Page 248 - EJMO-9-1

Eurasian Journal of Medicine and
Oncology
EGFR and PIK3CA mutations in lung cancer patients

Table 3. EGFR and PIK3CA mutations detected using Sanger Table 4. The association between driver gene mutations and
sequencing clinicopathological features of non‑small cell lung cancer
patients
Exons Alteration site Protein position Number of
mutations Features N Presence of mutations
EGFR EGFR PIK3CA
Exon 18 c. 2155 G >A p.G719S 0 N % N %
c. 2125 G >A pE709K 0 Age
c. 2127_2129del p.E709_T710delins 0
<60 31 15 48.4 0 0
Exon 19 c. 2245 G >C p.E749Q 0
c. 2248 G >C p.A750P 0 ≥60 29 10 34.5 5 17.2
c. 2260 A >G p.K754E 2 p-value 0.275 0.0217
c. 2186 G >C p.G729A 0 Gender
c. 2235_2249del p.E746_A750del 3
Male 46 18 39.1 4 8.7
Exon 20 c. 2369 C >T p.T790M 1
c. 2341 T >A p.C781S 2 Female 14 7 50.0 1 7.1
c. 2389T >A p.C797S 0 p-value 0.47 1
Exon 21 c. 2573 T >G p.L858R 10 Smoking
c. 2471 G >C p.G824A 4
c. 2582 T >A p.L861Q 1 Yes 44 17 38.6 4 9.1
c. 2588 G >A p.G863D 1 No 16 8 50.0 1 6.3
c. 2500 G >T p.V834L 2
p-value 0.43 1
PIK3CA
Staging
Exon 9 c. 1624 G >A p.E542K 2 I 16 7 43.8 1 6.3
c. 1633 G >A p.E545K 0
II 17 5 29.4 2 11.8
Exon 20 c. 3140 A >T p.H1047L 1
c. 3140 A >G p.H1047R 0 III 19 11 57.9 2 10.5
c. 3140 A >C p.H1047P 2 IV 6 1 16.7 0 0
Abbreviations: EGFR: Epidermal growth factor receptor; p-value 0.196 0.806
PIK3CA: Phosphoinositide 3-kinase catalytic subunit alpha.
Histological type
In the PIK3CA gene, one mutation was identified in AC 34 15 44.1 3 8.8
the hotspot region of exon 9 (c.1624G > A, E542K) in SCC 13 5 38.5 2 15.4
two patients, and three-point mutations were observed LCLC 1 0 0 0 0
in exon 20. These point mutations included c.3140 A>T NET 6 3 50.0 0 0
(p.H1047L) in one patient and c.3140 A>C (p.H1047P) in PSC 1 1 100 0 0
two patients. Unknown 3 0 0 0 0
Notably, two patients exhibited concurrent mutations p-value 0.47 0.877
in both EGFR and PIK3CA. The first patient had the Abbreviations: AC: Adenocarcinoma; LCLC: Large-cell lung
c.1624 G>A (E542K) point mutation in PIK3CA exon 9, carcinoma; NET: Neuroendocrine tumor; PSC: Pulmonary
co-occurring with the c.2235_2249del (p.E746_A750del) sarcomatoid carcinoma; SCC: Squamous cell carcinoma.
deletion in EGFR exon 19. The second patient had the
c.3140 A>C (H1047P) mutation in PIK3CA exon 20, along (p>0.05). Similarly, no significant differences were
with the c.2471 G>C (G824A) point mutation in EGFR observed between PIK3CA common mutations and
exon 21. gender, smoking status, clinical staging, or histological
type. However, all patients exhibiting mutations in PIK3CA
3.4. Association between genetic alterations and were over 60 years old.
clinicopathological profiles

The association between the mutational profile and 4. Discussion
clinicopathological features of NSCLC patients is In recent years, molecular investigations have highlighted
summarized in Table 4. EGFR mutations were observed the importance of dysregulated signaling pathways in LC
in both men and women, as well as in younger and development. The EGFR-associated EGFR/ErbB1/HER1
older patients, with no significant differences according and ErbB2/HER2 pathways have been recognized as major
to smoking status, clinical staging, or histological types drivers of carcinogenesis in NSCLC. 3,13,13,23 Mutations

Volume 9 Issue 1 (2025) 240 doi: 10.36922/ejmo.7111