Desmoplastic small round cell tumors (DSRCT) are exceptionally rare and aggressive sarcomas with limited therapeutic options and scarce clinical evidence. We aimed to characterize the clinical course and treatment of patients with molecularly confirmed DSRCT and to investigate HER2 expression as a potential therapeutic target, including real-world experience with trastuzumab deruxtecan (T-DXd). We retrospectively analyzed patients with DSRCT treated at our specialized and certified sarcoma center. Diagnosis was confirmed by detection of the pathognomonic EWSR1::WT1 fusion. Clinical characteristics, treatment strategies, surgical outcomes, HER2 immunohistochemistry (IHC), and fluorescence in situ hybridization (FISH) results were assessed. Clinical outcomes of patients receiving T-DXd were reviewed. Eleven patients were identified (median age 22 years, range 5–63; 81.8
The biomedical innovation landscape is increasingly shaped by high-growth startups, particularly “unicorns”—privately held companies valued at over 1 billion. While these entities generate significant economic value and drive digitalization and novel therapeutic development in oncology, their creation and integration into the research ecosystem remain unevenly distributed globally. Notably, Europe lacked a single medical unicorn in oncology before 2026. This study investigates the geographical distribution, financing structures, and investment focus of global oncology unicorns to understand the factors behind their success. It further aims to explore the potential of these entities to contribute to oncology research funding and to identify the critical gaps in the European startup ecosystem that prevent their emergence. We identified 21 oncology unicorns from the CB Insights database with business models clearly linked to oncology. Data on company valuation, financing stages (early, expansion, later), geographical origin, investor composition, and cumulative investment were analyzed. The 21 oncology unicorns represent a cumulative market valuation exceeding50 billion. Geographically, 18 (86
Although most colorectal (CRC) and endometrial cancers (EC) are sporadic, a clinically relevant proportion results from hereditary cancer predisposition syndromes, particularly Lynch syndrome (LS). Next-generation sequencing (NGS) enables comprehensive germline testing; however, optimal diagnostic pathways for clinical practice remain under discussion. A germline NGS panel targeting 12 hereditary cancer predisposition genes (MLH1, MSH2, EPCAM, MSH3, MSH6, PMS2, APC, MUTYH, BMPR1A, SMAD4, STK11, PTEN) was applied to 430 individuals (340 cancer patients, 5 individuals with polyposis without cancer, and 85 unaffected family members) from the Polish (Lower Silesia) population. MLPA analysis was performed in 48 selected cases. Tumour-based data from 183 CRC/EC cases included MMR/MSI status, KRAS/NRAS/BRAF mutations, MLH1 promoter methylation, and POLE analysis in EC. NGS identified germline pathogenic/likely pathogenic variants (PV/LPV) in 32/430 individuals (7.44
Atypical teratoid rhabdoid tumor is a rare, highly aggressive embryonal neoplasm of the central nervous system, and primary spinal presentations in older adolescents are exceptionally uncommon, with very limited comparative data in the literature. We report a 17-year-old male with cauda equina syndrome due to an intradural lumbar lesion initially interpreted radiologically and intraoperatively as myxopapillary ependymoma or schwannoma. Histopathological findings revealed a highly cellular small round blue cell tumor with rhabdoid morphology, high proliferative activity and complete loss of nuclear SMARCB1/INI1 expression. DNA methylation profiling assigned the lesion to the atypical teratoid rhabdoid tumor MYC molecular subgroup with SMARCB1 loss-of-function. The patient received intensive multimodal therapy including craniospinal irradiation and multi-agent chemotherapy. This case highlights the diagnostic value of integrated histopathological and molecular classification in an unusual spinal tumor occurring in an adolescent. In particular, DNA methylation profiling was crucial for confirming the diagnosis and assigning the tumor to the ATRT-MYC subgroup.
Myxopapillary ependymoma (MPE) is an uncommon spinal ependymal tumor that usually arises as a solitary intradural extramedullary (IDEM) lesion in the conus medullaris, cauda equina, or filum terminale. MPE is designated WHO grade 2 since the 2021. Synchronous multifocal spinal MPE at initial presentation is rare and creates uncertainty regarding the extent and timing of surgery. A 34-year-old man with no significant medical history presented with sudden severe non-radicular low-back pain and no neurological deficit. Contrast-enhanced MRI of the brain and entire spine showed multiple enhancing IDEM lesions confined to the lumbosacral region (T12–L1, L2, L3–L4, L4–L5, and S1). The dominant right-sided T12–L1 lesion markedly compressed the conus medullaris/proximal cauda equina. Complete microsurgical resection of this lesion was performed, and histopathology confirmed MPE, WHO grade 2 (Ki-67 ≤ 2–3
