High IGF2 and FGFR3 are associated with tumour progression in undifferentiated pleomorphic sarcomas, but EGFR and FGFR3 mutations are a rare event.

Aim: Pleomorphic undifferentiated sarcomas (formerly known as malignant fibrous histiocytomas) are recognised by the actual WHO classification as an undifferentiated, unclassifiable category of pleomorphic sarcomas which show no definable line of differentiation and are still a diagnosis of exclusion. Therefore, diagnostic, prognostic and therapeutic options of these tumours are urgently needed.

Methods: Three hundred and twenty-seven spindle cell tumours of a German consultation and reference centre of soft tissue tumours consisting of 200 undifferentiated pleomorphic sarcomas (UPS), 45 low-grade sarcomas (10 low-grade fibromyxoid sarcomas, 32 low-grade myofibroblastic sarcomas and three myxoinflammatory fibroblastic sarcomas) and 82 tumours of the fasciitis family were revisited.

Loss of CD34 and high IGF2 are associated with malignant transformation in solitary fibrous tumors.

The aim of this study was to characterize the subgroups of solitary fibrous tumor (SFT) and to investigate the expression of different biomarkers including CD34 and IGF2 in malignant transformation. Two hundred and ninety-four (294) SFTs from a single German consultation center of soft tissue tumors were categorized into the new proposal of SFT designation. We found the fibrous variant in 223 (75.

Mammalian target of rapamycin pathway activity in alveolar soft part sarcoma.

Alveolar soft part sarcoma (ASPS) is a distinct type of soft tissue sarcoma holding a specific ASPL-TFE3 fusion transcript. Curative therapy is based on surgical removal, whereas lately, antiangiogenic targeted therapy regimens have proven effective. In ASPS, analysis of small series additionally display mTOR (mammalian target of rapamycin) pathway activity, thus making mTOR a possible additive target in ASPS, because it is in other tumor entities.

Identification of biomarkers to distinguish clear cell sarcoma from malignant melanoma.

Clear cell sarcoma is a rare and malignant soft tissue tumor that shows phenotypic and immunohistochemical overlap with cutaneous malignant melanoma; identification of biomarkers that differentiate clear cell sarcoma from malignant melanoma is therefore needed. In this study, we performed mutation analysis of BRAF and NRAS, investigated the EWSR1 gene rearrangement and evaluated the protein expression of insulin-like growth factor 2 and insulin-like growth factor 1R in 31 cases of malignant melanoma and 16 cases of clear cell sarcoma. By direct sequencing and high-resolution melting analysis, we identified BRAF and NRAS mutations in 51.

Molecular cytogenetic characterization of epithelioid hemangioendothelioma.

Epithelioid hemangioendothelioma (EHE) is a rare vascular tumor whose pathological diagnosis can be difficult. In the literature two cases of EHE were found to harbor a balanced t(1;3)(p36.3;q25) translocation, suggesting a characteristic chromosomal rearrangement as cause for the development of EHE.

Thoracic neoplasms at the Jena reference center for soft tissue tumors.

Introduction: The Jena Soft Tissue Tumor Reference Center is the major German pathology institute for consultation of malignant mesenchymal tumors. Here, we present the clinicopathological data on thoracic soft tissue tumors of a two-year period.

Methods: The tumors were analyzed according to their localization, type (soft tissue tumor, other tumor type, non-neoplastic lesion) and biological behavior.

An unusual case of a synovial sarcoma of the parotid gland in an elderly patient.

Synovial sarcoma is a malignant soft tissue neoplasm which mostly occurs in adolescents and young adults. The tumor is rare in the head and neck region although it has been described at virtually every anatomic site. Synovial sarcoma can mimic benign lesions clinically and histologically and is therefore sometimes difficult to diagnose.

[Update from the soft tissue tumour registry in Jena].

The Jena Institute of Pathology has been serving as a consultation and reference center for soft tissue tumors in Germany since 1978. The present study provides an overview of the clinicopathological data from a two-year period and an update on diagnostics and research. Retrospectively, 7043 cases sent to the institute in the years 2006 and 2007 were analyzed.

[Histological classification of soft tissue tumors and staging according to the TNM system].

The classification of soft tissue tumors is based on their resemblance to normal non-neoplastic tissues and provides an indication of how the tumor will behave in the further disease course. The current article presents the principles to be considered when classifying tumors into categories and discusses additional findings to be taken into account in the diagnosis. The importance of considering combinations of findings when classifying a tumor is underscored; individual (in particular immunohistochemical) findings can be misleading.

TLE1 is a robust diagnostic biomarker for synovial sarcomas and correlates with t(X;18): analysis of 319 cases.

Introduction: Genomewide expression profiling has identified a number of genes expressed at higher levels in synovial sarcoma than in other sarcomas. Our objectives in this study were (1) to test whether the differentially expressed gene, Transducin-Like Enhancer of split (TLE1) belonging to the groucho/TLE family, is also distinct on the protein level; (2) to evaluate this biomarker in a series of well-characterised synovial sarcomas on standard, full-sized tissue sections and (3) to correlate the expression of TLE1 with t(X;18) and other established biomarkers.

Methods: Three-hundred and eighty four spindle cell sarcomas from the German consultation and reference centre of soft tissue tumours initially suspected for synovial sarcoma were revisited.

