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Stefania Benini,1 Gabriella Gamberi,1,2 Stefania Cocchi,1 Jessica Garbetta,1 Laurent Alberti,3 Alberto Righi,1 Marco Gambarotti,1 Piero Picci,1 Stefano Ferrari4 1Department of Pathology, Rizzoli Institute, Bologna, 2Department of Biomedical and Neuromotor Science, University of Bologna, Bologna, Italy; 3Department of Pathology, Centre Léon Bérard, Lyon, France; 4Department of Chemotherapy, Rizzoli Institute, Bologna, Italy Background: Circulating tumor cells (CTCs) analysis is a promising new diagnostic field to estimate risk and monitor treatment efficacy, metastatic relapse, and progression in cancer patients. The study aim was to isolate and characterize CTCs in blood samples of Ewing sarcoma (ES) patients exploiting two main characteristics: CD99 expression and presence of chromosomal translocations.Materials and methods: The method isolated CTCs from peripheral blood (PB) of ES patients. Cell-surface CD99 was a useful marker for CTCs determined using immunomagnetic separation with microbeads and CD99 monoclonal antibody. We tested sensitivity and specificity by detecting CTCs in blood collected from healthy donors and randomly during therapy from 18 ES patients. Evidence of CTCs was confirmed by detection of specific molecular markers using quantitative and digital reverse transcription-polymerase chain reaction targeting EWSR1/FLI1 type 1 and type 2 or EWSR1/ETS-related gene transcripts type 1 and type 9e.Results: Feasibility of finding CTCs in PB of ES patients by immunoseparation with CD99 antibody and magnetic microbeads was demonstrated for the first time. At molecular analysis, three PB specimens tested positive for chimeric EWSR1/FLI1 type 2 and one PB for chimeric EWSR1/FLI1 type 2. CTCs detection was found above a limit of detection of 1 cell/mL of PB.Conclusion: CTCs in PB of ES patients can be identified by this method and in ES CTCs analysis can be used as a liquid biopsy approach for prognostic and predictive purposes. The potential clinical implications of CTCs in PB samples detected by the platform for CTC isolation with molecular confirmation during therapy require further evaluation. Keywords: circulating tumor cells, anti-CD99 antibody, magnetic beads, Ewing sarcoma, immunoseparation, liquid biopsy

Dedifferentiated chondrosarcoma is defined by the presence of a low grade malignant cartilaginous component juxtaposed to a high grade malignant non-cartilaginous sarcomatous components. Only 4 cases in which the high grade component showed epithelial differentiation have been reported in the literature; three featured a squamous and the one a glandular epithelial component. Here we describe a case of dedifferentiated chondrosarcoma exhibiting epithelial “adamantinoma-like” basaloid features. The patient underwent wide resection of the proximal tibia and post-operative chemotherapy and died 8 months after the diagnosis due to lung and bone metastases. [ABSTRACT FROM AUTHOR]

Tenosynovial giant cell tumour, diffuse type, also known under a variety of other terms including diffuse pigmented villonodular synovitis, tends to be locally aggressive and not infrequently can show multiple recurrences. The differential diagnosis with the extremely rare and somewhat controversial malignant variant of tenosynovial giant cell tumour, diffuse type, is challenging due to overlapping radiologic features of these two entities. Malignant tenosynovial giant cell tumour is defined by the presence of overtly malignant sarcomatous areas. We describe a very unusual case of a 63-year-old man affected by tenosynovial giant cell tumour, diffuse type of the knee that, despite absence of morphologic evidence of sarcomatous transformation, developed inguinal lymph node metastases following multiple surgical procedures. [ABSTRACT FROM AUTHOR]

Myoepithelioma is a very rare tumour. This tumor type has been reported in the soft tissue, ear, sinonasal cavity, breast and lung. Although rare, myoepithelioma can occur in bone. We present the first case of myoepithelioma in the spine, documenting the clinical, radiographic and pathological features. [ABSTRACT FROM AUTHOR]

