Skeletal Myxoid Chondrosarcoma Research Articles

Extra Skeletal Myxoid Chondrosarcoma of Hand – A Case Report with Review of Literature

Extraskeletal myxoid chondrosarcoma (EMC) arising from soft tissues is a rare neoplasm morphologically characterized by ill-defined nodular masses composed of cords and strands of small eosinophilic cells separated by fibrous septae along with abundant myxoid stroma. We report a middle-aged man presenting with swelling on his hand for the last 11 years. He reports occasional pain in the swelling without any increase in its size or change of color. Radiologically, it mimicked a giant cell tumor of the tendon sheath. We received a white gelatinous tumor mass showing myxoid and hemorrhagic areas on cut section. Histo-morphological examinations suggested a diagnosis of EMC. Immunohistochemistry showed a strong expression of S100 and NSE. This slow-growing mass mimicking a benign giant cell tumor of tendon sheath warranted an urgent examination for metastasis and further treatment.

Artificial intelligence significantly improves the diagnostic accuracy of deep myxoid soft tissue lesions in histology

Deep myxoid soft tissue lesions have posed a diagnostic challenge for pathologists due to significant histological overlap and regional heterogeneity, especially when dealing with small biopsies which have profoundly low accuracy. However, accurate diagnosis is important owing to difference in biological behaviors and response to adjuvant therapy, that will guide the extent of surgery and the need for neo-adjuvant therapy. Herein, we trained two convolutional neural network models based on a total of 149,130 images representing diagnoses of extra skeletal myxoid chondrosarcoma, intramuscular myxoma, low-grade fibromyxoid sarcoma, myxofibrosarcoma and myxoid liposarcoma. Both AI models outperformed all the pathologists, with a significant improvement of accuracy up to 97% compared to average pathologists of 69.7% (p < 0.00001), corresponding to 90% reduction in error rate. The area under curve of the best AI model was on average 0.9976. It could assist pathologists in clinical practice for accurate diagnosis of deep soft tissue myxoid lesions, and guide clinicians for precise and optimal treatment for patients.

Extra Skeletal Myxoid Chondrosarcoma of the Foot: A Case Report

Introduction: Extra skeletal myxoid chondrosarcoma is a rare soft tissue tumor. It is a low-grade sarcoma, arising mainly in the deep tissues and musculature of the extremities, with a histological resemblance to its bony counterpart. It accounts for less than 3% of soft tissue sarcomas, and localizes mainly in the upper extremity, shoulder, neck, orbit but also intra-abdominally. It is a tumor with a high metastatic potential and an unfavorable long-term prognosis. Extra skeletal myxoid chondrosarcoma is a tumor occurring in middle-aged patients regardless of gender or race. Treatment is multimodal including surgery, radiation therapy and chemotherapy. Case presentation: A 37-year-old female patient consulted for a subcutaneous swelling on the sole of the left foot opposite the 5th toe; evolving for approximately six years. The clinical examination and the paraclinical work-up revealed a mass that encompassed the diaphysis of the 5th metatarsal with cortical lysis opposite. This mass arrived medially at the contact of the 4th metatarsal without cortical lysis. The extension work-up was unremarkable. The histological, immunohistochemical and molecular biology examination of the surgical biopsy concluded to an extra skeletal myxoid chondrosarcoma. Polychemotherapy with andriamycin and Ifosfamide, surgery and radiotherapy at a dose of 50Gy was performed. Conclusion: Rare tumor and of difficult diagnosis, the key of the diagnosis lies in molecular biology. Survival is often prolonged despite its local aggressiveness.

Extra skeletal myxoid chondrosarcoma: A rare case report

EMC is an uncommon malignant neoplasm. In spite of its distinctive clinicopathological features, its clinical features remain debated. 1 Few cases with EMC did not show any apparent enhancement in enhanced CT scan. 2 we report a case of 82 years old male, who presented with elbow swelling and was diagnosed clinically as ganglion or bursitis, which turned out to be extra skeletal myxoid chondrosarcoma. This case is reported for its deceptive appearance clinically and for its rarity. Keywords: Chondrosarcoma, Myxoid neoplasm.

False-positive findings on 6-[18F]fluor-l-3,4-dihydroxyphenylalanine PET (18F-FDOPA-PET) performed for imaging of neuroendocrine tumors.

