Granular Cell Tumours: A Rare Entity in the Musculoskeletal System

Granular Cell Tumours are rare mesenchymal soft tissue tumours that arise throughout the body and are believed to be of neural origin. They often present as asymptomatic, slow-growing, benign, solitary lesions but may be multifocal. 1-2% of cases are malignant and can metastasise. Described series in the literature are sparse. We identified eleven cases in ten patients treated surgically and followed-up for a period of over 6 years in our regional bone and soft tissue tumour centre. Five tumours were located in the lower limb, four in the upper limb, and two in the trunk. Mean patient age was 31.2 years (range 8–55 years). Excision was complete in one case, marginal in five cases and intralesional in five cases. No patients required postoperative adjuvant treatment. Mean follow-up was 19.3 months (range 1–37 months). One case was multifocal, but there were no cases of local recurrence or malignancy. Histopathological and immunohistochemical analysis revealed the classical granular cell tumour features in all cases. We believe this case series to be the largest of its type in patients presenting to an orthopaedic soft tissue tumour unit. We present our findings and correlate them with findings of other series in the literature.

Ifosfamide May Be Safely Used in Patients with End Stage Renal Disease on Hemodialysis

Background. Pharmacokinetic data on clearance of ifosfamide in hemodialysis patients are limited. Consequently, these patients are excluded from therapy with this agent. We review the outcomes for patients at our institution with end stage renal disease on dialysis who received ifosfamide for metastatic sarcoma. Patients and Methods. We treated three patients with end stage renal disease on hemodialysis with escalating doses of ifosfamide. Data on radiographic response to therapy, WBC and platelet counts, signs or symptoms of infection, neuropathy and bladder toxicity are reported. Starting doses of ifosfamide were based on review of the literature available with subsequent modifications based on each patient's prior exposure to myelosuppressive agents and on symptoms of neurotoxicity and the degree of myelosuppression following each cycle of chemotherapy. Results. Myelosuppression was the most common side effect from therapy, but no patient developed a life threatening infection, neurotoxicity, or hematuria. One patient developed epistaxis in the setting of thrombocytopenia while on warfarin therapy. All patients had clinical evidence for therapeutic response and two had documented radiographic improvement following ifosfamide administration. Conclusion. Ifosfamide can be used safely in combination with hemodialysis in patients with end stage renal disease.

Ifosfamide May Be Safely Used in Patients with End Stage Renal Disease on Hemodialysis

Background. Pharmacokinetic data on clearance of ifosfamide in hemodialysis patients are limited. Consequently, these patients are excluded from therapy with this agent. We review the outcomes for patients at our institution with end stage renal disease on dialysis who received ifosfamide for metastatic sarcoma. Patients and Methods. We treated three patients with end stage renal disease on hemodialysis with escalating doses of ifosfamide. Data on radiographic response to therapy, WBC and platelet counts, signs or symptoms of infection, neuropathy and bladder toxicity are reported. Starting doses of ifosfamide were based on review of the literature available with subsequent modifications based on each patient's prior exposure to myelosuppressive agents and on symptoms of neurotoxicity and the degree of myelosuppression following each cycle of chemotherapy. Results. Myelosuppression was the most common side effect from therapy, but no patient developed a life threatening infection, neurotoxicity, or hematuria. One patient developed epistaxis in the setting of thrombocytopenia while on warfarin therapy. All patients had clinical evidence for therapeutic response and two had documented radiographic improvement following ifosfamide administration. Conclusion. Ifosfamide can be used safely in combination with hemodialysis in patients with end stage renal disease.

Frequency of Certain Established Risk Factors in Soft Tissue Sarcomas in Adults: A Prospective Descriptive Study of 658 Cases

Soft tissue sarcomas are rare tumours with infrequent identified aetiological factors. Several genetic syndromes as well as previous radiation therapy and/or chronic lymphoedema have been suspected to predispose to some soft tissue sarcomas. Between January 1997 and September 2005, we carried out a prospective descriptive study to estimate the frequency of some particular etiological factors among 658 patients with soft tissue sarcomas. Sarcomas associated with a clinically identified genetic disease represent 2.8% out of all cases (95%CI: 1.5–3.8%). Most of these cases (14/19) are related to Recklinghausen neurofibromatosis. Radiation-induced sarcomas represent 3.3% out of all cases (95%CI: 1.7–5.1%). Most of these cases (9/22) are related to prior breast cancer treatment. We had observed only 1 case of Stewart-Treves syndrome. Liposarcoma, the most frequent histological subtype observed, is not associated with any particular aetiological entity. Finally, most of the adult soft tissue sarcomas are not related to any classical clinically identified genetic disease or previous radiation therapy and/or chronic lymphoedema risk factors. Frequency of underlying genetic syndrome which may predispose to soft tissue sarcomas could be higher than previously reported.

