Early diagnosis is assumed to improve patient survival, but whether symptom interval (SI i.e. the period between the onset of the first symptoms signs of the disease and its definitive diagnosis) has significant impact on outcome or not remain unclear.

Congenital infantile fibrosarcomas (CIFS) is a rare tumor of childhood that can be diagnosed from birth to 15 years. It has a ratio of 3.74/100 000 children and is well defined nosological entity with a well-defined pathogenetic patterns: translocation (12, 15) (p13, q25) with fusion of the gene ETV6-NTRK3.

The differential diagnosis of upper CIFS in infants must be made with lymphatic malformations, and when associated with the Kasabach-Merritt phenomenon’s (disseminated intravascular coagulopathy), haemangiomas, emangioendotelioma kaposiforme. In 26% of cases is congenital, while in 63% is diagnosed in the first 5 years. Unlike fibrosarcomas of the adult is characterized by a low rate of metastasis and a high survival rate (90% at 5 years). 74% of cases is observed in the limbs (upper> lower, distal> proximal).

The treatment of choice should to be, where possible, limb salvage and the recurrences are variable between 17% and 43%. The purpose of this paper is to present a case of CIFS, the clinical features, the oncological treatment, the reconstructive solutions and functional results obtained after reconstruction. Case report.

The child (Z.A. female), was diagnosed with a neoplasia of soft tissues of the right forearm before birth.

At birth the child underwent a needle biopsy with a diagnosis of CIFS.

The patient received four cycles of chemotherapy with reduction tumor mass of more than 50% of volume.

At month four she underwent an exeresi with wide margings and sacrifice of the radial nerve.

The reconstruction required a free flap of re-innervated latissimus dorsi muscle. After 30 months from the surgical procedure the child is disease free and has recovered extesion of the muscles of the hand and fingers.

Ewing sarcoma is a malignant bone tumour characterized, in 90% of the cases, by the balanced chromosomal translocation t(11;22) which generates a chimeric oncogene that acts as a transcriptional activator. The detection of translocation can be fundamental in cases with an extraosseous or unusual location which are histologically difficult to diagnose and it is also helpful in evaluation of residual disease. We joined immunohistochemical analysis and routine RT-PCR method together, the latter one allowing the detection of the most common fusion transcript EWS-FLI1 in archival paraffine-embedded tissues of EFT patients. We used a pair of primers which allowed us to discriminate between two subtypes of EWS-FLI1 transcript. We selected some sample for EWS-FLI1 typing using a Real-Time PCR assay.

We analysed 54 EFT patients. RNA was extracted from paraffine-embedded sections and reverse transcribed into cDNA. On every sample we performed RT-PCR and immunohistochemistry for the marker CD99; we also selected 5 samples for Real-Time PCR analysis.

Fourty-nine out of 54 samples had a RNA suitable for analysis. Thirty-six patients had EWS-FLI1 type I fusion transcript while 6 patients EWS-FLI1 type II; in 7 samples we couldn’t find any fusion transcript although their RNA was good. We tested 5 of these negative samples with Real-Time PCR and we found 2 patients who were carriers of EWS-FLI1 type I fusion transcript. CD99 resulted positive in 34 samples out of 54.

The detection of fusion transcripts using RT-PCR methods can be useful as a support to EFT diagnosis. Moreover the possibility to assess a Real-Time PCR assay enhances analysis sensibility and minimizes the chance of false positives. EFT cytogenetic characterization completes morphologic and immunophenotipic data allowing a more careful classification and an identification of subgroups with different prognosis.

Limb salvage has become the most important treatment for patients with malignant bone tumors of the lower limb. Reconstruction with endoprosthesis of the proximal femur and distal femur and proximal tibia is now the most common solution. The data of 180 consecutive patients with malignant bone tumors of the lower limbtreated between 4/1987 and 11/1998 were reviewed. The average follow up is of four years.

129 patients had surgery for primary bone sarcoma, six for aggressive GCT and 45 for metastatic carcinoma. 63 patients were reoperated for different complications. The main complications were: local recurrences in 10 patients, infection in 12 patients and mechanical complications in 35 patients. 28 patients were operated two times and 24 patients more than two times.

14 patients have undergone amputation: six because of local recurrences, four because of infection, and two for post-surgical ischemia.

Eight of the 12 infections occurred after a re-operation.

35 patients had mechanical complications: 14 patients were reoperated to replace the polyethylene bushings in of the first model of HMRTS prosthesis (Howmedica), five patients had ruptures of the femoral stem, three patients suffered mobilization of the tibial stem and two of the femoral stem, six patients required a patella prostheses for local pain.

