在一例结直肠癌FFPE样本中揭示STRs不稳定性：病例报告
Unveiling STRs instability in a colorectal cancer FFPE sample: a case report
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影响因子:2.3
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
DOI:
10.1007/s00414-024-03341-w
摘要
在法医遗传学中，有时在生前采集的福尔马林固定石蜡包埋（FFPE）活检样本是唯一可用于个体识别或亲子鉴定的生物样本。在大多数情况下，这种组织表现为肿瘤细胞的存在，其微卫星不稳定性（MSI/LOH）明显高于正常组织细胞中的DNA。在本病例报告中，获得同一男性受试者的两个FFPE样本：一个为结直肠癌组织，另一个为正常组织（无癌性组织学特征）。比较两种组织提取的DNA的遗传谱，发现肿瘤组织中存在影响FGA、CSF1P0、D21S2055基因座的三种基因组不稳定现象，位于不同的常染色体上，还存在影响DYS438的重复现象。因此，由于MSI/LOH现象，肿瘤组织获得的遗传谱受到扭曲，形成虚假的遗传谱，不能反映受试者的实际遗传信息（正常组织，无肿瘤细胞）。
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).