Neurofibrosarcoma

Due to the lesion's inoperable location and risk of vascular and biliary compression, targeted therapy with the MEK inhibitor selumetinib was indicated. The patient is currently awaiting provision of the medication. This case underscores the importance of careful monitoring and early initiation of targeted therapy in NF1 patients with extensive plexiform neurofibromas, particularly those caused by large NF1 gene deletions, which result in complete loss of neurofibromin and extensive infiltrative benign tumor growth.

The findings in this systematic review and meta-analysis of 36 studies indicates that patients with nfMPNST have a worse survival compared to sMPNST.

Despite overlapping pathological features, uterine and gastrointestinal stromal tumors differ clinically. Surgery is the primary treatment; comprehensive preoperative imaging and postoperative pathological examination are critical to prevent misdiagnosis and optimize management.

Here, we describe two patients with EWSR1::PATZ1 sarcoma, of which one patient was initially misdiagnosed as synovial sarcoma and RMS on two occasions. These patients underscore the diagnostic challenges and therapeutic uncertainties surrounding EWSR1::PATZ1 fusion sarcomas, emphasizing the need for further large collaborative studies to establish optimal prognostic implications and management strategies for this rare entity.

Furthermore, we use the 3D NC spheroid models to discover drugs targeting MPNSTs through high-throughput screening of epigenetic compounds. Poly(ADP-ribose) polymerase inhibitors (PARPi) exhibit selective efficacy in PRC2-deficient NC spheroids and Olaparib-Selumetinib combination is well tolerated and significantly suppresses tumor growth in a human MPNST PDX mouse model.

P2/3, N=140, Completed, National Cancer Institute (NCI) | Active, not recruiting --> Completed | Trial completion date: Dec 2026 --> Mar 2026

P1/2, N=17, Not yet recruiting, Ankit Mangla, MD | Initiation date: Apr 2026 --> Aug 2026

In conclusion, PATZ1 IHC is moderately sensitive and specific for PATZ1-rearranged sarcomas, and it may be a helpful diagnostic marker for this challenging tumor. While most tumors with morphologic overlap with PATZ1-rearranged sarcomas are negative for PATZ1 by IHC, expression in a subset of myoepithelial tumors and rhabdomyosarcomas represents a potential diagnostic pitfall.

Early detection of pathogenic mutations, appropriate surgical intervention, and long-term follow-up are essential to reduce complications. Multidisciplinary care and emerging targeted therapies, such as MEK inhibitors, may further improve management and prognosis for patients with complex NF1 manifestations.

This case highlights diagnostic pitfalls in cytokeratin-positive pleomorphic chest-wall tumors and the limitations of core biopsy. En bloc resection with rigid reconstruction is feasible, while positive margin status warrants multidisciplinary consideration of adjuvant local therapy and structured surveillance.

Despite palliative chemotherapy (cyclophosphamide and vincristine), the patient experienced rapid tumor recurrence and progressive clinical deterioration, culminating in death three weeks post-intervention. In resource-limited settings, where advanced molecular diagnostics are scarce, maintaining a high index of clinical suspicion and ensuring multidisciplinary management are paramount. Early histopathological confirmation is critical to addressing the rapid progression and therapeutic resistance characteristic of this malignancy.

Definitive diagnosis was achieved following wide surgical excision, with histopathological and immunohistochemical analysis confirming MM (strongly positive for S100, Melan-A, and SOX10). This case highlights that MM must be considered in the differential diagnosis of atypical cystic soft tissue lesions, even in anatomically unexpected locations, especially in patients with predisposing conditions such as NF-1 and affirms the indispensable integration of multimodality imaging with histopathological and immunohistochemical correlation in resolving diagnostically challenging soft tissue masses.