Extraskeletal Myxoid Chondrosarcoma of the Jugular Foramen in a Pediatric Patient: A Case Report and Comprehensive Review of the Literature.

INTRODUCTION: Extraskeletal myxoid chondrosarcoma of the jugular foramen is a rare clinical entity, especially in the pediatric population. Thus, it can be confused with other pathologies. CASE PRESENTATION: We report an extremely rare case of a 14-year-old female patient with jugular foramen myxoid chondrosarcoma that was completely removed through microsurgical resection. CONCLUSION: The primary purpose of the treatment is gross total resection of the chondrosarcomas. However, adjuvant methods such as radiotherapy should additionally be applied in patients who have high-grade diseases or cannot undergo gross total resection because of anatomic localization.

Oncological and functional outcomes of planned and unplanned excision of soft tissue sarcoma: A retrospective study.

BACKGROUND: In soft tissue sarcomas, the oncological and functional outcomes between planned excision and unplanned excision with additional wide resection remains controversial. The purpose of this study is to determine the impact of unplanned excision on oncological and functional outcomes. METHODS: A retrospective single-center study was performed. Patients with soft tissue sarcoma surgically treated in 2005-2019 were included in this study. A total of 120 patients consisting of planned excision (PE) group (n = 88), and unplanned excision (UE) group (n = 32) were included. Overall-survival (OS), local recurrence-free survival (LRFS), metastasis-free survival (MFS), disease-free survival (DFS), incidence rate of reconstructive surgery and musculoskeletal tumor society (MSTS) score were assessed. Propensity score matching method was used in statistical analysis. RESULTS: The 5-year survival rate of OS, LRFS, MFS, and DFS did not differ between the PE and UE groups, however, rates of reconstructive surgery were higher in the UE group (PE: 48% vs. UE: 84%, p < 0.001). These results did not differ (PE: 41% vs. UE: 82%, p = 0.012) after propensity score matching was performed to align the backgrounds with difference in tumor size and depth. For MSTS score, the total score and "pain" and "emotional acceptance" scores were higher in the PE group before propensity score matching. The "pain" and "emotional acceptance" scores were higher in the PE group after propensity score matching also. CONCLUSIONS: Unplanned excision did not deteriorate oncological outcomes, however unplanned excision lead to unnecessary reconstructive surgery. Unplanned excision adversely affected patient-reported outcomes without worsening pure functional outcomes.

Intra-articular Extraskeletal EWSR1-Negative NR4A3-Positive Myxoid Chondrosarcoma: A Case Report.

CASE: Extraskeletal myxoid chondrosarcomas (EMCs) are rare soft-tissue malignancies. Intra-articular occurrence is even more rare. To our knowledge, this case is one of only 2 reported intra-articular EMC cases of the knee free of local recurrence and/or amputation at follow-up. This case is also distinctive for being fluorescence in-situ hybridization-negative for the typical EMC-balanced translocation t(9;22) which fuses EWSR1 with NR4A3, harboring instead a variant translocation resulting in fusion of NR4A3 with a less common gene fusion partner. CONCLUSION: This is a unique case of intra-articular EMC of the knee with a rare molecular fingerprint and an unusually positive outcome.

Secondary Extra-anatomic Infrainguinal Bypass following Lower Limb Tumoral Resection.

BACKGROUND: Soft tissue malignancy of lower limb can involve femoral triangle by direct tumoral invasion or secondary to ganglionic metastasis. Secondary arterial complications can appear during follow-up after initial tumoral resection and local radiation therapy. The aim of this study is to report our experience of secondary extra-anatomical lower limb revascularization following lower limb oncological resection with femoral bifurcation involvement. METHODS: This is a retrospective monocentric study including patients who underwent extra-anatomical iliopopliteal bypass, with a previous treated neoplasia involving homolateral femoral bifurcation. Proximal anastomosis was performed on the iliac artery, tunnelization was made through iliac wing, and distal anastomosis was done on distal superficial femoral or popliteal artery. RESULTS: Five patients underwent extra-anatomic iliopopliteal bypass for oncological purpose from 2008 to 2018 at our institution. Mean age at surgery time was 52 years (standard deviation = 19.3). Prosthetic graft was used in all cases. Primitive tumor involved Scarpa triangle in 3 cases (soft tissue sarcomas) and ganglionic metastasis involved Scarpa triangle in 2 cases (epidermoid carcinoma). Clinical presentation was ischemic in 4 cases and hemorrhagic in 1 case. One patient died during hospitalization. Of the 4 survivors, 3 patients had a patent bypass at the end of follow-up (2 had bypass thrombectomy, 1 patient had major amputation). CONCLUSIONS: Secondary iliopopliteal bypasses through the iliac wing following lower limb tumoral resection have acceptable results. It is a valid option for limb salvage especially after local radiation therapy and tumoral resection. Multidisciplinary management is necessary to obtain acceptable results and follow-up is mandatory.

