Journal of Orthopaedic Surgery 2014;22(3):423-6
Extraskeletal myxoid chondrosarcoma of the thigh in a child: a case report Zainal Abidin Ibrahim,1 Wai Hoong Chan,2 Siong Lung Wong,3 Eng Joe Ong,4 M Zulkarnaen A Narihan1
Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Kuching, Sarawak, Malaysia 2 Department of Orthopedics, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Kuching, Sarawak, Malaysia 3 Sibu Specialist Medical Centre, Sarawak, Malaysia 4 Pediatrics Department, Sabah Women and Children's Hospital, Kota Kinabalu, Sabah, Malaysia 1
ABSTRACT Extraskeletal myxoid chondrosarcoma (EMC) is aggressive in children. The condition in children differs to that in adults and to skeletal myxoid chondrosarcoma. We report on a 9-year-old girl with EMC in her left thigh. She underwent above-knee amputation. Five months later, a small mass was noted at the right lower lobe of the lung. The patient underwent one course of ifosfamide, carboplatin, and etoposide chemotherapy, followed by resection of the mass and 8 more courses of chemotherapy. At the 2-year follow-up, she was in remission radiologically. Key words: chondrosarcoma, extraskeletal myxoid; paediatrics; thigh
INTRODUCTION Extraskeletal myxoid chondrosarcoma (EMC) accounts for 3% of all soft tissue sarcomas.1
The condition is characterised by multinodular architecture, abundant myxoid matrix, and malignant chondroblast-like cells.1 The occurrence of EMC peaks in the fifth and sixth decades of life; in children, EMC is rare and tends to be more aggressive.1,2 We report a 9-year-old girl with EMC in her left thigh treated with above-knee amputation and chemotherapy. CASE REPORT In April 2011, a 9-year girl presented with a 3-month history of progressive swelling of the posterior left knee after falling from a bicycle. She was given a course of antibiotics for infection, but the swelling did not subside. The swelling (20x15x15 cm) was warm, erythematous, and fluctuant with mild tenderness, and involved the suprapatellar and posteromedial areas of the knee. The range of knee movement remained full. Magnetic resonance imaging showed the mass encroaching into the supra- and infra-patellar fat pads and located within the intermuscular plane between the sartorius and vastus medialis, which
Address correspondence and reprint requests to: Zainal Abidin Ibrahim, Department of Pathology, Faculty of Medicine and Health Sciences, Universiti Malaysia Sarawak, Lot 77 Section 22 KTLD, Jalan Tun Ahmad Zaidi Adruce, 93150 Kuching, Sarawak, Malaysia. Email: [email protected]
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Figure 1 Magnetic resonance images showing the mass encroaching into the supra- and infra-patellar fat pads and located within the intermuscular plane between the sartorius and vastus medialis, which were stretched but with no abnormal signal within. The femoral vessels (arrow) are not encased by the mass.
Figure 2 The tumour (a) ulcerating out of the skin surface (arrow), and (b) with a heterogeneous surface with infiltration into the surrounding muscle and fat, and composed of gelatinous nodules separated by fibrous septations (arrow), with foci of haemorrhage and necrosis.
were stretched but with no abnormal signal within (Fig. 1). The femoral vessels were not encased by the mass. Biopsy showed sarcomatous infiltration with myxoid features. Two weeks later, the tumour had protruded through the skin as an ulcerated lesion. The patient had several episodes of haemorrhage from the ulceration and required blood transfusions. An above-knee amputation was performed (Fig. 2), and the diagnosis of EMC was confirmed. No evidence of metastasis was detected, and postoperative radiotherapy was not given as the resection margin was tumour-free. Histologically, the tumour was composed of chondroid neoplastic cells infiltrating the surrounding muscle and fatty tissue (Fig. 3). Five months later, chest radiography and
Figure 3 The myxoid (white arrow) and cellular (black arrows) areas showing chondroid neoplastic cells with rounded to oval nuclei with vacuolated cytoplasm (H&E).