PET with 6-[18F]fluor-l-3,4-dihydroxyphenylalanine (18F-FDOPA) has been shown to be a useful imaging tool with a high sensitivity for the visualization of neuroendocrine tumors (NETs). 18F-FDOPA uptake in tumors other than NETs has been suggested previously, but data on this phenomenon are limited. We therefore studied the non-physiological, false-positive uptake of 18F-FDOPA in a large population of patients with a NET or with a high clinical suspicion of harboring a NET. Retrospective single-center study among adult patients in whom 18F-FDOPA PET scintigraphy was performed between January 2004 and December 2014. The original scan report was compared with the original pathology report corresponding with the 18F-FDOPA PET-positive lesion. In case this was inconsistent with the diagnosis of a NET, both the scan and the pathology slides were reassessed. Specimens of these non-NET tissues were immunohistochemically stained for AADC. 1070 18F-FDOPA PET scans from 705 patients were evaluated. Focal or multiple 18F-FDOPA-avid lesions were described in 709 18F-FDOPA PET scans (66%). Histology of these 18F-FDOPA PET-positive lesions was present in 508 (72%) cases. In seven cases, the histopathology was not compatible with NET but showed squamous cell carcinoma of the cervix, multiple myeloma (two cases), hepatocellular carcinoma, Schwannoma, adrenocortical carcinoma and a skeletal myxoid chondrosarcoma, with positive immunohistochemical staining for AADC in 67%. Pathological uptake of 18F-FDOPA does not always indicate the presence of a NET. The possibility of 18F-FDOPA uptake by tumor types other than NETs, although rare, should be considered.

Calcaneal Myxoid Chondrosarcoma: A Rare Case

Skeletal myxoid chondrosarcoma is an extraordinarily rare neoplasm with a distinct histological morphology. Although it grows slowly, the clinical course was found to be worse than usual chondrosarcoma. We report a case of a skeletal myxoid chondrosarcoma in the calcaneus of a 21-year-old female who presented to us with a feature of gradually increasing benign swelling left foot for last two years. Initial investigations were indicating towards a benign lesion for which excision of the lesion was performed. But intra operative findings were suggestive of an aggressive lesion, and to our utter surprise histopathologically it turned out to be myxoid chondrosarcoma. Because of its high malignant nature below knee amputation was performed as second definitive surgery. Since her clinical course and radiological pictures were suggestive of benign lesion we got carried away with a diagnosis of chondromyxoid fibroma and excision of the lesion was attempted without attempting histopathological diagnosis by less invasive methods.

Myxoid Chondrosarcoma of the Phalanx with an EWS Translocation

Myxoid chondrosarcoma is a histologically and genetically distinct tumor that predominantly originates in soft tissue, unlike conventional chondrosarcoma, which arises primarily in bone1-3. Several hundred cases of extraskeletal myxoid chondrosarcoma have been reported, but true intraosseous myxoid chondrosarcoma tumors have rarely been reported. Several nonrandom chromosomal translocations, most commonly t(9;22) EWS-CHN, have been identified in extraskeletal myxoid chondrosarcoma4,5. These translocations can help with diagnosis; however, to date, no such translocation has been identified in an unequivocal skeletal myxoid chondrosarcoma tumor, leading previous authors to conclude that skeletal and extraskeletal myxoid chondrosarcoma tumors are separate and distinct entities6,7. We present the case of a patient with myxoid chondrosarcoma with both a clear skeletal origin and an EWS-containing chromosomal translocation, thus providing evidence that the skeletal and extraskeletal forms of myxoid chondrosarcoma represent the same pathologic entity. The patient was informed that data concerning the case would be submitted for publication, and she consented. A nineteen-year-old woman presented with a nine-month history of a progressively enlarging, painful mass of the right long finger. There was no history of trauma or foreign-body penetration. She had no constitutional symptoms, and the medical history was remarkable only for asthma. On examination, there was a 2 × 1.5 × 1.5-cm mass involving the middle phalanx (Fig. 1). There was decreased active digital flexion, mild ulnar deviation of the finger, and normal sensation. The patient had no antecubital or axillary lymphadenopathy. Fig. 1 Photograph demonstrating a mass in the middle phalanx of the long finger. Radiographs demonstrated a lytic expansile lesion of the middle phalanx of the long finger (Figs. 2-A and 2-B). No full-thickness cortical destruction was evident, although the extensive endosteal scalloping made this difficult to confirm. The lesion extended to the proximal articular surface, …