Comparison of the diagnostic performances of core needle biopsy in myxoid versus non-myxoid tumors.

BACKGROUND: Despite the overall diagnostic utility of core needle biopsy (CNB) comparable to incisional biopsy, increased diagnostic errors have been suggested of CNB for myxoid soft tissue tumors. This study compared the diagnostic performance of CNB between myxoid and non-myxoid soft tissue tumors. METHODS: 369 patients who underwent ultrasound-guided CNB prior to resection for soft tissue tumors were classified into two groups according to resection pathology; myxoid group (n = 75) and non-myxoid group (n = 294). One-hundred and ninety-three patients were male and the median age of the patients was 40 years. Two-hundred and sixty-three tumors were malignant. RESULTS: CNB correctly diagnosed malignancy in 84% (58 of 69) for the myxoid group and 95% (184 of 194) for the non-myxoid group. For diagnosing histologic grade of soft tissue sarcoma, CNB correctly identified high grade in 78% (18 of 23) for the myxoid group and 74% (94 of 128) for the non-myxoid group. Correct diagnosis rate of histological type was significantly lower in the myxoid group (63% [47 of 75] in the myxoid group and 83% [242 of 294] in the non-myxoid group, p = 0.013). CONCLUSION: Our study suggests that CNB is useful for myxoid soft tissue tumors of the extremity, with regard to diagnosing malignancy and histologic grade. However, CNB was less useful for identifying histologic subtype in myxoid tumors than in non-myxoid tumors.

Extraskeletal myxoid chondrosarcoma of the leg in a child: A case report.

RATIONALE: Extraskeletal myxoid chondrosarcoma is a slow-growing soft tissue tumor of adults with a propensity for local recurrence and eventual metastasis. Only 17 pediatric and adolescent cases have been reported. PATIENT CONCERNS: Here we present an 11-year-old boy with a 3-year history of a slowly growing painless left leg mass. Magnetic resonance imaging of the lesion revealed a subfascial well-circumscribed lesion with intramuscular extension in the medial gastrocnemius muscle of the left leg. DIAGNOSES: He underwent wide local excision of the mass and the histomorphological and immunohistochemical findings were consistent with extraskeletal myxoid chondrosarcoma. INTERVENTIONS: Possible radiotherapy was the further management plan. OUTCOMES: He was in good condition with no evidence of recurrence at 6 months postsurgery. LESSONS: Although pediatric cases of extraskeletal myxoid chondrosarcoma were reported to be aggressive, the tumor in this case demonstrated indolent behavior. Furthermore, the tumor in this case showed primitive round cell foci which adds to a previous study that especially reported this morphology in pediatric cases.

Cardiac inflammatory myofibroblastic tumor in interventricular septum: A rare case report.

