Novel low-grade renal spindle cell neoplasm with HEY1::NCOA2 fusion that is distinct from mesenchymal chondrosarcoma.

HEY1-NCOA2 fusion is most described in mesenchymal chondrosarcoma. This is the first case report of a primary renal spindle cell neoplasm of uncertain malignant potential with a HEY1::NCOA2 fusion identified by Fusionplex RNA-sequencing that is histologically distinct from mesenchymal chondrosarcoma. The neoplasm was identified in a 33-year-old woman without significant past medical history who underwent partial nephrectomy for an incidentally discovered renal mass. The histologic features of the mass included spindle cells with variable cellularity and monotonous bland cytology forming vague fascicles and storiform architecture within a myxoedematous and collagenous stroma with areas of calcification. The morphologic and immunophenotypic features were not specific for any entity but were most similar to low-grade fibromyxoid sarcoma. To date, the patient has not had recurrence, and the malignant potential of the neoplasm is uncertain.

A Rare Case Report of Mesenchymal Chondrosarcoma with Pancreatic Metastasis.

Background: Mesenchymal chondrosarcoma is a rare but aggressive subtype of sarcoma. The majority of involvement locates in the axial skeleton. Treatment modalities include radical surgery, local radiotherapy, and systemic chemotherapy. However, the long-term survival outcome remains poor. Case presentation: We present the case of a 33-year-old male with a palpable chest wall mass for one year, diagnosed with mesenchymal chondrosarcoma with surgical removal. Later, he had an unusual pancreatic tail tumor as the first presentation of disease metastasis which was proven by surgical resection one year later. Conclusion: Although mesenchymal chondrosarcoma locates mainly in the axial skeletal system, extra-skeletal soft tissue or organ involvement might be seen occasionally. Active surveillance with multidisciplinary team management could significantly prolong survival outcomes.

Intracranial extra-axial mesenchymal chondrosarcoma in a 16-month-old patient with a literature review of pediatric patients.

Mesenchymal chondrosarcoma is a rare high-grade malignant subtype of chondrosarcoma that is characterized by undifferentiated, round, or spindled mesenchymal cells, interspersed with islands of hyaline cartilage. We report a primary intracranial extra-axial mesenchymal chondrosarcoma in a 16-month-old patient with a review of the literature focusing on intracranial extra-axial MCs with or without skull involvement in pediatric patients, including differential diagnosis. The patient was admitted with a swelling in the right temporooccipital region. There was intracranial extra-dural extension of the mass, which abuts the neural parenchyma without any invasion. A complete tumor resection was performed. Pathological diagnosis was mesenchymal chondrosarcoma. The patient was free of symptoms after surgery.

Mesenchymal Chondrosarcoma in the Maxilla: A Case Report and Literature Review.

Mesenchymal chondrosarcoma is a rare high-grade variant of chondrosarcoma distinguished by its aggressive nature. Molecular studies aid in establishing the diagnosis. We present a case report of mesenchymal chondrosarcoma in the maxilla of a 39-year-old male patient and a literature review of 42 gnathic cases of mesenchymal chondrosarcoma with a discussion of clinical, imaging, microscopic, immunohistochemical, and molecular features.

Mesenchymal chondrosarcoma of the orbit masquerading as a hemophilic pseudotumor.

An 11-year-old boy presented with a lesion of the right orbit that was thought to be a hemophilic pseudotumor. Excisional biopsy revealed an unexpected diagnosis of mesenchymal chondrosarcoma. Both mesenchymal chondrosarcoma and hemophilic pseudotumor of the orbit are exceedingly rare. To the best of our knowledge, this is the first reported case of orbital mesenchymal chondrosarcoma masquerading as hemophilic pseudotumor.

[Extraskeletal mesenchymal chondrosarcoma in central nerve system: a clinicopathological analysis].

