Myxoid chondrosarcoma of the scrotum: a case report and review of the literature

Extraskeletal myxoid chondrosarcomas are relatively rare soft tissue malignant tumours, most commonly located in the extremities. Their occurrence in the genitourinary tract is extremely rare. We present a clinical case report of an extraskeletal myxoid chondrosarcoma originating in the scrotum.     

Extraskeletal myxoid chondrosarcoma of the head and neck: a case report

Extraskeletal myxoid chondrosarcomas are rare, soft tissue tumors with a characteristic histologic appearance. The majority of these tumors occur in the extremities. To our knowledge, this is the first reported case in the head and neck. As a group, extraskeletal myxoid chondrosarcomas behave in a less aggressive manner than do other forms of chondrosarcomas, but their clinical course can vary considerably. Surgery is the treatment of choice, and adjuvant radiotherapy or chemotherapy should be considered for cases that display a more cellular pattern and a less conspicuous myxoid matrix.     

Metastatic or multicentric? A report of what we believe to be a case of multicentric extraskeletal mesenchymal chondrosarcoma

Mesenchymal chondrosarcoma represents less than 0.4% of all malignant musculoskeletal tumors. Extraskeletal mesenchymal chondrosarcomas, which have no topographic relationship to a bone, can arise in any tissue such as bladder, muscles, arteries, etc. We report a case of a 25-year-old male with extraskeletal mesenchymal chondrosacomas of the quadriceps muscle and orbit, with rapid progression, cutaneous and bone metastases and lethal exitus within 11 months of the first clinical signs. According to clinical course and immunocytopathological findings, we strongly believe that this report could be a case of extraskeletal mesenchymal chondrosarcoma with a multicentric origin.     

Pleural chondrosarcoma

Thoracic extraskeletal chondrosarcomas are uncommon tumors. A case of primary chondrosarcoma of the pleura is presented. Complete surgical resection without adjuvant therapy, even in the presence of pleural seeding, appears to offer a favorable long-term prognosis.     

Extraskeletal chondroma of the foot

Benign extraskeletal chondromas are uncommon lesions with a predilection for the hands and the feet and can exhibit worrisome radiographic and histologic features mimicking chondrosarcomas. The authors present herein the case of a 74-year-old man with a painful mass at the dorsomedial aspect of the left foot. At 34 months after surgery the patient is disease-free with no evidence of recurrence.     

Parathyroid hormone-related Peptide expression in cartilaginous tumors

Parathyroid hormone-related peptide is one of the most important regulators of chondrocyte proliferation. Although cartilaginous neoplasms express different collagens, including Types II and X, the pathogenesis of these tumors has not been elucidated. The current study examined the hypothesis that parathyroid hormone-related peptide is expressed in cartilaginous neoplasms and its level of expression may correlate with the proliferative rate of cartilaginous neoplasms with higher levels in more malignant tumors and lower levels in benign lesions. Two hundred thirty-four biopsy and resection specimens of benign and malignant cartilage tumors from 179 patients were retrieved from surgical pathology archival material and analyzed immunohistochemically using an antibody to human parathyroid hormone-related peptide. Most cartilaginous neoplasms had some level of expression of parathyroid hormone-related peptide, and tumors with a more proliferative phenotype had higher levels of parathyroid hormone-related peptide. Although benign lesions such as enchondromas and osteochondromas had low levels of parathyroid hormone-related peptide, malignant neoplasms such as extraskeletal myxoid chondrosarcomas, dedifferentiated chondrosarcomas, and mesenchymal chondrosarcomas expressed high levels of parathyroid hormone-related peptide. Parathyroid hormone-related peptide expression correlated with grade of malignancy in chondrosarcoma. Although there were highly significant differences between Grade I chondrosarcoma versus Grade II and Grade III lesions, the difference between Grade II and Grade III chondrosarcomas approached significance. Parathyroid hormone-related peptide may represent a new tumor marker with potential diagnostic use in classifying cartilaginous neoplasms.     

