Neurofibrosarcoma

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.

We present a novel genetically engineered mouse model that faithfully recapitulates human PRC2-loss MPNST, enabling mechanistic and preclinical studies of malignant transformation in the context of PRC2 loss.

P1, N=44, Active, not recruiting, Seattle Children's Hospital | Recruiting --> Active, not recruiting | Trial primary completion date: Jun 2025 --> Jun 2040

Among 82 participants, the assay achieved an AUC of 0.904, compared with 0.735 for genome‑wide CNAs. We also detected recurrent disease‑specific driver alterations, relapse up to three months before diagnosis, and early clearance consistent with durable remission.

The choice of tissue used for analytical validation is important and warrants further evaluation and guidance. Establishing an optimal balance between analytical sensitivity and analytical specificity during protocol optimization is key.

MPNSTs, although rare in schwannomatosis, can arise even in the absence of prior radiation exposure and may mimic benign schwannomas. A preliminary risk stratification tool may aid in identifying high-risk patients and optimizing treatment approaches, although validation is needed. Given the aggressive nature of MPNSTs and their potential for delayed diagnosis due to their rarity, vigilant monitoring and individualized treatment strategies are crucial. Future research should focus on refining risk prediction models and exploring targeted therapies for schwannomatosis-associated MPNSTs to improve patient outcomes.

This case series highlights that MPNSTs, although uncommon, can arise in NF2- and SMARCB1-related schwannomatosis without prior radiation exposure, presenting significant diagnostic challenges due to their similarity to benign schwannomas. The findings underscore the importance of maintaining clinical vigilance and employing individualized management strategies, balancing thorough resection with the preservation of function and patient quality of life.

Finally, a proof-of-concept drug screen aimed at reducing Sox9 expression in tumor cells identified 12 FDA-approved drugs. Notably, several of these agents target the RAS signaling cascade, suggesting that multi-targeted inhibition of this pathway may represent a promising therapeutic strategy against MPNSTs.