Abstract: Introduction: Primary bone tumors are rare and require a multidisciplinary approach. Diagnosis involves primarily the radiologist and the pathologist. Bone lesions are often heterogeneous and the microscopic diagnostic component(s) may be in the minority, especially on core needle biopsies. Reactive processes, benign, and malignant tumors may have similar microscopic aspects. For these challenging cases, the correlation of microscopic and radiologic information is critical, or diagnostic mistakes may be made with severe clinical consequences for the patient. The purpose of this article is to explain how pathologists can best use imaging studies to improve the diagnostic accuracy of bone lesions. Diagnosis: Many bone lesions are microscopically and/or radiographically heterogeneous, especially those with both lytic and matrix components. Final diagnosis may require specific microscopic diagnostic features that may be present in the lesion, but not the biopsy specimen. A review of the imaging helps assess if sampling was adequate. The existence of a pre-existing bone lesion, syndrome (such as Ollier disease or multiple hereditary exostosis), or oncologic history may be of crucial importance. Finally, imaging information is very useful for the pathologist to perform accurate local and regional staging during gross examination. Conclusion: Close teamwork between pathologists, radiologists, and clinicians is of utmost importance in the evaluation and management of bone tumors. These lesions can be very difficult to interpret microscopically; imaging studies therefore play a crucial role in their accurate diagnosis. [Copyright &y& Elsevier]

Extraskeletal myxoid chondrosarcoma is a rare neoplasm of soft tissue. The usual location is in deep parts of the proximal extremities and limb girdles in middle-aged adults. The bone location as primary location is extremely rare and few cases are reported. We present three cases arising in bone with molecular confirmation using both RT-PCR and FISH analysis. Patients include two men and one woman with an age of 62, 69 and 73 years old. The mean size of the lesion was 13 cm (range 8–18 cm). Tumors arose in the iliac bone in two cases and in the proximal humerus in the other case. At time of diagnosis the three cases show bone cortex and soft tissue involvement. On imaging, lesions have a lobular pattern, are purely lytic, but take up contrast medium after injection. Two patients are alive with disease (local recurrence and lung metastasis) after five years and five years and six months, respectively and one patient died of disease two years after the diagnosis. The primary extraskeletal myxoid chondrosarcoma of bone seems to have a more aggressive behavior than the soft tissue counterpart. The molecular confirmation of diagnosis using RT-PCR is necessary to do the differential diagnosis with other entities, in particular with myoepithelioma that shows similar morphological features and EWSR1 and FUS genes rearrangement. [ABSTRACT FROM AUTHOR]

Abstract: Periprosthetic osteolysis is a well known phenomenon caused by wear particle-induced bone resorption, particularly common and extensively reported in total hip arthroplasty. Its typical radiographic feature is a radiolucent area adjacent to an implant, sometimes associated with a soft tissue mass. Osteolytic changes may be caused by numerous other pathologic processes, including infection, metabolic disease, and neoplasia. Four cases of massive periprosthetic bone destruction associated with a large soft tissue mass around a failed total hip replacement are presented. In three cases, a diagnosis of periprosthetic osteolysis was correctly made and managed by revision surgery. However, in one case angiosarcoma of the ipsilateral hemipelvis went long unrecognized despite aggressive clinical course, requiring hind-quarter amputation and ultimately resulting in the patient''s death. Periprosthetic malignancy in the form of either primary sarcoma or metastatic cancer is a very rare yet reported event in the setting of previous hip replacement, likely leading to catastrophic consequences when diagnosis is not established in a timely manner. The differential diagnosis of periprosthetic osteolysis should consider the entire spectrum of conditions that can present with radiolucent changes. Thorough review of patient''s history and course of symptoms, along with careful evaluation of standard roentgenograms should be always performed and possibly integrated with imaging modalities such as CT, MRI, and bone scintigraphy in order to increase diagnostic accuracy. If uncertainty remains, biopsy should always be considered to rule out malignancy. [Copyright &y& Elsevier]