Hu Zhihong, Chou Pauline M, Jennings Lawrence J, Arva Nicoleta C
1 Department of Pathology, Loyola University Medical Center, Maywood, IL 60153, USA.
Pediatr Dev Pathol. 2013 Sep-Oct;16(5):357-63. doi: 10.2350/13-05-1335-CR.1. Epub 2013 May 29.
Infantile fibrosarcoma is a rare soft tissue tumor that usually presents either at birth or in the 1st year of life. Here we describe a case of a 4-month-old female who presented with a congenital right axillary mass. The initial clinical impression was benign vascular/lymphatic malformation. The core biopsy showed a spindle cell lesion with abundant vasculature represented by small vascular channels. However, immunohistochemical analysis did not support a diagnosis of vascular lesion/tumor. Polymerase chain reaction study for ETS Translocation Variant 6/neurotrophic tyrosine kinase receptor, type 3 fusion transcript was positive, and the diagnosis of infantile fibrosarcoma was established. The patient underwent resection of the axillary mass. Microscopic examination of the resection specimen showed numerous vascular channels. Intermixed there were also cellular areas composed of spindle cells similar to those seen in the biopsy material. Molecular studies were repeated and confirmed the diagnosis of infantile fibrosarcoma. Infantile fibrosarcoma has been previously reported in the literature to clinically masquerade as hemangioma. In addition, this case proves that infantile fibrosarcoma could also mimic vascular malformations on clinical, radiologic, and pathologic exams. In fact, the vascular component of the tumor is very unusual in our patient and represents a histologic feature that has not been described before. The case highlights the diagnostic challenges at clinical, radiologic, and pathologic levels in some cases of infantile fibrosarcoma and raises awareness among clinicians and pathologists related to another peculiar pattern that can be encountered in this disease.
婴儿纤维肉瘤是一种罕见的软组织肿瘤，通常在出生时或出生后第一年出现。在此，我们描述一例4个月大的女性患者，她表现为先天性右腋窝肿块。最初的临床印象是良性血管/淋巴管畸形。核心活检显示为梭形细胞病变，有丰富的血管，由小血管通道构成。然而，免疫组化分析不支持血管病变/肿瘤的诊断。针对ETS易位变体6/神经营养性酪氨酸激酶受体3融合转录本的聚合酶链反应研究呈阳性，从而确立了婴儿纤维肉瘤的诊断。患者接受了腋窝肿块切除术。切除标本的显微镜检查显示有大量血管通道。其间还混杂着由梭形细胞组成的细胞区域，与活检材料中所见的细胞相似。重复进行分子研究并证实了婴儿纤维肉瘤的诊断。婴儿纤维肉瘤在文献中曾被报道临床上可伪装成血管瘤。此外，该病例证明婴儿纤维肉瘤在临床、放射学和病理学检查中也可模仿血管畸形。事实上，该肿瘤的血管成分在我们的患者中非常不寻常，代表了一种以前未被描述过的组织学特征。该病例突出了某些婴儿纤维肉瘤病例在临床、放射学和病理学层面的诊断挑战，并提高了临床医生和病理学家对这种疾病中可能遇到的另一种特殊模式的认识。
