Feasibility of fine-needle aspiration biopsies for the detection of somatic mutations usingnext-generation sequencing in breast cancer

breast neoplasm;next-generation sequencing;fine-needle aspiration biopsy;610

의과대학 의학과 ;

University:서울대학교 대학원

关键词: breast neoplasm;    next-generation sequencing;    fine-needle aspiration biopsy;    610;   

Others  :  http://s-space.snu.ac.kr/bitstream/10371/132771/1/000000026191.pdf

美国|英语

来源: Seoul National University Open Repository

【 摘 要 】

p = 0.44). Samples were sequenced to a mean coverage depth of 158.8x (range 138.6x – 180.5x) for GSS tissue and 158.3x (range 135.2x – 185.1x) for FNAB. Median number of somatic mutations identified in individual samples was higher in FNAB than GSS (39.5 vs. 18.5, p=0.036). When GSS tissues had high tumor content by H&E staining, somatic mutation profiles showed high correlation between matched samples by the two sampling methods. Nineteen selected mutations identified exclusively in FNAB underwent Sanger sequencing and 13 (68.4%) were validated. The mean estimated tumor purity was higher in FNAB than GSS tissue (55.87% vs. 25.76%, p < 0.0001). All FNAB samples were estimated to have consistently higher proportion of malignant cells compared to GSS tissues.Conclusion: WES was successfully carried out in all pairs of GSS tissue and FNAB from twelve breast cancer patients. In general, FNAB detected more somatic SNVs. When the GSS tissue had high tumor content by H&E staining, somatic mutation profiles showed high correlation between matched samples by the two sampling methods. FNAB samples were estimated to have consistently high proportion of malignant cells. This study suggests that FNAB is a feasible method, and furthermore, provides a reliable specimen for NGS analysis that identify somatic mutations with potential prognostic or therapeutic implication.