Steelman Charlotte, Katzenstein Howard, Parham David, Stockwell Christina, Ricketts Richard, Abramowsky Carlos, Bridge Julia A, Sorensen Poul H, Kenney Brian, Olson Thomas, Igbokwe Anne, Lopez-Terrada Dolores, Shehata Bahig
Department of Pediatric Pathology, Children's Healthcare of Atlanta, Emory University, Atlanta, GA 30322, USA.
Fetal Pediatr Pathol. 2011;30(5):329-37. doi: 10.3109/15513815.2011.587497. Epub 2011 Aug 15.
Congenital infantile fibrosarcoma (CIFS) is a rare mesenchymal tumor that primarily presents in the soft tissue of the distal extremities and occasionally in unusual locations such as the lung and retroperitoneum. Herein, we report seven cases of unusual presentations of CIFS. These cases include three in the lungs, one in the retroperitoneum with cord compression, one in the posterior trunk, one in the heart, and one infratemporal involving the sphenoid bone. All tumors demonstrated CIFS's characteristic t(12;15)(p13;q25) and associated ETV6-NTRK3 gene fusion. One of the three lung cases was previously reported as primary bronchopulmonary fibrosarcoma (PBPF), but molecular analysis of the paraffin embedded tissue revealed the ETV6-NTRK3 gene fusion consistent with CIFS. We show that CIFS may occur in unusual sites including visceral locations, and we propose that neoplasms displaying the ETV6-NTRK3 gene fusion represent the visceral components of CIFS.
先天性婴儿纤维肉瘤（CIFS）是一种罕见的间充质肿瘤，主要发生于四肢远端的软组织，偶尔也出现在不寻常的部位，如肺和腹膜后。在此，我们报告7例CIFS的不寻常表现病例。这些病例包括3例肺部病例、1例伴有脊髓压迫的腹膜后病例、1例后躯干病例、1例心脏病例以及1例累及蝶骨的颞下窝病例。所有肿瘤均显示出CIFS特征性的t(12;15)(p13;q25)以及相关的ETV6-NTRK3基因融合。3例肺部病例中的1例先前被报道为原发性支气管肺纤维肉瘤（PBPF），但对石蜡包埋组织的分子分析显示其ETV6-NTRK3基因融合与CIFS一致。我们发现CIFS可能发生在包括内脏部位在内的不寻常部位，并且我们提出显示ETV6-NTRK3基因融合的肿瘤代表CIFS的内脏成分。
