Neurofibrosarcoma

Primary MPNST of the oculomotor nerve represents an exceptionally rare and surgically challenging entity. In selected deep cranial nerve-related lesions complicated by reflex-mediated instability, tubular port-assisted biopsy with endoscopic guidance may constitute a safe and effective diagnostic escalation strategy.

Patient 1: a 13-year-old boy developed a lumbogluteal nodule despite prior selumetinib...When feasible, complete excision is preferred; unresectable lesions need closer imaging. Early recognition widens cure opportunities and may refine risk stratification.

The presence of intralesional necrosis, perilesional enhancement, and edema; higher T2 heterogeneity; large diameter (>10.5 cm) and average diameter (8.3 cm); and a lower ADCmin (<0.7 × 10-³ mm²/s) are associated with high-grade MPNST in people with NF1. As efforts continue to more precisely define transitional tumors molecularly, histologically, and clinically versus high-grade MPNST, these data contribute to the MRI diagnostic distinctions.

P2, N=818, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: May 2026 --> May 2027 | Trial primary completion date: May 2026 --> May 2027

Collectively, genomic alterations detected by clinical NGS panels provide potential new biomarkers for risk stratification that can be integrated with conventional parameters to provide improved prognostication and guide therapeutic strategies.

In individual cases, dental findings can provide clues for estimating the timing of the interaction between PNF and hard tissues which can apparently date back to the prenatal phase. The skeletal findings can already be identified on plain radiographs of the skull.

Additionally, loss of H3K27me3 was associated with even lower densities of CD3+ T-cells and CD163+ macrophages in MPNSTs, and the loss of p16 seemed to act synergistically. Taken together, these findings suggest that an immune response involving both T-lymphocytes and macrophages may play a role in controlling or delaying the malignant transformation of ANF/ANNUBPs into MPNSTs and point to IC molecules as novel immunopreventive strategies in NF1 patients with ANF/ANNUBPs.

Despite subtotal resection and pazopanib therapy, the disease progressed and the patient died at 14 years of age. This case highlights persistent functional morbidity and later malignant progression during the long-term course of NF1-associated pelvic disease.

P2, N=54, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Apr 2026 --> Apr 2027

P1, N=68, Active, not recruiting, Seattle Children's Hospital | Trial primary completion date: Dec 2025 --> Dec 2040

The dog improved rapidly, and at 12- and 24-month follow-ups showed no recurrence or metastasis. This case demonstrates an atypical anatomical and histopathological presentation of canine EMPNST and shows that complete limb-sparing partial neurectomy can achieve long-term remission without compromising limb function.

No adjuvant targeted therapy was administered, and no recurrence was observed during the six-month follow-up. This case highlights the coexistence of NF1 and MPNST, aiming to enhance clinical awareness of the malignant transformation risks in NF1, thereby promoting earlier diagnosis and minimizing the potential for misdiagnosis and delayed intervention.