Obayashi Juma, Koizumi Hirotaka, Hoshikawa Masahiro, Wakisaka Munechika, Fujikawa Atsuko, Kitagawa Hiroaki, Takagi Masayuki
Department of Pathology, St. Marianna University School of Medicine, Kawasaki, Japan.
Division of Pediatric Surgery, St. Marianna University School of Medicine, Kawasaki, Japan.
Pathol Int. 2017 Dec;67(12):644-648. doi: 10.1111/pin.12603. Epub 2017 Nov 1.
Neonatal intussusception of the intestinal tract is rare. However, most neonatal intussusceptions have an organic lead point. For the lead point to be a neoplasm is extremely rare. We report a case that presented with neonatal intussusception with a congenital infantile fibrosarcoma as the lead point. The detection of ETV6-NTRK3 gene fusion was useful, although the definitive diagnosis was achieved by a comprehensive evaluation including this gene analysis, standard histology and immunohistochemistry. Neonatal intussusception should be suspected to be caused by a neoplasm. If pathological diagnosis is difficult, molecular analysis should be utilized to diagnose congenital infantile fibrosarcoma.
新生儿肠道套叠很少见。然而，大多数新生儿肠套叠都有器质性引导点。引导点为肿瘤极为罕见。我们报告一例以先天性婴儿纤维肉瘤为引导点的新生儿肠套叠病例。尽管通过包括该基因分析、标准组织学和免疫组织化学在内的综合评估实现了明确诊断，但检测ETV6-NTRK3基因融合是有用的。应怀疑新生儿肠套叠是由肿瘤引起的。如果病理诊断困难，应利用分子分析来诊断先天性婴儿纤维肉瘤。