Distinguishing Chordoid Meningiomas From Their Histologic Mimics

Chordoid meningioma, World Health Organization grade II, is an uncommon variant of meningioma with a propensity for aggressive behavior and increased likelihood of recurrence. As such, recognition of this entity is important in cases that show similar morphologic overlap with other chondroid/myxoid neoplasms that can arise within or near the central nervous system. A formal comparison of the immunohistochemical features of chordoid meningioma versus tumors with significant histologic overlap has not been previously reported. In this study, immunohistochemical staining was performed with antibodies against D2-40, S100, pankeratin, epithelial membrane antigen (EMA), brachyury, and glial fibrillary acidic protein (GFAP) in 4 cases of chordoid glioma, 6 skeletal myxoid chondrosarcomas, 10 chordoid meningiomas, 16 extraskeletal myxoid chondrosarcoma, 18 chordomas, 22 low-grade chondrosarcomas, and 27 enchondromas. Staining extent and intensity were evaluated semiquantitatively and mean values for each parameter were calculated. Immunostaining with D2-40 showed positivity in 100% of skeletal myxoid chondrosarcomas, 96% of enchondromas, 95% of low-grade chondrosarcomas, 80% of chordoid meningiomas, and 75% of chordoid gliomas. Staining with S100 demonstrated diffuse, strong positivity in all (100%) chordoid gliomas, skeletal myxoid chondrosarcomas, low-grade chondrosarcomas, and enchondromas, 94% of chordomas, and 81% of extraskeletal myxoid chondrosarcomas, with focal, moderate staining in 40% of chordoid meningiomas. Pankeratin highlighted 100% of chordoid gliomas and chordomas, 38% of extraskeletal myxoid chondrosarcomas, and 20% of chordoid meningiomas. EMA staining was positive in 100% of chordoid gliomas, 94% of chordomas, 90% of chordoid meningiomas, and 25% of extraskeletal myxoid chondrosarcomas. Brachyury was positive only in the chordomas (100%), whereas GFAP was positive only in the chordoid gliomas (100%). EMA was the most effective antibody for differentiating chordoid meningioma from skeletal myxoid chondrosarcoma, low-grade chondrosarcoma, and enchondroma, whereas D2-40 was the most effective antibody for differentiating chordoid meningioma from extraskeletal myxoid chondrosarcoma and chordoma. Our findings demonstrate that in conjunction with clinical and radiographic findings, immunohistochemical evaluation with a panel of D2-40, EMA, brachyury, and GFAP is most useful in distinguishing chordoid meningioma from chordoid glioma, skeletal myxoid chondrosarcoma, extraskeletal myxoid chondrosarcoma, chordoma, low-grade chondrosarcoma, and enchondroma. A lack of strong, diffuse S100 reactivity may also be useful in excluding chordoid meningioma. Among the neoplasms evaluated, brachyury and GFAP proved to be both sensitive and specific markers for chordoma and chordoid glioma, respectively. Of note, this study is the first to characterize the D2-40 immunoprofile in extraskeletal myxoid chondrosarcoma, results that could be of utility in differential diagnostic assessment.

Extraskeletal Myxoid Chondrosarcoma of the Perineum

Extraskeletal myxoid chondrosarcoma is an aggressive tumor with significant metastatic potential. A 40-year-old man presented with an asymptomatic mass at the left ischial fossa. Magnetic resonance imaging showed a 9x6-cm mass with variable signal intensity and cystic formations. A computed tomography scan of the chest showed multiple pulmonary nodules. A computed tomography-guided core needle biopsy was consistent with low-grade extraskeletal myxoid chondrosarcoma. Despite the presence of lung metastases, wide resection of the primary tumor was performed. Wide resection included the perineal mass and the adjacent ischiopubic ramus. Postoperative recovery was uneventful. One month postoperatively, thoracotomy was performed, and approximately 20 pulmonary nodules were excised. Histological analysis of the excised specimens was consistent with extraskeletal myxoid chondrosarcoma metastases. Two years postoperatively, the patient is alive without evidence of local recurrence or distant disease. Extraskeletal myxoid chondrosarcoma is an unusual soft tissue sarcoma with ultrastructural and molecular features distinct from that of skeletal myxoid chondrosarcoma. The EWS-CHN gene fusion is highly specific to extraskeletal myxoid chondrosarcoma; the gene fusion is positive in >or=75% of cases. Treatment should include wide excision for local tumor control. Resection of the lung metastases is feasible. Because of the prolonged survival of patients with extraskeletal myxoid chondrosarcoma, long-term follow-up is recommended for early detection of local recurrence or distant metastases.

