Neurofibrosarcoma

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.

P1/2, N=17, Not yet recruiting, Ankit Mangla, MD

The patient was started on doxorubicin and ifosfamide chemotherapy. This case emphasizes that systematic cutaneous assessment in children with deep, rapidly growing soft tissue masses can be pivotal for identifying NF1, refining the differential diagnosis toward MPNST, and accelerating appropriate staging and multidisciplinary management.

This case underscores that a large, well-circumscribed retroperitoneal peripheral nerve sheath tumor in a young adult may still be malignant. Pathology-driven risk stratification with quantified mitotic activity and Ki-67 is essential for accurate classification and for planning structured post-resection surveillance.

BRaf-mutant aNSPCs display increased Sox2 protein, but not mRNA levels, suggesting post-transcriptional regulation. Sox2 phosphorylation at T118 is promoted by BRafV600E, potentially stabilizing the protein during aNSPC transformation, although the involvement of downstream kinases cannot be excluded.