[Solitary fibrous tumor and haemangiopericytoma: what is new?].

Soft-tissue tumors with haemangiopericytoma (HPC)-like growth patterns can now be divided into three categories: (1) The solitary fibrous tumour (SFT) group with its variants; (2) lesions showing clear evidence of myoid/pericytic differentiation and corresponding to "true" HPCs (myopericytoma/glomangiopericytoma and a subset of sinonasal HPCs); (3) neoplasms that occasionally display HPC-like features (e.g. synovial sarcoma).

MYC high level gene amplification is a distinctive feature of angiosarcomas after irradiation or chronic lymphedema.

Angiosarcomas (AS) are rare vascular malignancies that arise either de novo as primary tumors or secondary to irradiation or chronic lymphedema. The cytogenetics of angiosarcomas are poorly characterized. We applied array-comparative genomic hybridization as a screening method to identify recurrent alterations in 22 cases.

Lymphangioleiomyomatosis: solitary abdominal manifestation (2009: 9b).

Lymphangioleiomyomatosis (LAM) is a rare disease that usually affects premenopausal woman and is characterized by cystic lung lesions and lymphatic disorders. We report a case of a 23-year-old woman who presented with diffuse, but increasing abdominal pain. Transabdominal ultrasound showed multiple cystic formations.

Soft tissue tumors: new perspectives on classification and diagnosis.

Background: In recent years, new tumor entities have been described and previously known tumor types have undergone a reassessment. This article offers an overview of recent developments in the classification and interpretation of soft tissue tumors.

Methods: Selective review of publications from 1990 until 2008 from the literature database of the Consultation and Referral Center for Soft Tissue Tumors in Jena.

Hemangioma of the mandible: case report with special emphasis on bone degradation.

Purpose: Intraosseous hemangioma of the mandible is a rare tumor. In this report, we present a case with a particularly prominent osteolysis and discuss the histological features of bone degradation.

Materials And Methods: We describe a 64-year-old female patient with a cystic tumor mass of the mandible leading to pathologic bone fracture.

[Modern morphological diagnosis and current classification of soft tissue sarcomas].

Malignant soft tissue tumors are somewhat rare, and thus sufficient experience in diagnostics and therapy of these sarcomas is available as a rule only at specialist centers. The gold standard of morphological diagnosis is still represented by evaluation of HE-stained histological sections. However modern methods of examination are also helpful in diagnosis.

Recurrence of a laryngeal spindle cell sarcoma with a transformation into a higher grade of malignancy.

Primary malignant mesenchymal neoplasms of the larynx are rare. Sarcomas of the larynx account for <1% of all malignant laryngeal mesenchymal neoplasms. This report examines a case of a recurring laryngeal, initial benign-appearing mesenchymal tumour, which first changed its clinical phenotype without any histological signs of malignancy and later also its histological appearance with signs of malignancy.

Melanocytic schwannoma of the cutaneous and subcutaneous tissues: three cases and a review of the literature.

Melanocytic schwannoma is a rare soft-tissue tumor, which arises most commonly in the paraspinal sympathetic chain. In general, 25% of the patients develop metastasis. To date, only 17 cases of a cutaneous and subcutaneous melanocytic schwannoma have been reported.

[Gastrointestinal stromal tumors. Diagnosis and estimating aggressiveness].

A diagnosis of gastrointestinal stromal tumor must be considered if a mesenchymal tumor is localized in the gastrointestinal tract, especially in the stomach. In daily practice diagnosis is based on the histology (cellular features and histologic architecture) and immunohistochemistry (cellular positivity with antibodies to CD117 and often to CD34). Expression of CD117 indicates the autoactivation of a type-III-receptor tyrosine kinase mediated by mutation of the KIT gene.

[Problematic zones in the classification of soft tissue tumors].

The classification of soft tissue tumors is based on the recognition of the resemblance to normal tissue or cells. Nowadays, molecular pathologic findings essentially may contribute to the diagnosis. In daily practice, however, the evaluation of HE sections and immunohistochemical findings are most important because these methods are widely available.

Hibernoma-like brown fat in the bone marrow: report of a unique case.

We report on a bone-marrow biopsy of a 61-year-old female patient that was performed because of the clinical suspicion of a myeloproliferative disease. The trephine biopsy showed morphological features that were consistent with an essential thrombocythaemia (ET). The diagnosis of a myeloproliferative disease could be corroborated by demonstration of the V617F mutation of JAK2.

[Primary liposarcoma of the liver--a rare mesenchymal tumor].

Primary sarcoms of the liver are rare. Most often angiosarcomas have been reported. Primary liposarcoma of the liver is extremely rare.

D2-40 labeling in lymphangiomyoma/lymphangiomyomatosis of the soft tissue: further evidence of lymphangiogenic tumor histogenesis.

We examined ten cases of extrapulmonary lymphangioleiomyoma/lymphangioleiomyomatosis (LAM; all patients female; median age 46.5 years) for immunohistochemical labeling with a monoclonal antibody against podoplanin (D2-40), which is specific for lymphatic endothelial lining. We found positive staining in thin-wall branching vessels reflecting the lymphatic nature of tumor vessels in all cases tested.