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Table Reported cases of extraskeletal myxoid chondrosarcoma in children Study Hachitanda et al.,2 1988 Hachitanda et al.,2 1988 Kauffman and Stout,4 1963 Kauffman and Stout,4 1963 Enzinger and Shiraki,5 1972 Jessurun et al.,6 1982 Klijanienko et al.,7 1990 Yi et al.,8 2004
Sex/age Presentation (years) M/4
Painless right upper arm mass Mass by the ninth ribs with pleural effusion Quadriceps extensor muscle mass Thoracic wall mass
Left thigh mass
Large scalp mass
Inguinal mass with lung metastasis Bulbous urethral mass
Han et al.,9 2010
Romañach et al.,10 2011 Boyd,11 2012
Wide excision, radiotherapy & chemotherapy Radiotherapy & chemotherapy Excision
No recurrence 18 months after excision Died after 7 months
Surgical resection; refused chemotherapy Surgical excision & chemotherapy Chemotherapy
Died after 2 months
Died after 6 months due to tumour dissemination Excision & radiotherapy Recurrences at age 5 and 10 years. Died 4 months after last resection Wide local excision followed Recurrence at 2 months. Died after by perfusion of nitrogen 5 months due to brain, heart, and mustard lung metastasis None Died on admission
Unresectable sacrococcygeal region mass Painless diffuse right Surgical excision & parotid gland mass radiotherapy Inner thigh nodule Wide local excision Thigh mass
Above-knee amputation and chemotherapy
computed tomography of the chest showed a small sub-pleural mass at the posterobasal segment of the right lower lobe of the lung. She underwent one course of ifosfamide, carboplatin, and etoposide chemotherapy for paediatric soild tumours, which consisted of intravenous ifosfamide 1500 mg/m2/ day (diluted in 1/2 normal saline, dextrose 5%) infused over 3 hours on days 1, 2, and 3, intravenous carboplatin 500 mg/m2/day (diluted in dextrose 5%) infused over one hour on day 1, and intravenous etoposide 100 mg/m2/day (diluted in normal saline) infused over 4 hours on days 1, 2, and 3. She then underwent right middle lobectomy and resection of the small sub-pleural mass. Histopathology of the pulmonary nodules was consistent with a metastasis. She underwent 8 more courses of chemotherapy, depending on the time of the recovery of her absolute neutrophil counts to >1 x109/l (reference range, 1.8– 7.8 x109/l) and platelet count to >100 x109/l (reference range, 150–450 x109/l) prior to chemotherapy. At the 2-year follow-up, she was in remission radiologically.
No recurrence 3 years after excision Complete remission for >6 months Died after 1 year due to tumour dissemination No recurrence 3 years after excision Lung metastasis 5 months after excision; in remission at 2 years
DISCUSSION The median diameter of EMC in adults is 7 cm,1 and the median age of patients with EMC is about 50 years.3 EMC is a slow-growing tumour in adults, but is more aggressive in children (Table).2–11 Ulceration and intra-tumoural haemorrhage are common EMC complications.12 EMC is distinguished from other sarcomas by its characteristic balanced chromosomal translocation t(9;22)(q22;q12), which results in the fusion gene EWS-CHN.12 This abnormality is noted in 50 to 75% of patients.1 Compared with skeletal myxoid chondrosarcoma, EMC differs at the ultrastructural and molecular levels, despite having similar light microscopy features.13 Furthermore, EMC demonstrates ultrastructural evidence of neuroendocrine differentiation and therefore is unlikely to be related to conventional skeletal myxoid chondrosarcoma.13 The resultant fusion gene products are responsible for alterations in cellular growth and cellular differentiation.13
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Factors associated with worse prognosis include older age, large tumour size (>10 cm), proximal and limb girdle location, and higher histological grade.1,14 The response rate of EMC to chemotherapy is poor; aggressive treatment is therefore recommended.15 EMC has high rates of local recurrence and tumourrelated death, although prolonged survival after metastasis is noted in some patients, with 5-, 10-, and 15-year survival being 90%, 70%, and 60%, respectively.14 There are no chemotherapy protocols for paediatric EMC patients. The ifosfamide, carboplatin, and etoposide chemotherapy protocol was used because it is a typical regimen for solid tumours. In cases of metastasis, surgical removal remains the treatment of choice. In isolated and unresectable tumours, radiotherapy can be
considered.3,16 A multicentre trial is needed to established optimal treatment protocols. ACKNOWLEDGEMENT The authors thank Mr Pan Kok Long and Ms Angela Chia Yin Yin for their assistance in preparing this case report. We also thank Prof Cheryl M Coffin, Dr Arni Talib, and Dr Noraini M Dusa for their expert opinion. DISCLOSURE No conflicts of interest were declared by the authors.
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