Department of Pediatric Surgery, Lund University Hospital, Lund, Sweden.
Department of Clinical Sciences, Section of Pediatrics, Lund University, Lund, Sweden.
Fetal Pediatr Pathol. 2022 Jun;41(3):413-425. doi: 10.1080/15513815.2020.1831661. Epub 2020 Oct 16.
This study aims to characterize the molecular signatures of sacrococcygeal teratomas (SCTs). Three SCTs were analyzed with whole genome genotyping. RNA sequencing of 10 SCTs dominated by mature, immature and neuroglial elements was analyzed. Expression in SCT-samples with different elements were compared to each other and to a reference group of malignant pediatric tumors. Macrophages, T- and B-lymphocytes were detected by immunohistochemistry. : No chromosomal imbalances were detected. SCTs showed overexpression of genes involved in neurosignaling, DNA-binding molecules and pathways of early germ cells. Genes associated with immune effector processes were overexpressed in mature compared to immature SCTs, and immune cell infiltration was found predominantly around mature epithelial elements. The broad repertoire of histological elements in SCTs reflects differences in transcriptional regulation rather than differences in gene copy numbers. A paucity of immune response in immature SCTs may be a factor contributing to their uninhibited growth.
本研究旨在描述骶尾部畸胎瘤（SCT）的分子特征。对三个 SCT 进行了全基因组基因分型分析。对以成熟、未成熟和神经胶质成分为主的 10 个 SCT 进行了 RNA 测序分析。将不同成分的 SCT 样本中的表达与恶性儿科肿瘤的参考组进行了比较。通过免疫组织化学检测巨噬细胞、T 和 B 淋巴细胞。未发现染色体不平衡。SCT 中与神经信号转导、DNA 结合分子和早期生殖细胞途径相关的基因表达上调。与未成熟 SCT 相比，成熟 SCT 中与免疫效应过程相关的基因表达上调，并且主要在成熟上皮成分周围发现免疫细胞浸润。SCT 中广泛的组织学成分反映了转录调控的差异，而不是基因拷贝数的差异。未成熟 SCT 中免疫反应的缺乏可能是其不受抑制生长的一个因素。