Myxoid chondrosarcoma in the calcaneus: a case report with MR imaging findings

Skeletal myxoid chondrosarcoma is an extraordinarily rare neoplasm with a distinct histological morphology. Herein, we report a case of a myxoid chondrosarcoma in the calcaneus of a 20-year-old man with a description of its MR imaging (MRI) and histological findings.

Extraskeletal and Skeletal Myxoid Chondrosarcoma: A Multiparameter Analysis of Three Cases Including Cytogenetic Analysis and Fluorescence In Situ Hybridization.

Background: Myxoid chondrosarcoma (MCS) is a rare, low-grade, indolent tumor that can occur in soft tissue and bone. It is, however, capable of distant metastases. Previous cytogenetic data include a translocation, t(9;22)(q22-31;q12), occurring in 6 of 14 cases of the extraskeletal variant of the disease. Recently, rearrangement of the EWS gene has been reported in MCS. Methods and Results: Three cases of MCS, two skeletal and one extraskeletal, were examined to identify primary cytogenetic changes and correlate these with immunohistochemical, ultrastructural, and flow-cytometric analysis. The extraskeletal variant of MCS revealed a clonal translocation, t(9;22)(q22;q12), and trisomy for chromosomes 5, 7, 8, 12, 18, and 19. Our two cases of skeletal MCS showed complex karyotypes. In one skeletal tumor, a cryptic translocation involving chromosome 6p21.3 was identified by fluorescence in situ hybridization analysis, using chromosome-specific libraries. Conclusions: Thus far, 50% of cases of extraskeletal MCS, including our cases, have demonstrated a specific translocation, t(9;22)(q22-31;q12). Identifying this translocation is useful in confirming the diagnosis of MCS. Additional cytogenetic and molecular analysis is useful for detecting this translocation, and is also essential to determine other regions of possible diagnostic importance, such as the 6p21.3 breakpoint demonstrated in the present study. These techniques may be most useful for the skeletal lesions, in light of their heterogeneous cell populations and karyotypic variability.

Extraskeletal and skeletal myxoid chondrosarcoma: A multiparameter analysis of three cases including cytogenetic analysis and fluorescence in situ hybridization

Background: Myxoid chondrosarcoma (MCS) is a rare, low-grade, indolent tumor that can occur in soft tissue and bone. It is, however, capable of distant metastases. Previous cytogenetic data include a translocation, t(9;22)(q22-31;q12), occurring in 6 of 14 cases of the extraskeletal variant of the disease. Recently, rearrangement of the EWS gene has been reported in MCS. Methods and Results: Three cases of MCS, two skeletal and one extraskeletal, were examined to identify primary cytogenetic changes and correlate these with immunohistochemical, ultrastructural, and flow-cytometric analysis. The extraskeletal variant of MCS revealed a clonal translocation, t(9;22)(q22;q12), and trisomy for chromosomes 5, 7, 8, 12, 18, and 19. Our two cases of skeletal MCS showed complex karyotypes. In one skeletal tumor, a cryptic translocation involving chromosome 6p21.3 was identified by fluorescence in situ hybridization analysis, using chromosome-specific libraries. Conclusions: Thus far, 50% of cases of extraskeletal MCS, including our cases, have demonstrated a specific translocation, t(9;22)(q22-31;q12). Identifying this translocation is useful in confirming the diagnosis of MCS. Additional cytogenetic and molecular analysis is useful for detecting this translocation, and is also essential to determine other regions of possible diagnostic importance, such as the 6p21.3 breakpoint demonstrated in the present study. These techniques may be most useful for the skeletal lesions, in light of their heterogeneous cell populations and karyotypic variability. (Mol Diagn 1996 Jun;1(2):99-107)