在结直肠癌FFPE样本中揭示了Strs的不稳定：病例报告
Unveiling STRs instability in a colorectal cancer FFPE sample: a case report
影响因子:2.30000
分区:医学3区 / 医学：法1区
发表日期:2025 Jan
作者:
Giulia Soldati, Chiara Saccardo, Dario Raniero, Domenico De Leo, Stefania Turrina
摘要
在法医遗传学中，有时在生命中服用的福尔马林固定石蜡包裹（FFPE）活检材料是唯一可用于个体鉴定或亲子鉴定的生物样品。在大多数情况下，该生物组织的特征是与正常组织细胞中存在的DNA相比，微观卫星（MSI/LOH）的肿瘤细胞的存在。在本病例报告中，同一男性受试者的两个FFPE样本可用于遗传研究：一种具有遗传学的样品：一种具有结型癌症组织和其他正常组织的样本（一种样品）。从从两个组织中提取的DNA获得的遗传特征的比较表明，肿瘤组织中的三种基因组不稳定性现象影响了FGA，CSF1P0，D21S2055基因座，位于三个不同的常染色体染色体上，以及一个影响Dys438的doplication现象。因此，由于MSI/LOH现象，从肿瘤组织中获得的遗传特征被扭曲，因此产生了虚拟的遗传特征，与受试者的真实组织（不含肿瘤细胞的正常组织）相对应。
Abstract
In forensic genetics, sometimes formalin-fixed paraffin-embedded (FFPE) biopsy material taken during life is the only biological sample available for individual identification or paternity testing. In most cases, this biological tissue is characterized by the presence of tumor cells characterized by instability and loss of heterozygosity of microsatellites (MSI/LOH) compared to the DNA present in cells of normal tissue.In this case report, two FFPE samples from the same male subject were available for genetic investigation: one sample with colorectal cancer tissue and the other with normal tissue (no cancerous histopathological features). The comparison of the genetic profiles obtained from DNA extracted from the two tissues showed in the tumor tissue the presence of three genomic instability phenomena affecting FGA, CSF1P0, D21S2055 loci, located on three distinct autosomal chromosomes, and one duplication phenomenon affecting the DYS438. Therefore, due to the MSI/LOH phenomena, the genetic profile acquired from the tumor tissue was distorted and thus generated a fictitious genetic profile, not corresponding to the subject's real one (normal tissue free of tumor cells).