The Role of Methylation Analysis in Distinguishing Cellular Myxoma from Low-Grade Myxofibrosarcoma.

Cellular myxoma is a benign soft tissue tumor frequently associated with mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to identify the undescribed methylation profile of cellular myxoma and compare it to myxofibrosarcoma. We performed molecular analysis on twenty cellular myxomas and nine myxofibrosarcomas and analyzed the results using the methylation-based DKFZ sarcoma classifier.

Artificial Bone Graft Substitutes for Curettage of Benign and Low-Grade Malignant Bone Tumors: Clinical and Radiological Experience with Cerasorb.

Background: Artificial bone graft substitutes (ABGS) for curettage of bone tumors are becoming increasingly popular. The aim of this retrospective analysis was to determine the efficacy of the ABGS Cerasorb (Curasan-AG, Kleinostheim, Germany), a beta-tricalcium phosphate (beta-TCP), concerning resorption profile, bone healing, and remodeling after surgery and to evaluate potential complications.

Methods: Forty-three patients suffering from benign and low-grade malignant bone tumors were treated with curettage and refilling of the bony cavity using the ABGS Cerasorb between 2018 and 2021 and included in the final analysis.

Clinical and functional outcome after partial or total claviculectomy without reconstruction for oncologic causes.

Background: To achieve clear margins in rare malignant clavicular neoplasms, claviculectomy may become necessary. This study aimed to review clinical, functional, and oncologic outcomes following partial or total claviculectomy without reconstruction.

Methods: This study retrospectively included 15 patients from 2 tertiary sarcoma centers (mean age, 42.

Prognostic Impact of Pulmonary Metastasectomy in Bone Sarcoma Patients: A Retrospective, Single-Centre Study.

This retrospective study aimed at analyzing the impact of metastasectomy on post-metastasis survival (PMS) in bone sarcoma patients with lung metastases. Altogether, 47 bone sarcoma patients (24 males, median age at diagnosis of lung metastases: 21.8 (IQR: 15.

Targeting epigenetic features in clear cell sarcomas based on patient-derived cell lines.

Background: Clear cell sarcomas (CCSs) are translocated aggressive malignancies, most commonly affecting young adults with a high incidence of metastases and a poor prognosis. Research into the disease is more feasible when adequate models are available. By establishing CCS cell lines from a primary and metastatic lesion and isolating healthy fibroblasts from the same patient, the in vivo process is accurately reflected and aspects of clinical multistep carcinogenesis recapitulated.

Implementation of Copy Number Variations-Based Diagnostics in Morphologically Challenging Neoplasms of the Bone and Soft Tissue.

In the last decade, new tumor entities have been described, including -rearranged neoplasms of different biologic behavior. To gain further insights into the behavior of these tumors, we analyzed a spectrum of -rearranged neoplasms and discuss their key diagnostic and molecular features in relation to their prognosis. We report five patients with -rearranged neoplasms, including one simple bone cyst (SBC), two complex cystic bone lesions lacking morphological characteristics of SBC, and two sarcomas.

Musculoskeletal tuberculosis revisited: bone and joint tuberculosis in Austria.

Background: To prevent further spread of the disease and secondary deformity, musculoskeletal tuberculosis (TB) remains a challenge in terms of early diagnosis and treatment. This study gives an overview on TB trends in Austria (pulmonary and extrapulmonary TB) (A) and analyses a retrospective series of musculoskeletal TB cases diagnosed and treated at an Austrian tertiary centre (B).

Methods: (A) We analysed data obtained from the Austrian national TB registry to provide information on TB patients´ demographics and manifestation sites between 1995 and 2019.

Survival Prediction in Patients Treated Surgically for Metastases of the Appendicular Skeleton-An External Validation of 2013-SPRING Model.

Introduction: The aim of this study was to externally validate the 2013-SPRING model, a survival prediction tool for patients treated surgically for bone metastases in a retrospective patient cohort from a single institution. Moreover, subgroup analyses on patients treated with (A) endoprostheses or (B) osteosynthesis, as well as (C) upper limb and (D) lower limb metastases, were performed.

Methods: Altogether, 303 cancer patients (mean age: 67.

Drug combination screening as a translational approach toward an improved drug therapy for chordoma.

Purpose: Drug screening programmes have revealed epidermal growth factor receptor inhibitors (EGFRs) as promising therapeutics for chordoma, an orphan malignant bone tumour, in the absence of a known genetic driver. Concurrently, the irreversible EGFR afatinib (Giotrif®) is being evaluated in a multicentric Phase II trial. As tyrosine kinase inhibitor (TKI) monotherapies are invariably followed by resistance, we aimed to evaluate potential therapeutic combinations with EGFRs.

Molecular profiling of soft-tissue sarcomas with FoundationOne Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Background: Molecular diagnosis has become an established tool in the characterisation of adult soft-tissue sarcomas (STS). FoundationOne Heme analyses somatic gene alterations in sarcomas DNA and RNA-hotspot sequencing of tumour-associated genes.

Methods: We evaluated FoundationOne Heme testing in 81 localised STS including 35 translocation-associated and 46 complex-karyotyped cases from a single institution.

