenhua AU - Liang W AD - China State Key Laboratory of Respiratory Disease and National Clinical Research Center for Respiratory Disease, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, China. LA - eng PT - Case Reports PL - China TA - Ann Transl Med JT - Annals of translational medicine JID - 101617978 PMC - PMC7940953 OTO - NOTNLM OT - PIK3CA OT - co-existing mutation OT - lung adenocarcinoma OT - molecular testing OT - targeted therapy COIS- Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at http://dx.doi.org/10.21037/atm-20-5948). The authors have no conflicts of interest to declare. EDAT- 2021/03/13 06:00 MHDA- 2021/03/13 06:01 PMCR- 2021/02/01 CRDT- 2021/03/12 07:20 PHST- 2021/03/12 07:20 [entrez] PHST- 2021/03/13 06:00 [pubmed] PHST- 2021/03/13 06:01 [medline] PHST- 2021/02/01 00:00 [pmc-release] AID - atm-09-03-271 [pii] AID - 10.21037/atm-20-5948 [doi] PST - ppublish SO - Ann Transl Med. 2021 Feb;9(3):271. doi: 10.21037/atm-20-5948.