Weissferdt Annikka, Neuling Kim, English Martin, Arul Suren, McMullan Dominic, Ely Alison, Bründler Marie-Anne, Brown Rachel
Birmingham Children's Hospital, Department of Histopathology, West Midlands, UK.
Pediatr Dev Pathol. 2006 May-Jun;9(3):229-33. doi: 10.2350/06-01-0018.1.
We report the case of an 11-year-old girl with a retroperitoneal tumor in the left upper quadrant. The girl was admitted to hospital with weight loss and a painless abdominal mass that on biopsy was diagnosed as a peripheral primitive neuroectodermal tumor/Ewing sarcoma (pPNET/EWS) of the soft tissue. The patient underwent chemotherapy followed by surgical resection of the tumor 5 months after diagnosis. The posttreatment residual viable tumor showed a morphologic appearance resembling a neuroblastoma. Interphase and metaphase fluorescent in situ hybridization (FISH) studies performed on the pretreatment and posttreatment samples showed the presence of a t(11;22) rearrangement resulting in EWSR1/FLI1 gene fusion consistent with pPNET/EWS in both specimens. This case is unusual in the sense of showing the typical gene fusion for pPNET/EWS both in the pretherapy sample with the typical morphological appearance of this tumor and in the posttherapy specimen showing neural differentiation suggestive of a neuroblastoma.
我们报告了一例11岁左上腹腹膜后肿瘤女孩的病例。该女孩因体重减轻和无痛性腹部肿块入院，活检诊断为软组织外周原始神经外胚层肿瘤/尤因肉瘤（pPNET/EWS）。患者在诊断后5个月接受了化疗，随后进行了肿瘤手术切除。治疗后残留的存活肿瘤表现出类似神经母细胞瘤的形态学外观。对治疗前和治疗后样本进行的间期和中期荧光原位杂交（FISH）研究显示，两个样本中均存在t(11;22)重排，导致EWSR1/FLI1基因融合，与pPNET/EWS一致。该病例不同寻常之处在于，在治疗前样本中显示出该肿瘤典型的形态学外观，同时在治疗后标本中显示出提示神经母细胞瘤的神经分化，二者均呈现出pPNET/EWS典型的基因融合。
