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.

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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
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article

NF1-ASSOCIATED MIDLINE HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES ARISING IN THE DORSAL THALAMUS: A DIAGNOSTIC CONSIDERATION

Tuçe Söylemez, Başak Atalay, Fatih Çalış, Ahmet Özdemir et al.
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Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi
Glioma Diagnosis and Treatment
article

NF1-ASSOCIATED MIDLINE HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES ARISING IN THE DORSAL THALAMUS: A DIAGNOSTIC CONSIDERATION

Tuçe Söylemez, Başak Atalay, Fatih Çalış, Ahmet Özdemir, Ahmet Erbağcı, Baran Canku Karataş
article en

Abstract

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.

Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi DergisiVol. 89(4)
Istanbul Medeniyet University (TR)
Good health and well-being
Openalex Percentile: Top 13%
Glioma Diagnosis and Treatment
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NF1-ASSOCIATED MIDLINE HIGH-GRADE ASTROCYTOMA WITH PILOID FEATURES ARISING IN THE DORSAL THALAMUS: A DIAGNOSTIC CONSIDERATION — Tuçe Söylemez, Başak Atalay, et al. · Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi (2026) | TGRS Research Map | TGRS