Targeting mTOR in HIV-Negative Classic Kaposi's Sarcoma

A 66-year old female with HIV-negative classic Kaposi's sarcoma responded to mTOR targeting by rapamycin. The response was well documented by PET-CT. This case provides supporting evidence that the mTOR pathway may be important in the tumorigenesis of KS and that rapamycin may have activity in this disease.

Very Late Local Relapse of Ewing's Sarcoma of the Head and Neck treated with Aggressive Multimodal Therapy

Ewing's sarcoma's relapse rarely occurs more than two years after the initial diagnosis. We report the case of a 26-year-old man with a history of Ewing's sarcoma of the left maxillary sinus at the age of 10 who presented with a very late local relapse, 16 years after the first occurrence of disease. Ultimate control was achieved after multimodal therapy including surgery, high-dose chemotherapy, and radiotherapy. This report indicates that local relapses of Ewing's sarcoma can be treated with curative intent in selected cases.

Outpatient and Home Chemotherapy with Novel Local Control Strategies in Desmoplastic Small Round Cell Tumor

Desmoplastic Small Round Cell Tumor (DSRCT) has a very poor prognosis. This report illustrates novel chemotherapy and local control interventions in a 5-year old patient. The patient was treated in the outpatient setting, achieved remission, with excellent quality of life. The patient presented with massive ascites and >1000 abdominal tumors. Neoadjuvant chemotherapy included vincristine (1.5 mg/m2), ifosfamide (3 g/m2/day×3), dexrazoxane/doxorubicin (750/75 mg/m2), and etoposide (150 mg/m2). Continuous hyperthermic peritoneal perfusion (CHPP) with cisplatin (100 mg/m2) was given after extensive cytoreductive surgery. This was followed by irinotecan (10 mg/m2/day×5×2  weeks) + temozolomide monthly × 2, then abdominal radiation 30 Gy with simultaneous temozolomide (100 mg/m2/day×5). A total of 12 cycles of irinotecan and temozolamide were given. Except for initial chemotherapy, subsequent courses were in the outpatient setting. Focal retroperitoneal relapse at 18 months was treated with IMRT with bevacizumab (5 mg/kg) and 2 perihepatic metastases with radio frequency ablation/cryoablation followed by chronic outpatient maintenance chemotherapy (valproic acid, cyclophosphamide, and rapamycin). Almost 2 years from diagnosis, the patient maintained an excellent quality of life. This is a novel approach to the treatment of children with massive abdomino-pelvic DSRCT.

An Unusual Case of Hemosiderotic Fibrohistiocytic Lipomatous Lesion: Correlation of MRI and Pathologic Findings

The spectrum of lipomatous lesions ranges from benign to highly malignant disease. Differentiation between these lesions is important to indicate prognosis and choose the most appropriate treatment. Hemosiderotic fibrohistiocytic lipomatous lesion (HFLL) is a rare subtype of lipomatous tumor. The diagnosis is usually based on clinical, histological, and immunohistochemical information. Where magnetic resonance (MR) imaging is a suitable modality to assess fatty tumors, no data is reported on MR imaging of HFLL. Here, the MR characteristics are described in correlation with pathologic findings in a case of HFLL in the left thigh, an unusual location.

Rotationplasty in the Elderly

Purpose. Rotationplasty has proven its efficacy in the treatment of malignant bone tumors of the lower extremity in predominantly young patients. To our knowledge this procedure has not been reported in patients over 60 years before. Materials and Methods. 3 patients over 60 years with an A1-rotationplasty because of a sarcoma were included in this study. Complications and functional results were recorded. In one patient an electromyography was done. Results. Despite electromyography showing good adaptation of the muscles to the altered function, the functional results of these three patients were limited. two out of three patients needed a cane for walking distances over 200 meters. No secondary amputation was necessary. Discussion. Our study demonstrates that rotationplasty is an alternative to an above-knee amputation in older patients but with poorer functional results in comparison to younger patients. However, limb-salvage surgery should be preferred whenever possible.

Frequent EGFR Positivity and Overexpression in High-Grade Areas of Human MPNSTs

Malignant peripheral nerve sheath tumours (MPNSTs) are highly malignant and resistant. Transformation might implicate up regulation of epidermal growth factor receptor (EGFR). Fifty-two MPNST samples were studied for EGFR, Ki-67, p53, and survivin expression by immunohistochemistry and for EGFR amplification by in situ hybridization. Results were correlated with clinical data. EGFR RNA was also quantified by RT-PCR in 20 other MPNSTs and 14 dermal neurofibromas. Half of the patients had a neurofibromatosis type 1 (NF1). EGFR expression, detected in 86% of MPNSTs, was more frequent in NF1 specimens and closely associated with high-grade and p53-positive areas. MPNSTs expressed more EGFR transcripts than neurofibromas. No amplification of EGFR locus was observed. NF1 status was the only prognostic factor in multivariate analysis, with median survivals of 18 and 43 months for patients with or without NF1. Finally, EGFR might become a new target for MPNSTs treatment, especially in NF1-associated MPNSTs.