RATIONALE: Cardiac inflammatory myofibroblastic tumor (IMT) is a rare primary cardiac tumor which is currently considered as a low-grade neoplasm. The tumor has a predilection in infants and adolescents and primarily occurs as an endocardial-based cavitary mass. However, cardiac IMT that only involves the interventricular septum in middle-aged adults is extremely rarely reported. Considering its infrequency, we report a rare clinical case, with the aim of sharing our experience during the diagnostic procedures. PATIENT CONCERNS: A 45-year-old, previously healthy female, with no medical history was admitted to the outpatient clinic due to the identification of an abnormal radiographic finding during a routine health examination. DIAGNOSIS: Transthoracic echocardiography (TTE) revealed a 3.5 cm × 4.0 cm × 4.5 cm heterogeneous mass in the interventricular septum. Color Doppler echocardiography detected sparse blood flow signals inside the mass. Magnetic resonance imaging (MRI) confirmed a hyperintense T2-weighted, isointense T1-weighted mass. Three-dimensional (3D) TTE demonstrated a spherical mass in the middle part of the interventricular septum. Postoperative histopathological examinations revealed a mesenchymal tumor composed of scattered spindle myofibroblasts with a myxoid atypia, associated with infiltration of lymphocytes and plasma cells. INTERVENTIONS: Complete tumor resection was successfully performed via median sternotomy under general anesthesia. OUTCOMES: After surgery, the patient recovered successfully. The patient was in good general health without any clinical symptoms. The echocardiographic examination at the 12-month follow-up period revealed normal function of the heart, and there was no evidence of tumor recurrence. LESSONS: To our knowledge, cardiac IMT only the involving interventricular septum in a middle-aged adult has never been previously reported before. Echocardiography plays a critical role in establishing the primary diagnosis of cardiac IMT and evaluating regular follow-up examinations. Complete surgical resection of the mass is considered the first-line treatment despite the absence of symptoms.

Well-differentiated extraskeletal chondrosarcoma: about a new case.

Extraskeletal chondrosarcoma is a rare malignant tumor. The well differentiated histological type, which is found primary in soft tissue, is extremely rare. This report  describes the case of a 58-year-old woman presented with a large palpable mass in the right buttock. Imaging studies revealed a well-defined soft tissue mass, with extensive calcification. A histological examination after surgical resection confirmed the diagnosis of well-differentiated extraosseous chondrosarcoma. The outcome was favorable, without recurrence or metastasis.

Myxoid chondrosarcoma extraskeletal in pelvis location : a case report.

BACKGROUND: The extraskeletal myxoid chondrosarcoma (CME) is a rare tumor of the soft tissue, with clinically distinguishable clinical, histological, immunohistochemical, cytogenetic and evolutionary characteristics with an unfavorable long-term prognosis. CASE: We reported the case of a young patient of 18 years, accusing pelvic pain for 5 months with a poor general condition, an MRI was performed immediately, objective infiltrative mass endopelvic evoking several etiologies. The histology of the biopsy extraskeletal myxoid chondrosarcoma reveals a (CME). 's Staging came back normal. We performed an incomplete surgical resection due to the deep location of the pelvis in the tumor followed by radiotherapy. CONCLUSION: The CME is a tumor diagnosis very difficult and often delayed, despite a mostly local aggressiveness and prolonged survival, it is considered a low-grade sarcoma malignancy or intermediate malignancy. Treatment consists of complete surgical resection with a potential adjuvant radiotherapy . Chemotherapy is not very effective.

Results and functional outcomes of en-bloc resection and vascular reconstruction in extremity musculoskeletal tumors.

OBJECTIVES: This paper aims to evaluate the extremity function and vascular outcome after limb-sparing surgery for extremity musculoskeletal tumors invading vascular structure required reconstruction. METHODS: Of the 507 patients with musculoskeletal tumors, who underwent surgery between 2004 and 2007, 17 (3,3%) patients with major vessel involvement were included in the study. The mean age was 37.8 ± 14.5, with a female/male ratio of 8/9. Thirteen (76.4%) patients had Stage IIb disease, and 2 (11,7%) patients had Stage III disease. In 2 (11,7%) patients have locally aggressive tumor that had Stage 3. Fifteen (88.2%) of the cases involved lower extremity, whilst 2 (11.8%) of them involved upper extremity. An arterial reconstruction was carried out in all patients. Wide tumor resection and endoprosthetic reconstruction were performed in 6 (35.2%) patients. Other 11 (65.8%) patients were treated with wide resection and soft tissue reconstruction. Postoperative data included; perioperative morbidities such as bleeding, infection, graft thrombosis, rupture, metastatic local recurrence and mortality. Ankle brachial index (ABI) and color-flow-duplex-scan (CFDS) were done at the final follow-up of the study, in order to prove the efficacy of reconstruction. Functional outcome was evaluated with International Society of Limb Salvage (ISOLS) criteria. RESULTS: The mean follow-up was of 39 months (range 3-120). Perioperative complications were arterial graft thrombosis occurred in 3 (17.6%) patients treated acutely with thrombectomy, uncontrolled deep wound infection occurred in 2 patients whom extremities were amputated. The most frequent complication after surgery was limb edema according to possibly venous and lymphatic obstruction, staged as C1, C2 and C3 disease was established in 6 patients (two patients in each group), and 1 patient was classified as C6 disease. Three (17.6%) patients had local recurrence (1/3 patient died and 2/3 (11.7%) patients underwent transfemoral amputation). At the last follow-up, 9 (52.9%) patients were alive without evidence of disease, 8 (47.1%) patients were died due to primary disease. There were 8 (47.1%) patients alive with an intact limb. Although functional outcome scores were satisfactory, emotional acceptance scores were low. The limb salvage probability was 74.0%. CONCLUSION: Limb-sparing oncological surgery in musculoskeletal tumors with vascular invasion provides a satisfactory limb function, which may lead to an improved life quality. Arterial reconstruction has a high rate of patency in the long term. The surgeon should be aware of early perioperative complication related to vascular reconstruction and infection that effect on the rate of extremity survival. LEVEL OF EVIDENCE: Level IV, Therapeutic study.