Objective: To investigate the clinicopathological features, immunophenotype, molecular genetics and prognosis of extraskeletal mesenchymal chondrosarcoma in central nerve system (CNS). Methods: The clinicopathological findings, immunohistochemistry and genetic analysis of four cases of extraskeletal mesenchymal chondrosarcoma in Xuanwu Hospital between 2014 and 2019 were reviewed and followed up. Results: The ages of patients ranged from 20-35 years. Three patients had intracranial lesions and one had intradural tumor. The characteristic histologic features were undifferentiated small cells together with scattered islands of hyaline cartilage. There was hemangiopericytoma-like pattern with calcification and ossification. The tumor cells were positive for VIM and SOX9; and the small cells were positive for CD99, NSE and NKX3.1. The cells in chondroid matrix were positive for S-100. All tumor cells were negative for markers including CKpan, EMA and desmin. At molecular analysis, HEY1-NCOA2 fusion transcripts were identified in three patients. The fusion points were between exon 4 of HEY1 and exon 13 of NCOA2. Follow-up information was obtained in two patients, and both were free from recurrence or metastasis at 8 and 20 months. Conclusions: Extraskeletal mesenchymaI chondrosarcoma is a rare CNS disease with poor prognosis. In addition to SOX9, NKX3.1 can be another useful antibody for the differential diagnosis. The combination of pathological characteristics, immunophenotype and genetic profile of tumor is essential for diagnosis.

[Mesenchymal chondrosarcoma in central nervous system: a clinicopathological analysis].

Objective: To investigate the clinicopathological features of central nervous system (CNS) mesenchymal chondrosarcoma (MCS). Methods: Nine cases of CNS MCS were collected at the First Affiliated Hospital of Fujian Medical University from September 2010 to September 2020. The clinical,imaging,histopathological and immunohistochemical features were reviewed. NCOA2 gene rearrangement was evaluated by fluorescence in situ hybridization (FISH). Results: There were three male and six female patients, with age range of 1 to 59 years (median 31 years). Six cases were intracranial and three cases were intraspinal, and the tumors showed dural attachment. They were often diagnosed as meningioma basing on preoperative imaging. Microscopically, the tumors showed a characteristic biphasic histologic pattern composed of undifferentiated mesenchymal small cells and well-differentiated hyaline cartilage islands. The small cells area were positive for SOX9 (9/9), CD99 (8/9), and without BRG1 and INI1 deletion. The cartilaginous component expressed SOX9 (9/9) and S-100 protein (8/9). NCOA2 gene break apart signal was identified in five cases (5/5). Eight patients were followed up for 4-124 months. Three patients (3/8) had recurrences within one year and two patients died of the tumor. Conclusions: CNS MCS is an extremely rare malignant neoplasm with a propensity to dural involvement. Preoperative imaging has low diagnostic accuracy. CNS MCS should be differentiated from other CNS small round cell tumors and chondrosarcoma. FISH detection of NCOA2 gene rearrangement will assist the diagnosis of MCS.

Paediatric High-Grade Intracranial Mesenchymal Chondrosarcoma: A Case Report with 6 Years of Follow-Up without Recurrence.

INTRODUCTION: Intracranial mesenchymal chondrosarcoma (MSC) is an extremely rare tumour that constitutes only 0.015% of all central nervous system tumours. These tumours usually originate from skull base synchondrosis and are often observed in young adults during their second and third decades of life. Despite the absence of a consensus regarding adjuvant radiotherapy, radical excision remains crucial for the prognosis of MSC. CASE PRESENTATION: We herein present the case of a young male patient with intracranial MSC, a malignant tumour, for which no consensus regarding its treatment has yet been established. The patient underwent radical excision followed by adjuvant radiotherapy. Histological analysis revealed a poorly differentiated tumour containing necrotic areas. Notably, no signs of recurrence had been observed after 6 years. CONCLUSION: The absence of recurrence over a long follow-up duration suggests the importance of radical excision and adjuvant radiotherapy.

Robot-assisted radical nephrectomy for primary renal mesenchymal chondrosarcoma: case report and literature review.

As an extremely rare malignant neoplasm, only 12 mesenchymal chondrosarcoma (MC) arising in kidney have been reported to date. Herein, we reported a case of primary renal MC resected with robot assistance, which has not been reported before. According to the cases reported in English literature, we analyzed the characteristics of this rare malignancy and systematically review its treatment.

Mesenchymal Chondrosarcoma of the Orbit Attached to the Optic Nerve.

