Metastatic potential is determined early in synovial sarcoma development and reflected by tumor molecular features.

Introduction: Synovial sarcoma (SynSa) is an aggressive mesenchymal tumor, comprising approximately 10% of all soft tissue sarcomas. Over half of SynSa patients develop metastasis or local recurrence, but the underlying molecular mechanisms of the aggressive clinical behavior remain poorly characterized.

Materials And Methods: Sixty-four frozen tumor specimens from 54 SynSa patients were subjected to array comparative genomic hybridization (aCGH) and gene expression profiling.

Jaffe-Campanacci syndrome, revisited: detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.

Purpose: "Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1.

Methods: We performed germline NF1, SPRED1, and GNAS1 (exon 8) mutation testing on patients with Jaffe-Campanacci syndrome or Jaffe-Campanacci syndrome-related features.

Recurrent and novel SS18-SSX fusion transcripts in synovial sarcoma: description of three new cases.

Synovial sarcoma (SS) is an aggressive type of tumor, comprising approximately 10 % of soft tissue sarcomas. Over 90 % of SS cases are characterized by the t(X;18)(p11.2;q11.

Perineural spread of endometriosis along the obturator nerve into the adductor thigh compartment.

We report the case of a young woman with recurrent unilateral hip pain. A polylobular cystic mass was found in the right adductor space. Magnetic resonance imaging (MRI) revealed a polynodular mass migrating from the intrapelvic region along the obturator nerve.

Administration of 24-h intravenous infusions of trabectedin in ambulatory patients with mesenchymal tumors via disposable elastomeric pumps: an effective and patient-friendly palliative treatment option.

Background: Patients with progressive mesenchymal tumours after standard chemotherapy have poor outcome. Trabectedin is approved in Europe as 24-h intravenous (i.v.

The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.

Subungual exostosis is a benign bone- and cartilage-forming tumor known to harbor a pathognomonic t(X;6)(q22;q13-14). Using global gene expression analysis and quantitative real-time PCR, we could show that this translocation results in increased expression of the IRS4 gene, presumably due to disruption and/or exchange of regulatory sequences with the translocation partner, the COL12A1 gene. A corresponding deregulation at the protein level could be demonstrated in primary cell cultures using a combination of fluorescence in situ hybridization and immunostaining.

A brown tumor after biliopancreatic diversion for severe obesity.

A case of a brown tumor due to iatrogenic malabsorption following biliopancreatic diversion (BPD) is presented. A 52 year old women with a history of BPD 2 years before was referred to orthopedic surgery because of a painful lytic lesion of the left ankle. A bone biopsy revealed a giant cell tumor compatible with the diagnosis of a brown tumor.

Metastasis from renal cell carcinoma presenting as osteolysis in total hip arthroplasty: a case report.

We report a case of a pelvic metastasis from a renal carcinoma in association with a total hip arthroplasty. Mistakenly diagnosing such lesion as a granulomatous osteolytic foreign body reaction due to polyethylene debris may lead to devastating and uncontrollable haemorrhage during revision arthroplasty.

Postradiation soft tissue sarcoma of the shoulder: a case report.

We present a case of a postradiation soft tissue sarcoma of the shoulder in a patient with a hemiarthroplasty of the shoulder. Initially the patient was treated for an infection of the hemiarthroplasty but subsequent removal of the loose prosthesis and biopsy revealed the presence of a malignant tumour.

Epithelioid hemangioma of bone: a potentially metastasizing tumor?

The case of a 15-year-old boy with a severe swelling of the 2nd toe in the left foot and a large swelling of the left inguinofemoral region is described. Histologic examination of the foot lesion showed a typical epithelioid hemangioma of bone that extended into the soft tissues, with a secondary location in the groin, suggestive of lymph node involvement. Subsequently, imaging also revealed swelling of iliac and para-aortic lymph nodes, which probably indicates further lymph node spread.

Langerhans cell histiocytosis of the cervical spine: a single institution experience in four patients.

When Langerhans cell histiocytosis (LCH) occurs at critical sites, such as in the cervical spine, there is a substantial risk for morbidity. Therefore, reports on clinical experiences with those patients remain important. We summarize the history of four patients with unifocal LCH at the cervical spine.

Correlation between clinicopathological features and karyotype in 100 cartilaginous and chordoid tumours. A report from the Chromosomes and Morphology (CHAMP) Collaborative Study Group.

The evaluation of chondroid lesions requires full integration of clinical, radiographic, and pathological data; tumour typing is often a challenge for the diagnostic pathologist. Although a variety of chromosomal abnormalities have been documented in chondroid lesions, the potential usefulness of cytogenetic analysis remains unclear. This study has critically reviewed and analysed 117 karyotyped samples from 100 patients with cartilaginous and chordoid tumours.