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An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas

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Published on: October 10, 2025

Anaplastic astroblastoma-sarcoma in neurofibromatosis Type 1.

B W Scheithauer¹, A T Aker, R P Ketterling

¹Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. scheithauer.bernd@mayo.edu

Clinical Neuropathology

|September 24, 2010

Summary

This study reports a rare case of anaplastic astroblastoma-sarcoma in a patient with neurofibromatosis Type I. Genetic analysis revealed shared chromosomal abnormalities in both tumor components, indicating a common origin.

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Area of Science:

Neuro-oncology
Cancer Genetics

Background:

Astroblastoma is a rare primary brain tumor with distinct histologic features.
It is often seen as a component within other astrocytic tumors.
Astroblastoma as a de novo component of gliosarcoma and its association with neurofibromatosis Type I (NF1) are exceptionally rare.

Observation:

We present a unique case of anaplastic astroblastoma-sarcoma, a variant of gliosarcoma, in a 50-year-old female with documented NF1.
This represents the second reported instance of astroblastoma in the context of NF1.
The tumor exhibited both glial (astroblastoma) and sarcomatous elements arising de novo.

Findings:

Fluorescence in situ hybridization (FISH) revealed specific genetic alterations in the tumor.
These included a deletion of the PTEN gene, monosomy 17, and gains of chromosomes 19 and 20q.
These genetic abnormalities were present in both the glial and sarcomatous components, suggesting a shared clonal origin.

Implications:

This case expands the understanding of astroblastoma and gliosarcoma heterogeneity.
The shared genetic findings provide insights into the pathogenesis of these rare tumors in the context of NF1.
Further research into the genetic underpinnings of astroblastoma-sarcoma is warranted.