Mesenchymal chondrosarcoma (MCS) is a rare tumor in the orbit. Although optic nerve displacement is a common finding in intraorbital MCS, optic nerve tissue involvement in tumor has rarely been reported in huge tumors associated with intracranial extension. Herein the authors report a patient with MCS involving optic nerve tissue without intracranial extension. A 59-year-old woman with a 2-month history of progressive proptosis and normal vision presented to us. Computed tomography revealed a clearly outlined heterogeneous mass with calcified foci in its center, which was attached to the optic nerve, magnetic resonance imaging showed the mass to be isointense to gray matter on T1- and T2-weighted images. She underwent lateral orbitotomy and partial tumor excision. Histopathologic study confirmed MCS. She refused exenteration till 1 year but the tumor recurred and her vision decreased to no light perception. Then exenteration was performed with obtaining free margin and she is now free of tumor after 6 months without radiotherapy or chemotherapy. Mesenchymal chondrosarcoma must be differentiated from more common calcified tumors attached to optic nerve like meningioma.

Mesenchymal chondrosarcoma of the orbit: A case report with 5 years of follow-up.

Mesenchymal chondrosarcoma is a rare orbital tumor. Several case reports of this rare tumor have been published in the literature but only 6 cases have documented a follow up of 5 years or more. We report a case of 28 year-old female who presented with left orbital mass. Computed Tomography (CT) revealed a lobulated mass in the superior extraconal space with dense intralesional calcification. Patient underwent complete resection of the mass and histopathology was suggestive of mesenchymal chondrosarcoma. He was given adjuvant radiotherapy and there was no recurrence or metastasis at 5 years of follow-up. The case highlights that a complete resection with adjuvant radiotherapy in cases of orbital mesenchymal chondrosarcoma offers excellent prognosis.

Clinical outcomes for patients after surgery and radiation therapy for mesenchymal chondrosarcomas.

INTRODUCTION: We report the outcome of 23 patients with mesenchymal chondrosarcomas treated with surgery and radiation therapy +/- chemotherapy. The intent of the project was to review the impact of patient and treatment variables on treatment outcome, in particular with regard to extent of surgery and radiation dose. PATIENTS AND METHODS: Twenty-three patients with mesenchymal chondrosarcomas were treated with surgery and radiation therapy (min. dose 44 Gy; max. dose 78 Gy; median dose 60 Gy; mean dose 61 Gy). RESULTS: The median survival for the entire cohort of patients was 21.65 years (95% confidence interval ± 4.25). The 5- and 10-year OS was 78.6%. Median disease-free survival for the 23 patients was 7.2 years. Disease-free survival (DFS) at 3 and 5 years was 70.7% and 57.8%, respectively. The local control rate at 5 and 10 years was 89.5% (95%CI 64.1-97.3%). Only three patients experienced local failure, three patients had regional failure, and eight developed distant metastases. CONCLUSIONS: In this cohort of patients local tumor control was high when using a combination of surgery and radiation. There was not a clear relationship between radiation dose and local tumor control. J. Surg. Oncol. 2016;114:982-986. © 2016 Wiley Periodicals, Inc.

Cervical subtotal en-bloc spondylectomy of C6 mesenchymal chondrosarcoma.

INTRODUCTION: We present a case of C6 mesenchymal chondrosarcoma and discuss safe posterior to anterior approach subtotal en-bloc spondylectomy. MATERIALS AND METHODS: A 29-year-old male consulted for our department with severe posterior neck pain doing exercise. CT scan demonstrated a primary osteolytic lesion on C6 left transverse foramen and MRI demonstrated the tumor involved C6 vertebra from layers B, C and F sectors 4-6 encasing left vertebral artery. Preoperatively neurointerventional radiology service occluded the left vertebral artery and tumor feeding artery using coil embolization. Posterior approach consist of C5-C7 laminectomy, left sided C6 and C7 nerve root sacrifice, posterior disc removal and release of C5-6-7 and posterior reconstruction. Then, position was changed to supine, and the anterior approach was followed as C5-6, C6-7 discectomy, left vertebral artery ligation and cut, longus coli resection and C6 subtotal spondylectomy with en-bloc resection of mass, mesh cage insertion and C5-C7 anterior plate fixation. During operation, frozen biopsy was performed on 8 areas (longus coli, lateral margin, anteroinferior margin, posterior margin, posterosuperior margin, C5 transverse foramen, posteroinferior margin, inferior margin) after wide resection. Tumor free margin was confirmed. RESULTS: After operation, he complained of tingling sensation of left thumb and forearm medial side, and elbow extensor motor grade was checked to 4/5 postoperatively. In the followed-up radiograph, the tumor was completely removed, and the instability of joint was not seen. As a result of observing follow-up CT at a year after the surgery, recurrence findings have not been shown up to now, and the progression of neurologic symptoms has not been shown either. CONCLUSION: Based on the Grand Round case and relevant literature, we discuss the case of mesenchymal chondrosarcoma occurring from the C6 cervical spine treated with cervical subtotal en-bloc spondylectomy. Successful en-bloc resection of the tumor was achieved using posterior to anterior approach.