Mesenchymal chondrosarcoma originating from the femoral vein

Mesenchymal chondrosarcoma is a rare variant of chondrosarcomas characterized by a bimorphic pattern with areas of the undifferentiated malignant small cells and well differentiated cartilaginous islands.(1) It occurs most commonly in the bone but can also occur in the extraskeletal soft tissues, the brain, and the meninges. This type of tumor has also been described in the eyelids, parapharyngeal space, mediastinum, and the kidney.(1-5) An origin from the large vessels has not been reported in the medical literature. The authors report a case of mesenchymal chondrosarcoma originating from the femoral vein in a 28-year-old female patient, treated by the wide-margin resection.     

The utility of fluorescence in situ hybridization (FISH) in the diagnosis of myxoid soft tissue neoplasms

Diagnosing myxoid soft tissue neoplasms can be challenging because of overlapping histologic features. Distinct chromosomal translocations have been identified in several myxoid sarcomas, including t(12;16)(q13;p11) FUS-DDIT3 in myxoid liposarcoma, t(7;16)(q34;p11) FUS-CREB3L2 in low-grade fibromyxoid sarcoma, and t(9;22)(q31;q12) EWSR1-NR4A3 in extraskeletal myxoid chondrosarcoma. These recurrent chromosomal alterations are attractive targets for diagnostic studies. To that end, dual-color, break-apart fluorescence in situ hybridization (FISH) probes spanning the genomic regions of EWSR1 (22q12), DDIT3 (12q13), and FUS (16p11) (Vysis, Downer's Grove, IL) were evaluated in formalin-fixed, paraffin-embedded tissues from myxoid neoplasms, including intramuscular myxoma (n=10), myxoid liposarcoma (n=18), low-grade fibromyxoid sarcoma (n=10), extraskeletal myxoid chondrosarcoma (n=13), and myxofibrosarcoma (n=8). Of the myxoid liposarcomas, 18/18 cases had a rearrangement of the DDIT3 gene, with 17/18 (94.4%) showing both DDIT3 and FUS gene rearrangements. A FUS gene rearrangement was identified in 7/10 (70%) of low-grade fibromyxoid sarcomas, with no changes involving EWSR1 or DDIT3. An EWSR1 translocation was seen in 6/13 (46.2%) of extraskeletal myxoid chondrosarcomas, without changes in DDIT3 or FUS genes. The remaining neoplasms studied showed no rearrangements involving DDIT3, FUS, or EWSR1 genes. In conclusion, interphase FISH using DDIT3 and FUS probes identifies the characteristic translocation in myxoid liposarcoma. FUS and EWSR1 probes are useful in confirming the diagnosis of low-grade fibromyxoid sarcoma and extraskeletal myxoid chondrosarcoma, respectively. The specificity of the probes is documented as none of the non-translocation-associated myxoid tumors showed genomic abnormalities with the probes tested. FISH is capable of providing specific ancillary information useful in this often difficult differential diagnosis.     

Pathomorphology of malignant chondrogenic bone tumors--an analysis of 94 cases from the Hamburg Bone Tumor Register (1974-1989)]

89 central and 5 periosteal chondrosarcomas identified between 1974-1989 were reviewed in a retrospective study. The purpose of this study was to examine the morphological characteristics of different types of chondrosarcomas and to describe remarkable features of location, age distribution and male to female ratio. We distinguish four types of centrally located chondrosarcoma: classical chondrosarcomas, dedifferentiated chondrosarcomas, mesenchymal chondrosarcomas and clear cell chondrosarcomas. Five periosteal chondrosarcomas were represented. Classical chondrosarcomas as well as clear cell chondrosarcomas indicate a significant predominance of males; no sex predilection in dedifferentiated and mesenchymal chondrosarcomas was seen. Nearly 60% of classical and mesenchymal chondrosarcomas occur in the trunk. 85% of dedifferentiated chondrosarcomas are located in the long bones of the limbs. The most common location of clear cell chondrosarcoma is the proximal part of the femur. There is a marked predilection for mesenchymal chondrosarcomas in the second and third decades of life. The mean age of patients with classical chondrosarcomas was 54 years, but clear cell chondrosarcomas occur 10 years earlier and dedifferentiated chondrosarcomas 10 years later. Characteristically, classical chondrosarcomas produce a pure chondroid matrix with variable differentiation of tumour chondrocytes. The most important histological feature of the dedifferentiated chondrosarcoma is the close association of two different cellular components. One of these consists of cartilage, which is generally well differentiated. In most of our cases the second component showed features of osteosarcoma (50%). Mesenchymal chondrosarcoma is characterized by concentric infiltration of cartilage islands by small tumour cells.(ABSTRACT TRUNCATED AT 250 WORDS)     

