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Abstract：
UNASSIGNED: In Indonesia, early-onset colorectal cancer (EOCRC) rates are higher in patients < 50 years old compared to Western populations, possibly due to a higher frequency of Lynch syndrome (LS) in CRC patients. We aimed to examine the association of KRAS and PIK3CA mutations with LS.
UNASSIGNED: In this retrospective cross-sectional single-center study, the PCR-HRM-based test was used for screening of microsatellite instability (MSI) mononucleotide markers (BAT25, BAT26, BCAT25, MYB, EWSR1), MLH1 promoter methylation, and oncogene mutations of BRAF (V600E), KRAS (exon 2 and 3), and PIK3CA (exon 9 and 20) in FFPE DNA samples.
UNASSIGNED: All the samples (n = 244) were from Dr. Sardjito General Hospital Yogyakarta, Indonesia. KRAS and PIK3CA mutations were found in 151/244 (61.88%) and 107/244 (43.85%) of samples, respectively. KRAS and PIK3CA mutations were significantly associated with MSI status in 32/42 (76.19%) and 25/42 (59.52%) of samples, respectively. KRAS mutation was significantly associated with LS status in 26/32 (81.25%) of samples. The PIK3CA mutation was present in a higher proportion in LS samples of 19/32 (59.38%), but not statistically significant. Clinicopathology showed that KRAS mutation was significantly associated with right-sided CRC and higher histology grade in 39/151 (25.83%) and 24/151 (16.44%) samples, respectively. PIK3CA mutation was significantly associated with female sex and lower levels of tumor-infiltrating lymphocytes in 62/107 (57.94%) and 26/107 (30.23%) samples, respectively. KRAS and PIK3CA mutations did not significantly affect overall survival (120 months) in LS and non-LS patients.
UNASSIGNED: The high probability of LS in Indonesian CRC patients is associated with KRAS and PIK3CA mutations.
UNASSIGNED: In this retrospective cross-sectional single-center study, the PCR-HRM-based test was used for screening of microsatellite instability (MSI) mononucleotide markers (BAT25, BAT26, BCAT25, MYB, EWSR1), MLH1 promoter methylation, and oncogene mutations of BRAF (V600E), KRAS (exon 2 and 3), and PIK3CA (exon 9 and 20) in FFPE DNA samples.
UNASSIGNED: All the samples (n = 244) were from Dr. Sardjito General Hospital Yogyakarta, Indonesia. KRAS and PIK3CA mutations were found in 151/244 (61.88%) and 107/244 (43.85%) of samples, respectively. KRAS and PIK3CA mutations were significantly associated with MSI status in 32/42 (76.19%) and 25/42 (59.52%) of samples, respectively. KRAS mutation was significantly associated with LS status in 26/32 (81.25%) of samples. The PIK3CA mutation was present in a higher proportion in LS samples of 19/32 (59.38%), but not statistically significant. Clinicopathology showed that KRAS mutation was significantly associated with right-sided CRC and higher histology grade in 39/151 (25.83%) and 24/151 (16.44%) samples, respectively. PIK3CA mutation was significantly associated with female sex and lower levels of tumor-infiltrating lymphocytes in 62/107 (57.94%) and 26/107 (30.23%) samples, respectively. KRAS and PIK3CA mutations did not significantly affect overall survival (120 months) in LS and non-LS patients.
UNASSIGNED: The high probability of LS in Indonesian CRC patients is associated with KRAS and PIK3CA mutations.
摘要：
■在印度尼西亚，与西方人群相比，年龄<50岁的患者的早发性结直肠癌（EOCRC）发病率更高，可能是由于CRC患者中Lynch综合征（LS）的发生率较高。我们旨在检查KRAS和PIK3CA突变与LS的关联。
■在这项回顾性横断面单中心研究中，基于PCR-HRM的测试用于筛选微卫星不稳定性（MSI）单核苷酸标记（BAT25，BAT26，BCAT25，MYB，EWSR1),MLH1启动子甲基化，和BRAF（V600E）的癌基因突变，KRAS（外显子2和3），和FFPEDNA样品中的PIK3CA(外显子9和20)。
■所有样本（n=244）均来自日惹Sardjito总医院，印度尼西亚。在151/244（61.88%）和107/244（43.85%）的样本中发现KRAS和PIK3CA突变，分别。在32/42（76.19%）和25/42（59.52%）的样本中，KRAS和PIK3CA突变与MSI状态显著相关，分别。在26/32(81.25%)的样本中,KRAS突变与LS状态显著相关。PIK3CA突变在19/32（59.38%）的LS样本中存在较高比例，但没有统计学意义。临床病理显示，在39/151（25.83%）和24/151（16.44%）样本中，KRAS突变与右侧CRC和较高的组织学分级显著相关。分别。在62/107（57.94%）和26/107（30.23%）样本中，PIK3CA突变与女性和较低水平的肿瘤浸润淋巴细胞显著相关，分别。KRAS和PIK3CA突变对LS和非LS患者的总生存期（120个月）没有显著影响。
■印度尼西亚CRC患者中LS的高概率与KRAS和PIK3CA突变有关。
■在这项回顾性横断面单中心研究中，基于PCR-HRM的测试用于筛选微卫星不稳定性（MSI）单核苷酸标记（BAT25，BAT26，BCAT25，MYB，EWSR1),MLH1启动子甲基化，和BRAF（V600E）的癌基因突变，KRAS（外显子2和3），和FFPEDNA样品中的PIK3CA(外显子9和20)。
■所有样本（n=244）均来自日惹Sardjito总医院，印度尼西亚。在151/244（61.88%）和107/244（43.85%）的样本中发现KRAS和PIK3CA突变，分别。在32/42（76.19%）和25/42（59.52%）的样本中，KRAS和PIK3CA突变与MSI状态显著相关，分别。在26/32(81.25%)的样本中,KRAS突变与LS状态显著相关。PIK3CA突变在19/32（59.38%）的LS样本中存在较高比例，但没有统计学意义。临床病理显示，在39/151（25.83%）和24/151（16.44%）样本中，KRAS突变与右侧CRC和较高的组织学分级显著相关。分别。在62/107（57.94%）和26/107（30.23%）样本中，PIK3CA突变与女性和较低水平的肿瘤浸润淋巴细胞显著相关，分别。KRAS和PIK3CA突变对LS和非LS患者的总生存期（120个月）没有显著影响。
■印度尼西亚CRC患者中LS的高概率与KRAS和PIK3CA突变有关。
