High-throughput molecular genotyping for small biopsy samples in advanced non-small cell lung cancer patients.
BACKGROUND
Despite the key role of mutational analysis in targeted therapy, the difficulty in acquisition of adequate tumor tissues for molecular genotyping in advanced non-small cell lung cancer (NSCLC) has led to the need for a fast and efficient method for detecting genetic alterations for targeted therapy.


METHODS
We analyzed tissue specimens of advanced NSCLC. A mass spectrometry-based assay was used to investigate 471 oncogenic mutations. All tumor specimens were prepared from fresh-frozen tissues.


RESULTS
In total, there were 59 hotspot mutations in 67% of the entire patient group (41 out of 61 patients). The most frequent mutation was in TP53 (n=24, 39.3%), followed by EFGR (n=19, 31.1%). Others included MLH1, KRAS, PIK3CA, ERBB2, ABL1 and HRAS.


CONCLUSIONS
Our results suggest that molecular genotyping using high-throughput technology such as OncoMap v4 is feasible, even with small biopsied specimens from patients with advanced NSCLC.
Division of Pulmonary and Critical Care Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-dong, Gangnam-gu, Seoul 135-710, South Korea. sangwon72.um@samsung.com.
Chi Hoon
CH
Maeng
Ho Yun
HY
Lee
Young Wook
YW
Kim
Moon Ki
MK
Choi
Jung Yong
JY
Hong
Hyun Ae
HA
Jung
Kyung Soo
KS
Lee
Hojoong
H
Kim
O Jung
OJ
Kwon
Jong-Mu
JM
Sun
Jin Seok
JS
Ahn
Keunchil
K
Park
Sang-Won
SW
Um
Myung-Ju
MJ
Ahn
D000230:Adenocarcinoma / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D014408:Biomarkers, Tumor / Q000235:genetics*; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D057166:High-Throughput Screening Assays; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009364:Neoplasm Recurrence, Local / Q000235:genetics* / Q000401:mortality / Q000628:therapy; D009367:Neoplasm Staging; D011379:Prognosis; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D015996:Survival Rate
D014408:Biomarkers, Tumor
NSCLC; high-throughput method; molecular genotyping; mutation