Mesenchymal chondrosarcoma of soft tissues of the calf

Mesenchymal chondrosarcomas are distinct from conventional and dedifferentiated chondrosarcomas and are quite rare, making up less than 2% of all chondrosarcomas. We describe a mesenchymal chondrosarcoma of the soft tissues of the calf and review the differential diagnosis of this poorly understood entity.     

INI1-deficient tumors: diagnostic features and molecular genetics

Significant progress has been made in understanding the molecular genetic alterations involved in sarcomagenesis. Cytogenetic and molecular studies have identified nonrandom genetic abnormalities, including tumor suppressor gene inactivation. Mutations, deletions, and other somatic alterations in the tumor suppressor gene INI1 (hSNF5; SMARCB1), which encodes a subunit of the SWI/SNF chromatin remodeling complex, were first described in the malignant rhabdoid tumor of infancy. Since then, INI1 has also been implicated in the pathogenesis of additional tumor types including renal medullary carcinomas and epithelioid sarcomas and a subset of epithelioid malignant peripheral nerve sheath tumors, myoepithelial carcinomas, and extraskeletal myxoid chondrosarcomas. As varied as this group appears, they all show loss of INI1 protein expression, a propensity for rhabdoid cytomorphology, and sometimes other overlapping immunohistochemical and histologic findings. We will review the clinicopathologic features of these tumor types and emphasize the clinical utility of INI1 immunohistochemistry in differential diagnosis.     

成骨细胞相关基因在软骨肉瘤中的表达

目的 通过对软骨肉瘤细胞中成骨细胞相关基因的表达进行分析,探讨软骨肉瘤中细胞分化的分子表型。方法 采用RT-PCR和印记方法半定量测定32例软骨肉瘤患者骨钙素（OC）、碱性磷酸酶（AP）、骨结合蛋白（ON）和Cbfa1的表达,分析其与组织学分级和预后的关系。结果 病理学分级与OC、AP或Cbfa1表达有明显相关性;成骨细胞相关基因在Ⅲ级软骨肉瘤的表达最为多见,骨钙素mRNA表达的检测,在12例Ⅲ级患者有9例可测到（75%）,在20例Ⅰ-Ⅱ级患者中有4例可测到（20%）（P=0.008)。在32例患者中,21个可测到APmRNA,其中12例Ⅲ级患者中有11例（92%）、20例Ⅰ-Ⅱ级患者中有10例（50%）可测到AP的表达（P=0.018)。OC或AP表达常与无病生存率下降相联系（OC：P=0.016;AP:P=0.018).CbfalmRNA只在4例Ⅲ级软骨肉瘤中测到。所有软骨肉瘤中均可测到ON,表明其表达与病理分级及无病生存率无相关性。结论 绝大多数Ⅲ级软骨肉瘤中可测到OC的表达,而在Ⅰ-Ⅱ级软骨肉瘤中只有少数表达,并且OC的表达常与预后差相关联;APmRNA阳性率在Ⅰ-打级和Ⅲ级中有明显的差别,AP的表达也和无病生存率下降呈正相关,在软骨肉瘤中OC或AP的表达可做为独立的预后指标;Cbfa1在分级高的软骨肉瘤中较常表达,表现出与OC有相同的特性。     

