Department of Diagnostic Pathology, Kitasato University Kitasato Institute Hospital, Tokyo, Japan,
Department of Pathology, Kitasato University School of Medicine, Tokyo, Japan,
Acta Cytol. 2024;68(2):145-152. doi: 10.1159/000538071. Epub 2024 Mar 29.
Cancer genome analysis using next-generation sequencing requires adequate and high-quality DNA samples. Genomic analyses were conventionally performed using formalin-fixed paraffin-embedded sections rather than cytology samples such as cell block or smear specimens. Specimens collected from liquid-based cytology (LBC) have the potential to be sources of high-quality DNA suitable for genetic analysis even after long-term storage.
We collected breast tumor/lesion fractions from 92 residual LBC specimens using fine-needle aspiration (FNA) biopsy, including breast carcinoma (1 invasive carcinoma and 4 ductal carcinomas in situ), papillomatous lesion (5 intraductal papillomas), and fibroepithelial lesion (19 phyllodes tumors and 53 fibroadenomas) samples, and others (1 ductal adenoma, 1 hamartoma, 1 fibrocystic disease, and 7 unknown). DNA was extracted from all samples and subjected to DNA integrity number (DIN) score analysis.
Average DIN score collected from 92 LBC specimens was significantly higher score. In addition, high-quality DNA with high DIN values (7.39 ± 0.80) was successfully extracted more than 12 months after storage of residual LBC specimens.
Residual LBC specimens collected from FNA of the breast were verified to carry high-quality DNA and could serve as an alternate source for genetic analysis.
使用下一代测序进行癌症基因组分析需要充足且高质量的 DNA 样本。传统上,基因组分析是使用福尔马林固定石蜡包埋的切片进行的,而不是细胞学样本,如细胞块或涂片标本。从液基细胞学(LBC)收集的标本即使经过长期储存,也有可能成为适合遗传分析的高质量 DNA 来源。
我们使用细针穿刺(FNA)活检从 92 份残留的 LBC 标本中收集乳腺肿瘤/病变部分,包括乳腺浸润性癌(1 例和 4 例导管原位癌)、乳突状病变(5 例导管内乳突瘤)、纤维上皮病变(19 例叶状肿瘤和 53 例纤维腺瘤)和其他病变(1 例导管腺瘤、1 例错构瘤、1 例纤维囊性疾病和 7 例未知)。从所有样本中提取 DNA,并进行 DNA 完整性数量(DIN)评分分析。
从 92 份 LBC 标本中收集的平均 DIN 评分明显较高。此外,在储存残留 LBC 标本 12 个月后,成功提取了具有高 DIN 值(7.39±0.80)的高质量 DNA。
从 FNA 收集的残留 LBC 标本被证实携带高质量的 DNA,可以作为遗传分析的替代来源。