Ewing's sarcoma is a rare malignant tumor of the foot in children. We report a case of Ewing's sarcoma of the talus in a four-year-old Chinese girl to highlight the initial difficulty in diagnosis and the clinical course of the disease. She was initially diagnosed as osteomyelitis of the talus and died eight months after presentation with pleural and spinal metastases. To the best of our knowledge, Ewing's sarcoma of the talus in a young child has never been reported in Malaysia.
A 19-year-old girl presented to the rheumatology clinic for left knee monoarthritis for the past 4 months. She also had constitutional symptoms with significant weight loss. On physical examination, she appeared cachexic, her left knee was swollen and tender. MRI of the left knee showed a soft tissue swelling extending into the knee joint. Left knee synovial fluid showed small round cells. Histopathology results were compatible with Ewing's sarcoma. Due to the delay in seeking medical advice, she succumbed to the disease 1 week after the diagnosis was made. Soft tissue/bone tumour causes monoarthritis is not common. A careful history taking, physical examination and investigations should be done in order to identify a sinister cause of monoarthritis such as Ewing's sarcoma. Early treatment should be initiated to ensure a better outcome.
Ewing sarcoma (ES)/ primitive neuroectodermal tumour (PNET) is an aggressive malignant neoplasm affecting mainly children and young adults. The tumour is included with other primitive neoplasms under the category of small round cell tumour. Cytokeratin expression in ES/PNET has been described in sporadic case reports as well as a few systemic series. We studied this feature in Malaysian patients diagnosed in University Malaya Medical Centre on the basis of typical morphology and immunohistochemical assays. Immunohistochemical staining for AE1/AE3 and MNF116 were performed in 43 cases. Cytokeratin was expressed in 17 cases (39.5%) in focal, intermediate or diffuse patterns. There was no significant association between cytokeratin immunoreactivity and the following parameters: patient age, sex, skeletal and extraskeletal primary location as well as primary, metastastic or recurrent tumours or chemotherapy treatment. A significant association between cytokeratin and neuron specific enolase (NSE) expression was demonstrated. Our study supports evidence of epithelial differentiation in ES/PNET and emphasizes that the expression of cytokeratin does not exclude ES/PNET in the differential diagnosis of small round cell tumours.
Diagnosis of bone tumor currently relies on imaging and biopsy, and hence, the need to find less invasive ways for its accurate detection. More recently, numerous promising deoxyribonucleic acid (DNA) and protein biomarkers with significant prognostic, diagnostic and/or predictive abilities for various types of bone tumors have been identified from genomics and proteomics studies. This article reviewed the putative biomarkers for the more common types of bone tumors (that is, osteosarcoma, Ewing sarcoma, chondrosarcoma [malignant] and giant cell tumor [benign]) that were unveiled from the studies. The benefits and drawbacks of these biomarkers, as well as the technology platforms involved in the research, were also discussed. Challenges faced in the biomarker discovery studies and the problems in their translation from the bench to the clinical settings were also addressed.
Ewing sarcoma is a primary bone malignancy that rarely occurs in the hand. Resection and reconstruction will usually result in reduced or loss of thumb function. We describe a case of successful transplantation of non- vascularized osteoarticular second metatarsal autograft following wide resection of Ewing sarcoma of first metacarpal in an 11-year-old girl. The capsule of the graft’s metatarso-phalangeal joint was repaired to achieve mobility of the joint. This enabled preservation of thumb function by a relatively simple surgical technique. Detailed surgical procedures and excellence function after 2 years following surgery are described.
This is to report on the use of growing endoprosthesis, also known as lengthening prosthesis in the management of four patients in the paedriatic age group in the Orthopaedic Oncolgy Unit at University Malaya Medical Centre. These are custom made prosthesis, designed and made in India based on measured roentrograms. The ages of these patients vary from 6 to 13 years old. These are cases of Osteosarcoma and Ewing's sarcoma around the knee. This is the first time these custom made prosthesis have ever been used in Malaysia. We feel that this is a feasible option for limb salvage in the treatment of primary bone tumours in growing children.
Osteoarticular allografts represent a reconstructive option after bone tumor resection around the knee in growing children. The major advantage is the chance to preserve the growth plate of the remaining bone, but the disadvantage is the high failure rate eventually requiring definitive prosthetic replacement at skeletal maturity. We retrospectively reviewed 22 patients who underwent osteoarticular allograft reconstructions of the distal femur (16) or proximal tibia (6). There were 12 females and 10 males with an average age at surgery of 11 years (7-15). The diagnosis was osteosarcoma in 19 cases and Ewing sarcoma in 3. All patients underwent pre- and post-operative chemotherapy. At an average follow-up of 103 months (12-167), 18 patients (82%) were alive and 4 had died (18%). We observed 10 allograft failures requiring prosthetic replacement, 6 in distal femur and 4 in proximal tibia reconstructions. At last follow-up 8 allografts (36%) were still in place. Overall allograft survival was 79.6% at five and 45.8% at ten years. In distal femur, allograft survival was 86.2% at five and 59.1% at ten years. In proximal tibia, allograft survival was 62.5% at 5 years and 31.2% at 67 months. Average limb shortening was 3 cm (0- 5) in 8 patients with the allograft still in situ and 2 cm (0-4) in 10 patients after prosthetic replacement. Average MSTS functional score of the whole series was 25 (83.7%). The MSTS score of patients after revision with prosthetic replacement was 24 (80%) while patients who still had the allograft retained had an average MSTS scores of 26.8 (89.3%). In conclusion, osteoarticular allograft reconstruction of the knee after bone tumor resection in pediatric age can be considered a temporary solution with the aim to limit limb length discrepancy before definitive prosthetic replacement after skeletal maturity.
Ewing's sarcoma is a rare tumor first discovered by James Ewing in 1921. It is more common in bone or skeletal component compared to soft tissue or extraosseous Ewing's sarcoma. Among soft tissue Ewing’s, spinal cord involvement is rarer with only nine cases reported. We report a case of nine-year-old Malay girl who presented with low back pain for two months following a fall with progressive neurological deficits of bilateral lower limb. Magnetic resonance imaging was suggestive of a well-defined margin of intradural extramedullary tumor. With nerve sheath tumor in mind, surgical excision with laminectomy L2-S1 was performed. Intraoperative finding was an extradural mass from L3-L5 with extension to bilateral neuroforamen. Histopathology report defined a round cell tumour of Ewing’s sarcoma from the mass.
Primary primitive neuroectodermal tumour (PNET) and extraskeletal Ewing's sarcoma belongs to the Ewing's family of tumours. Primary tumours arising from breast are very rare. There are only a few case reports published on primary extraskeletal Ewing's sarcoma and PNET arising from breast. We present an extremely rare case of an inoperable primary Ewing's sarcoma arising from left breast with contralateral breast, lymphatic and lung metastasis.
Epigenetics is the study of heritable changes in gene expression that do not involve changes to the underlying DNA sequence. It is a change in phenotype without changing in genotype which in turn affects how cellsread the genes. The epigenetic change is a regular occurrence but can also be influenced by several factors including age, environment, lifestyle, and disease state. It may have damaging effects that result in diseases like cancer. At least three systems including DNA methylation, histone modification and RNA-associated gene silencing are currently considered to initiate and sustain epigenetic change. New and ongoing research is continuously uncovering the role of epigenetics in a variety of diseases including in childhood solid cancer such as Ewing sarcoma, neuroblastoma, Wilms tumours, brain tumours and rhabdomyosarcoma. A better understanding of epigenetic changes in childhood cancers can guide towards future therapy and diagnosis.