Primary intraspinal dumbbell-shaped mesenchymal chondrosarcoma with massive calcifications: a case report and review of the literature.

BACKGROUND: Mesenchymal chondrosarcoma is a rare malignant tumor arising from bone or soft tissues. Instraspinal dumbbell-shaped mesenchymal chondrosarcoma is even rarer; however, it should not be neglected by clinicians. CASE PRESENTATION: A 26-year-old female was referred to our hospital with a 1.5-month history of sciatic pain and numbness in the left leg. Computed tomography and magnetic resonance imaging scans revealed an intraspinal dumbbell-shaped mass which had distinguishing features of neurogenic tumors, surprisingly, with massive calcifications, and no tumor metastasis was found. Then the patient underwent a total resection of the tumor, and during the operation, we found that the right nerve root of the fifth lumbar almost disappeared. The tumor was diagnosed as mesenchymal chondrosarcoma by histopathological examination after operation. Adjuvant therapies were not performed. However, recurrence of the tumor occurred 5 months later, and she underwent a total resection again combined with radiotherapy after second surgery. CONCLUSIONS: To the best of our knowledge, this case study presents the first report in literature about primary instraspinal dumbbell-shaped mesenchymal chondrosarcoma with massive calcifications, which may provide some evidence for clinical practice. As the clinical symptoms and radiographic findings of mesenchymal chondrosarcoma are usually not specific, clinicians should consider it as a possible case and diagnose it through careful histopathological examination. Sometimes, calcification could be seen in tumors, which may influence or reflect the growth of tumor and disease prognosis. Although prognosis in mesenchymal chondrosarcoma varies from person to person, generally, complete resection, adjuvant therapy, and regular examinations are recommended to perform for patients with mesenchymal chondrosarcoma.

A Case of Mesenchymal Chondrosarcoma Arising from the Femoral Vein with 8 Years of Follow-up.

Mesenchymal chondrosarcoma (MCS) is an infrequent malignancy of bone and soft tissue that is characterized by a peculiar bimorphic histologic pattern with areas of undifferentiated malignant small cells surrounding well-differentiated cartilaginous islands. Involvement of the large vessels is a rare occurrence. Here, we report a case of MCS arising from the femoral vein that was treated by wide-margin resection combined with autogenous vein revascularization and then followed up for 8 years. The long-term postoperative results showed distant metastasis to the pancreas and both lobes of the lung, without recurrence at the primary site. This case indicates that for MCS arising from the femoral vein, although wide-margin resection combined with autogenous vein revascularization may avoid recurrence at the primary site, this treatment strategy has no obvious benefit for controlling long-term distant metastases.

Radiation therapy is associated with fewer recurrences in mesenchymal chondrosarcoma.

BACKGROUND: Mesenchymal chondrosarcoma (MSC) is a rare variant of chondrosarcoma. Because of the rarity of the disease, most studies only contain a small number of patients and thus the prognostic variables and role of adjuvant therapies remain controversial. QUESTIONS/PURPOSES: We therefore asked (1) what the overall and disease-free survival were for patients with this diagnosis at 5 and 10 years; (2) whether there were significant prognostic factors associated with survival; and (3) whether use of adjuvant chemotherapy or radiotherapy was associated with survival in patients with MSC. METHODS: We retrospectively reviewed the cases of MSC diagnosed from 1979 to 2010 at one referral center. Forty-three cases were identified. Thirty-seven cases were analyzed for demographics, treatments, and outcomes. Thirty patients with localized disease were analyzed for prognostic factors. The minimum followup was 1 month (mean, 6 years; range, 1 month to 17 years). There were 17 females and 20 males. The mean age at diagnosis was 33 years (range, 11-65 years). Nineteen cases were skeletal and 18 cases were extraskeletal. Seventy-six percent of the tumors were located in the trunk. RESULTS: Five- and 10-year overall survival was 51% and 37%, respectively. Five- and 10-year disease-free survival was 23% and 5%, respectively. Age (< 30 years) and male sex were associated with poorer overall and disease-free survival in patients presenting with a localized tumor, respectively. Patients who did not receive radiotherapy were more likely to have a local recurrence. Adjuvant chemotherapy failed to show a significant association with overall, disease-free, metastasis-free, or local recurrence-free survival. CONCLUSIONS: The present study reinforced the role of adjuvant radiotherapy for local tumor control. LEVEL OF EVIDENCE: Level IV, therapeutic study. See Guidelines for Authors for a complete description of levels of evidence.