Two patients had acetabulum wear and three had hip dislocation.

In our experience endoprosthesis reconstruction after resection of bone tumors of the lower limb is a feasible procedure for limb salvage. We must consider that more than 30% of these patients will be re-operated for different complications and that 50% of infections occours after a new surgical procedure.

Conservative treatment of neoplastic bone lesions in paediatric patients may require the sacrifice of growth cartilage with subsequent hypometria or axial deviation of the lower limb.

Segmental reconstructions can be made using acrylic cement and intramedullary nailing or allograft. In case of involvement of the joint, reconstruction can be performed with prosthesis or arthrodesis.

These reconstruction techniques can lead to a progressive deformity associated with shortening of the limb.

The resolution of legs discrepancy and axial defects in survived patients often requires more than one surgical procedure.

In our Institute, the patients affected by aforementioned defects, are treated with axial or circular external fixator at completed skeletal growth.

This paper refers complications and outcomes in five patients treated:

1st case. Male, 10 years: osteosarcoma of the distal femur healed with residual shortening of 8 centimeters.

– We proceeded with a double level lengthening (proximal femur and proximal tibia) using Ilizarov technique.

The results obtained in our patients show that the use of the external fixator increases the quality of life in long-term survivors.

Epithelioid hemangioendothelioma (EHE) is a rare vaso-formative tumor of variable biological behavior that has been considered a tumor of borderline malignancy and low-grade angiosarcoma. The majority of cases are associated with low mortality, but some metastasize and cause patient death. Its principal sites of occurrence are soft tissues, liver, lung, and bone. EHE develops as a solitary, painful mass in superficial or deep soft tissue of the extremities and it generally arises from a vessel. Cytogenetic findings are very limited and comprises three reports on totally 4 cases, describing translocations between chromosomes 1 and 3 in two cases, chromosomes 7 and 22 in one case and chromosome 10 and 14 in the last case.

We characterized immunohistochemically 5 cases of this tumour type and currently we are performing Real-Time PCR assays to analyze the expression of two genes (MDM2 and CDK4) known to be involved in pathogenesis of tumours.

Three out 5 patients presented epithelioid hemangioendothelioma of the bone while two affected soft tissues. All the samples showed positivity for CD34 and CD31; 4 samples out 5 were also positive for FLI1. We tested Factor VIII immunostaining on 3 of these cases which resulted positive; EMA was positive on 3 samples out 5. Cytocheratins (AE1/AE3, CAM 5.2 and CK7) were always negative except in one case which showed CAM 5.2 positivity. Our preliminary results by Real-Time PCR analysis performed on 5 cases suggest that MDM2 and CDK4 have a different expression in epithelioid hemangioendotheliomas compared to normal tissue.

Our study shows that use of molecular techniques such as Real-Time PCR could complement histopathological diagnosis in order to identify a marker of biologic behaviour of this enigmatic tumour type.

EH of bone is a rare vascular neoplasm, subtype of hemangioendothelioma, characterized by mesenchimal cells that have an epithelioid endothelial appearance. There are different kinds of EH: the benign epithelioid hemangioma, and the malignant epithelioid angiosarcoma.

This tumors can occurs in soft tissue, lung, liver and bones and often are multicentric.

EH generally involve the bone of the spine and lower limb and is very rare in the upper limb and the hands. The main symptom is pain; pathological fracture may occur in aggressive lesions.

Radiographically the EH is a ostelytic lesion with variable peripheral sclerosis, cortical destruction and periosteal new bone.

Treatment of EH is curettage and local adjuvants in benign lesion, en bloc resection in the low-grade forms and wide or radical surgery in the high-grade forms. Radiation therapy is suggest in inoperable situations.

In the present report we describe the clinical features, the oncological treatment and the reconstructive solutions of two cases of EH of the hand treated in the Orthopedic Oncological Center of Gaetano Pini Institute of Milan. Both cases had multiple locations in the carpus, metacarpus and phalanges. The involvement of more joints caused a delayed diagnosis (> 1 year). Exer-esi and reconstruction of several segments of the wrist and hand has led to considerable technical difficulties resolved with the collaboration of the microsurgeon and plastic surgeon.