EWSR1-SMAD3-rearranged Fibroblastic Tumor: An Emerging Entity in an Increasingly More Complex Group of Fibroblastic/Myofibroblastic Neoplasms.

Three cases of superficial acral fibroblastic spindle cell neoplasms with EWSR1-SMAD3 fusion have been recently reported. Their differential diagnosis is broad, primarily comprising rare tumors from the fibroblastic/myofibroblastic category. The aim of this report is to present 4 new cases of this entity and to discuss the appropriate differential diagnosis. Also, as the ERG antibody seems to be a characteristic marker for these tumors, we analyzed ERG immunostaining characteristics in potential mimics of this entity. All cases in our cohort occurred in women aged 5 to 68 years (mean, 36.5 y). Two were located on the hand, 1 on foot, and the last case arose on the calf. The tumor size ranged from 1 to 1.5 cm in the greatest dimension, with a mean size of 1.2 cm. Except for one recent case, follow-up was available, ranging from 7 to 18 years (mean, 11.7 y), with a recurrence noted in 1 case after 10 years. All tumors were subcutaneous and showed 2 main components. One consisted of bland, spindled cells with elongated nuclei which were round when observed on the cross-section. These cells mostly grew in relatively hypercellular, well-organized, and intersecting fascicles. The second component was prominently hyalinized and paucicellular, but lacked calcifications. Both components showed either a distinct zonation pattern, or they were randomly intermingled with each other. In all 3 analyzable tumors, next-generation sequencing showed EWSR1-SMAD3 gene fusion in each case. By fluorescence in situ hybridization, one tested case also revealed unbalanced rearrangement of the EWSR1 gene. All 4 cases showed strong, diffuse nuclear expression of ERG, whereas none of the mimics stained with this antibody except for weak to moderate staining in calcifying aponeurotic fibromas (9/10 cases). Two tumors showed focal weak to moderate expression of SAT-B2. The 4 herein presented cases further broaden the clinicopathologic spectrum of tumors with EWSR1-SMAD3 gene fusion. They also confirm that they represent a novel entity for which we propose the name EWSR1-SMAD3-rearranged fibroblastic Tumor. Our study also proves that in the context of fibroblastic/myofibroblastic tumors, ERG immunohistochemistry is a relatively specific marker for these neoplasms.

Management of Primary Soft Tissue Tumors of the Chest Wall.

Primary chest wall tumors are rare and represent a challenging clinical entity. Preoperative work-up includes a thorough history, radiographic imaging, and a biopsy approach that does not make a future definitive resection more difficult. Treatment decisions are based on tumor histology, stage, local aggressiveness, and responsiveness to chemotherapy and radiation. Wide excision is the foundation of treatment of most malignant primary chest wall tumors. The role of radiation therapy in the neoadjuvant or adjuvant setting is to reduce local recurrence. The use of adjuvant chemotherapy is more controversial. For most primary chest wall malignancies, margin-negative resection remains the best chance of cure.

Primary extraskeletal myxoid chondrosarcoma in cerebellum: A case report with literature review.

