Neurofibrosarcoma

This study provides the first comprehensive analysis of clinical phenotypes in Chinese patients with NF1. The identification of distinct NF1 subtypes, phenotypic correlations, and ethnic differences supports more personalized management strategies for NF1 patients.

P2, N=41, Not yet recruiting, University of Alabama at Birmingham | Trial completion date: Dec 2031 --> May 2032 | Trial primary completion date: Dec 2030 --> May 2031

This study demonstrates GFPT2's diagnostic utility in MESO, effectively overcoming tumour heterogeneity challenges. It distinguishes malignant mesothelial lesions from benign/borderline ones (RMH/WDPMT), differentiates epithelioid MESO from epithelioid malignances(NSCLC/HGSOC/EHE) and aids in sarcomatoid MESO versus spindle cell tumours (SFT/AF/SS/LMS/MPNST/sarcomatoid carcinoma), though limited for DDLPS. In summary, GFPT2 is a promising novel antibody demonstrating 85.2% sensitivity and 94.7% specificity.

This case highlights the importance of early recognition of MPNST in NF1 patients presenting with new neurological symptoms. It also underscores the value of careful neurological examination and electrophysiological studies in accurately localizing the responsible lesion.

The development of new agents for MPNST treatment has shifted away from solely targeting RAS pathway gene products to stimulating the immune system and manipulating other MPNST driver mutations such as CDKN2A/B, SUZ12, EED, and TP53. This review presents recent advances in the treatment of sarcomas and the future of drug development targeting MPNSTs.

Novel therapeutic strategies, including AAV-based gene therapy aimed at restoring NF1 function, oncolytic herpes simplex virus (oHSV) therapy targeting RAS-dysregulated tumor cells, and chimeric antigen receptor T cell (CAR-T) therapy targeting NF1-associated tumors, are under active investigation. In this review, we explore the genetic mechanisms underlying NF1 and highlight recent advances in therapeutic development with a special focus on AAV-based gene therapies alongside other approaches with recent clinical and translational advancements.

This case underscores the importance of recognizing distinct features of malignant extrarenal rhabdoid tumor to ensure accurate diagnosis and early intervention, as the disease remains aggressive with a high risk of recurrence despite multimodal therapy.

While degenerative changes within neurofibromas are typically benign, they may obscure early malignant transformation, complicating diagnosis. These findings underscore the need for continued surveillance of recurrent neurofibromas and further research into MPNST pathogenesis in non-NF1 populations.

The identification of patients with NF1 and their interittent follow-up are important for the early detection of potential complications, especially tumorigenesis. This review aimed to summarize NF1-associated tumors in pediatric patients and recently developed targeted therapies for treating these tumors.

RECQL4 knockdown in glioma and MPNST cell lines resulted in increased apoptosis and susceptibility to ATR-inhibitors. Our findings show that RECQL4 expression has divergent patterns across tumor types and that targeting RECQL4 may dampen tumor survival and enhance susceptibility to ATR inhibitor therapy in CNS tumors.

We described the clinical features, treatment, and clinical outcomes of 5 cases of MPNST, including one case of MPNST with NF1 gene mutation. This provides valuable clinical experience for the treatment of this rare tumor.

Pulmonary sarcomatoid carcinoma requires immediate and optimal therapeutic intervention because of its aggressive nature and narrow therapeutic window. In health care systems with limited access to immunotherapy, emphasis must be placed on achieving complete surgical resection and intensive postoperative surveillance. This case highlights the need for health care policy discussions regarding expanded access to immunotherapy for patients with favourable biomarker profiles, as current restrictions may significantly impact outcomes in this devastating disease.