Management of renal extraskeletal mesenchymal chondrosarcoma.

BACKGROUND: Primary mesenchymal chondrosarcoma of the kidney is an extremely rare malignant tumor. To our best knowledge, only 9 such cases have been reported so far. CASE PRESENTATION: In the current paper, we present the case of a 67 year-old patient with recurrent left lumbar pain, increased fatigability and intermittent macroscopic hematuria. He underwent a surgical resection of the left kidney and left hemicolon.The pathological diagnosis was primary extraskeletal renal mesenchymal chondrosarcoma. Overall survival was 9 months, with pulmonary metastasis and local recurrence at 6 months. The management of the patient is described, from the initial differential diagnosis, after the first clinical examination to the surgical resection, with a special emphasis on the surgical procedures that were carried out. CONCLUSION: Extraskeletal chondrosarcoma of primary origin in the kidney are extremely rare tumors with a highly malignant potential and very poor prognosis. Because the role of chemotherapy or radiation therapy has not been evaluated properly yet, we underline the importance of surgery in the management of such cases as the main and best approach to achieve clinical remission and long-term survival, provided the patient is referred to a surgical consult in time.

A rare tentorial mesenchymal chondrosarcoma in posterior cranial fossa: case report.

Intracranial extraskeletal mesenchymal chondrosarcoma is a very rare malignant tumor with predilection site of frontoparietal falx cerebri. Only few cases of mesenchymal chondrosarcoma in posterior cranial fossa are reported. Here, we report a 23-year-old young man with a dura-attached mass in left posterior cranial fossa misdiagnosed as a tentorial meningioma preoperatively. According to the following operation, the lesion was confirmed as mesenchymal chondrosarcoma surgically and pathologically. On MRI, the tumor was characterized by lobulated soft-tissue mass with dura-attached base, patchy calcifications and heterogeneous signal intensities. On contrast-enhanced MRI, it was well-defined, with marked enhancement. We consider that these imaging features above might remind us to consider the diagnosis of mesenchymal chondrosarcoma in posterior cranial fossa. The postoperative treatment of radiotherapy is still controversial. As for our case, according to the 24 months follow-up after postoperative γ-knife, our patient shows an optimistic prognosis so far.

Extensive anterior skull-base mesenchymal chondrosarcoma: unusual cause of multiple indolent masses on the forehead.

Primary intracranial occurrence of an extraskeletal mesenchymal chondrosarcoma (MC) is unusual. The commonly involved sites are the orbit, clivus and temporo-occipital junction. Occurrence of the lesion in the anterior skull-base (ASB) in an infiltrative manner and with extra-calvarial involvement, is anecdotal. We report the case of a 35-year-old woman who presented with two indolent swellings on the forehead for a duration of 1 year. Examination revealed impaired visual acuity and complete external ophthalmoplegia in the right eye and 5 × 6 cm and 2 × 3 cm sized hard masses on the forehead. CT and MRI revealed a large, intensely enhancing ASB mass with extensions into the right orbit, ethmoid sinus, nasal cavity, and anteriorly, into the subcutaneous tissue of the frontal scalp through erosions in the bone. At surgery via a right frontal recraniotomy, the lesion was found to be firm and very vascular. Owing to its extreme vascularity, decompression was limited to excision of the intracranial and extra-calvarial components of the lesion. Histopathology was consistent with the diagnosis of MC. The patient was advised a second stage surgery for excision of the residual lesion. She, however, opted for radiation therapy and was lost to follow-up. This report, with one of the most extensive ASB MCs described to date, adds to the list of rare differentials of indolent forehead masses in the diagnostic armamentarium of the neuropathologist.