RATIONALE: Extraskeletal myxoid chondrosarcoma (EMC) is a rare malignant neoplasm of which intracranial EMC is the rarest. PATIENT CONCERNS: We present an unusual case report of a 41-year-old woman who was sent to the emergency department for a sudden headache and other symptoms related to increased intracranial pressure. INTERVENTIONS: Emergent CT revealed an occupying lesion in the left cerebellum with surrounding edema. A complete surgical excision of the lesion through a transcortical approach was performed. After the operation, this patient received adjuvant radiotherapy and temozolomide treatment. DIAGNOSES: Pathology diagnosis was an intracranial EMC. OUTCOMES: The patient survives with no tumor recurrence as of the last follow-up. Progression-free survival exceeded 20 months. LESSONS: We have reviewed the literature and here summarize the diagnosis and treatment options for intracranial EMC. Diagnosis and treatment options of this rare disease are discussed.

Extraskeletal Myxoid Chondrosarcoma of the Orbit.

Extraskeletal myxoid chondrosarcoma (EMC) is a rare soft tissue tumor. Numerous cases of EMC have been reported in different anatomical locations. There is currently only a single case of EMC of the orbit and that was reported in 1985. We report a second case of orbital EMC in a 34-year-old healthy male.

Soft tissue myoepithelial carcinoma with rhabdoid-like features and EWSR1 rearrangement: Fine needle aspiration cytology with histologic correlation.

A new case of soft tissue myoepithelial carcinoma (MEC) with rhabdoid-like differentiation is presented including cytologic, histopathologic, immunohistochemical, and molecular biologic features. A 45-year-old woman was admitted to the Hospital with nodular mass involving the lower part of the abdominal wall. Fine-needle aspiration cytology showed a round cell tumor with abundant cytoplasm in the myxoid background. The nuclei were uniform, round to ovoid, with finely distributed chromatin, nucleoli, and pale, vacuolated, or eosinophilic cytoplasm with rhabdoid-like appearance resembling a soft tissue malignant rhabdoid tumor. The surgically removed tumor was poorly demarcated, yellow, soft, and myxoid. The histopathology revealed sheets of poorly differentiated round malignant cells with focal myxoid stroma and rhabdoid-like morphology. Immunohistochemistry showed positivity for CK (AE1/AE3), EMA, S100, vimentin, CD99, and SMA; however desmin, CD34, and gliofibrilar acid protein (GFAP) were negative. Tumor cells revealed loss of INI1 expression. The EWSR1 gene rearrangement was detected by fluorescence in situ hybridization (FISH), but molecular biology failed to detect EWSR1/ETS, EWSR1/NR4A3, EWSR1/DDIT3, EWSR1/ATF1, EWSR1-POU5F1, EWSR1/ZNF444, EWSR1-PBX1 gene fusions. The final diagnosis was soft tissue malignant myoepithelioma with rhabdoid changes and EWSR1 gene rearrangement. The differential diagnosis included soft tissue malignant rhabdoid tumor, cellular extraskeletal myxoid chondrosarcoma, proximal epithelioid sarcoma, and other soft tissue tumor with EWSR1 rearrangement. To our knowledge, this is the first case of MEC with rhabdoid features and description of fine-needle aspiration cytology.

Primary extraskeletal myxoid chondrosarcoma of pulmonary arteries: a rare mimic of acute pulmonary thromboembolism.

Primary extraskeletal myxoid chondrosarcoma of the pulmonary arteries is a very rare entity. Multimodality imaging reports on this entity are few. Myxoid chondrosarcoma is characterized by chondroid and neurogenic differentiation in extraskeletal locations. These tumours represent fewer than 2.5% of all soft-tissue sarcomas, and are most commonly found in the lower extremities, limb girdles, distal extremities and trunk. We report an unusual case of a 31-year old man with histopathologically proven extraskeletal myxoid chondrosarcoma of the pulmonary arteries mimicking acute pulmonary thromboembolism.

Extraskeletal myxoid chondrosarcoma arising in the femoral vein: a case report.