Radiosurgery for chordomas and chondrosarcomas of the skull base

OBJECT: Chordomas and chondrosarcomas of the skull base are aggressive and locally destructive tumors with a high tendency for local progression despite treatment. The authors evaluated the effect of stereotactic radiosurgery (SRS) on local tumor control and survival. METHODS: Twenty-eight patients with histologically confirmed chordomas (18) or chondrosarcomas (10) underwent Gamma Knife SRS either as primary or adjuvant treatment. Their ages ranged from 17 to 72 years (median 44 years). The most common presenting symptom was diplopia (26 patients, 93%). In two patients, SRS was the sole treatment. Twenty-six patients underwent between one and five additional surgical procedures. Two underwent an initial transsphenoidal biopsy. The average tumor volume was 9.8 cm3. The median dose to the tumor margin was 16 Gy. RESULTS: No patient was lost to follow-up. Transient symptomatic adverse radiation effects developed in only one patient. The actuarial local tumor control for chondrosarcomas at 5 years was 80 +/- 10.1%. For chordomas both the actuarial tumor control and survival was 62.9 +/- 10.4%. CONCLUSIONS: Stereotactic radiosurgery is an important option for skull base chordomas and chondrosarcomas either as primary or adjunctive treatment. Multimodal management appears crucial to improve tumor control in most patients.     

Extraskeletal osteochondromas of the wrist

Extraskeletal osteochondromas of the wrist are described in two patients. They both had painless, slow-growing wrist masses, one palmar and one dorsal. Radiographs demonstrated the presence of an extraskeletal, radiopaque mass. Excisional biopsy showed extraskeletal, firm, calcified masses. Histologic examination revealed mature hyaline cartilage, with extensive ossification consistent with the diagnosis of extraskeletal osteochondroma. The ambiguous nomenclature for this cartilage lesion and the differential diagnosis of extraskeletal calcification are reviewed.     

Intracranial malignant cartilaginous tumours. Report of two cases and review of literature

Summary We report two cases of basicranial chondrosarcomas. Intracranial chondrosarcomas are particularly rare, amounting to 0.15% of all intracranial tumours. Their most frequent location is the skull base (76.19%), and more precisely the middle cranial fossa, as they arise from the spheno-occipital synchondrosis. Some intracerebral chondrosarcomas have also been reported.We also refer shortly to another kind of malignant cartilaginous neoplasm that was recently identified by Lichtenstein and Bernstein (1959). This is the mesenchymal chondrosarcoma. Fifteen cases of this have been reported.     

Meningeal chondrosarcomas, a review of 31 patients

We reviewed the literature to study the clinical features, the management and the outcome of meningeal chondrosarcomas. We included 31 patients in this review: 22 were mesenchymal and nine were non-mesenchymal. The mean age was 27 years and 64% arose from the cranial meninges. The treatment was mainly total surgical excision. Adjuvant therapy was given to 36% of patients. Spinal meningeal chondrosarcomas had a better prognosis (81% 1-year survival and 45% 3-year survival). There were no pathognomonic clinical or radiological features. We concluded that the best management of meningeal chondrosarcomas is total surgical excision whenever possible, followed by combined course of radiotherapy and chemotherapy as soon as possible.     

Extraskeletal chondroma with bony destruction

Summary In the hand, the extraskeletal chondroma is a very rare soft tissue tumor. The diagnostic criteria for distinguishing this tumor are that it is extraskeletal, and that the cortical bone and/or medullary cavity are not involved. A case of an extraskeletal chondroma is presented; it manifested histological features that differed from previously reported cases, and this finally resulted in causing bony destruction.     

Vascularized fibular graft after excision of giant cell tumor of the distal radius. A case report

Although hemiarthroplasty of the wrist using vascularized proximal fibula has been described often, long term results with documentation of results are insufficient. A case of giant cell tumor of the distal radius with remarkable extraskeletal extension is reported. Vascularized fibula including its proximal head was used to replace the defect created after en bloc resection of the tumor. There was no deterioration in radiographic findings or function of the new joint at the time of the 10-year followup. Satisfactory range of motion of the wrist and the forearm was maintained. There was no instability in the joint, and grip strength measured 65% of the opposite side. Postoperative magnetic resonance imaging showed survival of the whole graft, including the subchondral portion. In addition to thorough revascularization of the graft, appropriate soft tissue reconstruction using dynamic tendon transfer contributed to the success. When these requirements are fulfilled, the graft can provide a functional and durable result. Although this is a single experience, the authors recommend wrist arthroplasty, rather than arthrodesis, in carefully selected patients.