ecancermedicalscience

Research

Mutational frequency of KRAS, NRAS, IDH2, PIK3CA, and EGFR in North Indian gallbladder cancer patients

7 Aug 2017
Aarti Sharma, Ashok Kumar, Niraj Kumari, Narendra Krishnani, Neeraj Rastogi

Background: Gallbladder cancer (GBC) has a peculiar geographical distinction, with a high prevalence seen in North India and Chile. There are various aetiopathogenetic mechanisms of GBC causation; one of them is a series of pathogenic mutations, which is responsible for the malignant transformation of gallbladder epithelium. Therefore, the present study aimed to find out cancer-specific hot spot mutations in five major cancer-related genes KRAS exon1 &2, NRAS exon1, IDH2 exon, PIK3CA exon 20, IDH2 exon 4 and EGFR exon 20 in North Indian GBC patients and their association with clinicopathological variables.

Material and methods: This study included 34 histopathologically confirmed GBC cases. The clinical material consisted of formalin-fixed paraffin-embedded (FFPE) blocks of the patients. DNA isolation was done from FFPE tissue. DNA sequencing was performed by the capillary electrophoresis method. The chi-square (χ2) test was used to test for a statistically significant relationship between two categorical study variables.

Results: The overall incidence of somatic mutations in KRAS exon 1&2, NRAS exon1, IDH2 exon4, PIK3CA exon20, and EGFR exon 20 in Indian GBC patients was found in 8/34 (23.5%), 3/34 (8.8%), 4/34 (11.7%), 7/34 (20.6%), 7/34 (20.6%), respectively. KRAS exon 1 and two mutations were found to be significantly associated with advanced stage GBC patients.

Conclusion: KRAS, PIK3CA, and EGFR were found to be the most frequently mutated genes among the five tested in this study.

Related Articles

Francis Okongo, Catherine Amuge, Alfred Jatho, Nixon Niyonzima, David Martin Ogwang, Jackson Orem
Natalia Camejo, Camila Montenegro, Dahiana Amarillo, Cecilia Castillo, Gabriel Krygier
Asma’u Usman, Shamsu Sahalu Bello, Aisha Abdurrahman, Fatima Abubakar Rasheed, Shuaibu Adam, Abubakar Dahiru
Leonardo G da Fonseca, Marina Acevedo Zarzar de Melo, Thamires Haick Martins da Silveira, Victor Junji Yamamoto, Pedro Henrique Shimiti Hashizume, Jorge Sabbaga