Soft tissue tumors arising in deep veins of the extremities are uncommon, although a few cases of synovial sarcoma or leiomyosarcoma arising in the femoral vein have been documented. However, to the best of our knowledge, an extraskeletal myxoid chondrosarcoma (EMC) arising in the femoral vein has not been reported in the English literature. We report a case of EMC arising in the femoral vein of a 70-year-old man who presented with right leg edema and was diagnosed with a deep venous thrombosis (DVT) by computed tomography (CT). Magnetic resonance imaging (MRI) revealed a mass in the right proximal thigh that was diagnosed as myxomatous sarcoma by aspiration cytology, and anticoagulant therapy was initiated. The mass was surgically resected en bloc, including the femoral vein and surrounding soft tissue, and the femoral artery was preserved. The femoral vein was not reconstructed. The histologic diagnosis was an extraskeletal myxoid chondrosarcoma. The patient received postoperative local radiation treatment, with a total dose of 60 Gy, and is currently doing well with no evidence of local recurrence or metastasis at 8 months after surgery. In summary, this case report shows that EMC can arise in the femoral vein, and that reconstruction of the femoral vein is not always necessary during surgery for soft tissue tumors.

[Extraskeletal myxoid chondrosarcoma: a report of 5 cases and review of literature].

OBJECTIVE: To study the clinicopathologic features, immunophenotype and differential diagnosis of extraskeletal myxoid chondrosarcoma (EMC). METHODS: The clinicopathologic features of 5 cases of EMC (during the period from 2008 to 2013) were retrospectively analyzed. Immunohistochemical study (EnVision method) was carried out using the archival material. The literature was reviewed. RESULTS: There were altogether 3 female patients and 2 male patients. Their age ranged from 38 to 63 years (average = 51 years). The patients primarily presented with a tender soft tissue mass. All the tumors studied were solitary and the duration of disease onset varied from 3 months to 1 year. The sites of involvement included toe (number = 2), intracranial (number = 1), thigh (number = 1) and shoulder (number = 1). Gross examination showed white nodular masses with a gelatinous cut surface. The average tumor size measured 5.2 cm in greatest dimension. Histologically, a multinodular architecture with fibrous or loose fibrovascular septa separating lobules of tumor cells was identified. The lobules contained abundant myxoid stroma, with peripheral accentuation of tumor cellularity. Two cases were diagnosed as cellular variant of EMC, with invasive growth pattern and hemorrhage. The tumor cells in cellular EMC were arranged in solid nodules, with rare myxoid matrix in between. The nuclei were relatively uniform, round to oval and contained prominent nucleoli. The mitotic figure ranged from 5 to 10 per 10 high-power fields. Immunohistochemical study showed that all of the 5 cases were positive for vimentin, mitochondria and CD56. Two cases expressed synaptophysin and NSE. Focal positivity for these neuroendocrine markers was detected in the other 2 cases. Chromogranin and S-100 protein expression was demonstrated in 2 cases. The staining for epithelial membrane antigen was positive in case 2 and negative in the other 4 cases. CD117 showed diffuse positivity in case 1, the other 4 cases were not expressed. CONCLUSIONS: EMC is a rare soft tissue sarcoma characterized by distinctive histopathologic features and often shows neuroendocrine differentiation. Although EMC is a slow-growing tumor, it carries a high local recurrence rate and even metastases, warranting long-term follow up.

Infective complications following tumour endoprosthesis surgery for bone and soft tissue tumours.

AIMS: This study aims to describe the incidence of infective complications, including tumour endoprosthesis infection, in a cohort of patients undergoing tumour endoprosthesis surgery in Victoria, Australia. METHODS: This retrospective cohort study was performed over 15 years (January 1996-December 2010). RESULTS: 121 patients underwent tumour endoprosthesis surgery during the study period. Patients were followed for a median of 34 months (interquartile range [IQR] 17, 80). Overall, 34 patients (28%) experienced infective complications including: bacteraemia in 19 patients (16%) and tumour endoprosthesis infection in 17 (14%). The majority of patients with early and late acute infections (haematogenous) were managed with debridement and retention of the prosthesis in addition to biofilm-active antibiotics. Late chronic infections were predominantly managed by exchange of the prosthesis. The overall success rate of treatment was 71%. The success rate for debridement and retention was 75% compared with 67% for exchange procedures. CONCLUSIONS: There is a significant rate of infective complications following tumour endoprosthesis surgery including 14% of patients experiencing infection involving the tumour endoprosthesis. This study is the first to report on outcomes from debridement and retention of the prosthesis; which had comparable success rates to other treatment modalities.