Synovial sarcomas are mesenchimal tumours with unde-fined histogenesis which represent 5–10% of soft tissues tumours; they are divided into different subtypes according to morphology and epithelial differentiation. From a molecular point of view, synovial sarcoma is characterized by t(X;18)(p11;q11) translocation which joins SYT gene with a member of SSX gene family. We developed an efficient method to detect the two main fusion transcripts SYT-SSX1 and SYT-SSX2 based on RT-PCR or Real-Time PCR applied to archival paraffine-embedded samples.

This study includes 49 patients surgically treated for synovial sarcoma and analyzed with routine immuno-histochemical analysis. We used alternatively nested-PCR or Real-Time PCR, with SYBR green method, to detect SYT-SSX transcripts: these techniques allowed us to discriminate between the two transcripts.

In 42 subjects out of 49 we could find a specific fusion transcript and, in particular, 31 patients were carriers of SYT-SSX1 translocation. Interestingly we could find 6 patients who were carriers of both SYT-SSX1 and SYT-SSX2 transcripts. We selected nine samples for Real-Time PCR analysis and we could quantify the reciprocal ratio between the two fusion transcripts when they were both present in the same sample.

The use of molecular techniques such as RT-PCR represents a sensitive and reliable tool as a support to histopathologic diagnosis of synovial sarcoma. Moreover, Real-Time PCR enormously enhances sensibility and enables to determine single transcript quantity when both SYT-SSX1 and SYT-SSX2 are present in the same sample. This method can also be used to reclassify those cases whose diagnosis is still undefined after routine analysis.

There is more than one option for proximal humerus reconstruction after oncological resection but we believe osteochondral allografts provide a good biological solution for these defects. We report three cases with different histological diagnoses and different results following such reconstruction. The aim is to highlight the advantages and disadvantages of this surgical procedure.

The first case report concerns a 15-year-old boy (M.P.) with Ewing’s sarcoma of the proximal humerus. The gleno-humeral articulation and most of the rotator cuff were not involved by the disease. An allograft was used for the reconstruction after satisfactory resection. This allowed good restoration of the function quickly. At 12 months there was a fatigue fracture in the allograft, which required revision with a modular prosthesis. In another patient, a young woman (E.C.), a proximal humeral defect was reconstructed following resection of a benign lesion, fibrous dysplasia. She does not have complete restoration of function but there are no complications at 3 year follow up. The last case is a 49-year-old woman (M.M.), who had osteochondral allograft reconstruction of the proximal humerus after resection of a completely destroyed head by a giant cell tumour. She had good initial results but required revision surgery with Kuntscher nail and vancomycin was added to the cement due to infection.

The biological articular reconstruction after oncological wide resection allows good functional results when rotator cuff tendons are available and allografts permit a good and fitting reinsertion. The reported early restoration of function in the young boy (case 1) has to be considered in the stress-fracture genesis. The authors consider that the lack of motion in case 2 was due to a non-aggressive and careful rehabilitation: a quite poor functional result to avoid complications. The case 3 failure is due to an infection, one of most frequent complications in allograft implants. The choice of using an osteochondral allograft must be considered as a useful alternative with prosthetic replacements.

The reconstruction of a skeletal defect after resection of a bone tumour represents a challenge for the orthopaedic surgeon. Age, site of the lesion and extension of the disease often limit the choice of surgical technique for a conservative procedure, but several options are available, mainly modular, composite or custom prostheses, massive bone allografts with or without autologous vascularised fibular grafts (AVF), and arthrodeses.

An interesting reconstructive technique uses the AVF graft, with microsurgical technique, alone or associated with a massive allograft. The association of a fibular transplant with an allograft increases the mechanical strength of the reconstruction, also promoting more rapid integration. The fibula is a cortical bone and it may provide mechanical strength in the reconstruction of a large segmental bony defect if employed as a viable biological rod.

In the present paper the authors discuss their experience with 17 patients treated at the Oncological Orthopaedic Unit of the G.Pini Orthopaedic Institute, for bone tumour resection and reconstruction using AVF graft, almost always combined with a bone allograft.

No treatments were performed as augmentation in osteoarticular massive allografts. Subjects’ ages ranged from 7 to 66 years (mean 25.2 years). Most of the patients were referred for a diagnosis of malignancy (15 of 17 cases) and in only two patients were the tumours not aggressive. In 11 patients the AVF was transplanted immediately after tumour resection, while in the others it was used after problems of previous reconstruction.

The authors report two cases of deep infection and four mechanical fractures (all healed after a period of cast immobilisation with or without bone bridging). All the AVF survived and healed with a good functional result for the patients except for two recurrences that required an amputation.