NF1-ASSOCIATED MIDLINE HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES ARISING IN THE DORSAL THALAMUS: A DIAGNOSTIC CONSIDERATION
High-grade astrocytoma with piloid features (HGAP) is a recently defined brain tumor entity primarily diagnosed via DNA methylation profiling due to its histological overlap with glioblastoma and pilocytic astrocytoma. We report a 26-year-old man with neurofibromatosis type 1 (NF1) presenting with a high-grade midline lesion involving the thalamus and mesencephalon. Histopathological examination demonstrated a high-grade glial neoplasm with loss of ATRX expression by immunohistochemistry. While HGAP typically occurs in the posterior fossa, NF1-associated cases show a marked predilection for midline locations, complicating the differential diagnosis with other high-grade gliomas. In this case, DNA methylation profiling confirmed the diagnosis with high confidence. Prognostically, HGAP demonstrates an intermediate survival profile, with a 5-year overall survival rate of approximately 50%, which is superior to IDH-wild-type glioblastoma but inferior to conventional pilocytic astrocytoma. Although standardized treatment guidelines are lacking, identifying targetable molecular alterations remains essential for management.
Authors
- Tuçe Söylemez (ORCID: https://orcid.org/0000-0003-3030-7030)
- Başak Atalay (ORCID: https://orcid.org/0000-0003-3318-3555)
- Fatih Çalış (ORCID: https://orcid.org/0000-0003-2637-1152)
- Ahmet Özdemir (ORCID: https://orcid.org/0000-0002-4492-8172)
- Ahmet Erbağcı (ORCID: https://orcid.org/0009-0008-1580-2926)
- Baran Canku Karataş (ORCID: https://orcid.org/0009-0006-1056-3087)
Institutions
- Istanbul Medeniyet University (TR)
Publication Details
- Journal
- Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
- Published
- 2026-10-27
- DOI
- https://doi.org/10.26650/iuitfd.1913731
- Primary Topic
- Glioma Diagnosis and Treatment
- Type
- article
- Field-Weighted Citation Impact
- 0.00