PMC3987357_01
A: Periosteal new bone formation showing 'onion-skin' appearance/ B: Axial T1-weighed MRI: infiltrating lesion of the metaphysis of the tibia, expanding to the surrounding tissues
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F1
Further radiologic examinations, including X-Rays and an MRI of the knee and leg confirmed the presence of a massive destruction of the proximal part of the tibia seen as an infiltrating lesion of the metaphysis of the tibia with signs of resorption (Figure 1).
PET-scan: A: before chemotherapy: primitive lesion and multiple sites of metastasis/ B: after chemotherapy (9 cycles): complete response
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F2
Finally, a whole bone scan and positron emission tomography (PET) scan confirmed all sites of neoplastic lesions (Figure 2A). After the total of nine cycles, the PET-scan showed complete response (Figure 2B).
Biopsy of a metastatic breast nodule: uniform small round cells with round nuclei
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F3
The microscopic examination of a biopsy of one of the large breast nodules revealed the presence of a small blue round cell tumour, suggesting a primary bone tumour, which was confirmed by immunohistochemistry (CD99 expression) (Figure 3).
Double colour interphase FISH analysis of tumour specimens using break-apart EWS (A) and WT1 (B) DNA probes. The present of split apart green and red hybridization signals (A) indicate EWS rearrangement (marked with arrows). Conversely, WT1 gene was not rearranged as judged by juxtaposed red/green hybridization signals (B).
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F4
FISH analysis revealed rearrangement of the EWS gene, and not of the WT1 gene, indicating the diagnosis of Ewing sarcoma (Figure 4). Four days postpartum, chemotherapy was initiated.