T-regulatory cells predict clinical outcome in soft tissue sarcoma patients: a clinico-pathological study.

Background: Soft tissue sarcomas (STS) are generally considered non-immunogenic, although specific subtypes respond to immunotherapy. Antitumour response within the tumour microenvironment relies on a balance between inhibitory and activating signals for tumour-infiltrating lymphocytes (TILs). This study analysed TILs and immune checkpoint molecules in STS, and assessed their prognostic impact regarding local recurrence (LR), distant metastasis (DM), and overall survival (OS).

Higher cMET dependence of sacral compared to clival chordoma cells: contributing to a better understanding of cMET in chordoma.

Chordomas are rare slow growing, malignant bone tumors of the axial skeleton with no approved medical treatment. As the majority of chordomas express cMET and its ligand, HGF, and crosstalks between EGFR and MET-signaling exist, we aimed to explore cMET activity in chordoma cell lines and clinical samples. We investigated nine chordoma patients and four chordoma cell lines for cMET expression.

Influence of tumor-infiltrating immune cells on local control rate, distant metastasis, and survival in patients with soft tissue sarcoma.

Soft tissue sarcomas (STS) are considered non-immunogenic, although distinct entities respond to anti-tumor agents targeting the tumor microenvironment. This study's aims were to investigate relationships between tumor-infiltrating immune cells and patient/tumor-related factors, and assess their prognostic value for local recurrence (LR), distant metastasis (DM), and overall survival (OS). One-hundred-eighty-eight STS-patients (87 females [46.

Broadening the spectrum of NTRK rearranged mesenchymal tumors and usefulness of pan-TRK immunohistochemistry for identification of NTRK fusions.

Fusions involving NTRK1, NTRK2, and NTRK3 are oncogenic drivers occurring in a spectrum of mesenchymal neoplasms ranging from benign to highly malignant tumors. To gain further insights into the staining profile with the pan-TRK assay, we analyzed a large number of soft tissue sarcomas and correlated our findings with molecular testing. Additionally, we expand the spectrum of NTRK-fusion tumors by reporting a mesenchymal lesion in the lung as well as a mesenchymal skin lesion in the spectrum of benign fibrous histiocytoma with NTRK-fusion.

[Chordoma: is there a molecular basis for diagnosis and treatment?].

Chordomas are malignant bone tumours with a reported annual incidence of 0.08 per 100,000 cases. They show a notochordal differentiation and are characterised by their nuclear expression of brachyury (TBXT).

Epiphyseal hyperplasia caused by an ectopic ossification center of the distal tibia: presentation of a pediatric case with 13 years of radiological surveillance.

Herein, we report the case of a 4-year-old boy, who presented with a cortical lytic lesion of his distal tibia. It was located eccentrically, measured 2 cm in its craniocaudal diameter, and was associated with a lamella-like soft-tissue mineralization that resembled a periosteal reaction. Thus, the lesion's radiographic features were initially suggestive of an aggressive disease.

EGFR inhibitors identified as a potential treatment for chordoma in a focused compound screen.

Chordoma is a rare malignant bone tumour with a poor prognosis and limited therapeutic options. We undertook a focused compound screen (FCS) against 1097 compounds on three well-characterized chordoma cell lines; 154 compounds were selected from the single concentration screen (1 µm), based on their growth-inhibitory effect. Their half-maximal effective concentration (EC50 ) values were determined in chordoma cells and normal fibroblasts.

Mutation Analysis of Nine Chordoma Specimens by Targeted Next-Generation Cancer Panel Sequencing.

Background: Chordoma is a rare primary malignant bone tumour. Treatment options are mainly restricted to surgical excision, since chordomas are largely resistant to conventional ionising radiation and chemotherapy. Thus, there is a strong need to gain more thorough insights into the molecular biology and genetics of chordoma to allow for the development of new therapeutic options.

Examination of survivin expression in 50 chordoma specimens--A histological and in vitro study.

Chordomas mainly arise along the axial skeleton and are characterized by their slow but destructive growth. Prognosis and quality of life are poor because treatment options are mainly limited to surgery and radiotherapy. Survivin, a member of the apoptosis inhibitor protein family, functions as a key regulator of mitosis and programmed cell death, and is overexpressed in many tumor types.

Tumour-to-tumour metastasis: male breast carcinoma metastasis arising in an extrapleural solitary fibrous tumour - a case report.

Background: Tumour-to-tumour metastasis (TTM) occurs when one tumour metastasises to a separate tumour within the same individual. TTM is observed frequently in breast cancer but has not been described in male breast cancer. In addition reports describing solitary fibrous tumours (SFT) of the pleura hosting other neoplasms' metastases are limited.

Distinct H3F3A and H3F3B driver mutations define chondroblastoma and giant cell tumor of bone.

It is recognized that some mutated cancer genes contribute to the development of many cancer types, whereas others are cancer type specific. For genes that are mutated in multiple cancer classes, mutations are usually similar in the different affected cancer types. Here, however, we report exquisite tumor type specificity for different histone H3.