A case of a pilocytic astrocytoma with histological features of anaplasia and unprecedent genetic alterations

We report a case of pediatric glioma with uncommon imaging, morphological, and genetic features. A one‐year‐old boy incidentally presented with a tumor in the fourth ventricle. The tumor was completely resected surgically and investigated pathologically. The mostly circumscribed tumor had piloid fea...

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Bibliographic Details
Published in:Neuropathology 2024-04, Vol.44 (2), p.161-166
Main Authors: Moritsubo, Mayuko, Furuta, Takuya, Negoto, Tetsuya, Nakamura, Hideo, Uchiyama, Yusuke, Morioka, Motohiro, Oshima, Koichi, Sugita, Yasuo
Format: Article
Language:English
Subjects:
Anaplasia
anaplastic pilocytic astrocytoma
Astrocytoma
Astrocytoma - genetics
Astrocytoma - pathology
Brain cancer
Brain Neoplasms - genetics
Brain Neoplasms - pathology
brain tumor
Case reports
Child
Glioma
Glioma - pathology
Humans
Infant
KIAA1549::BRAF
Male
Mitosis
pathology
pediatric tumor
Pediatrics
Proto-Oncogene Proteins B-raf - genetics
Tumors
Ventricle
Ventricles (cerebral)
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Summary:We report a case of pediatric glioma with uncommon imaging, morphological, and genetic features. A one‐year‐old boy incidentally presented with a tumor in the fourth ventricle. The tumor was completely resected surgically and investigated pathologically. The mostly circumscribed tumor had piloid features but primitive and anaplastic histology, such as increasing cellularity and mitosis. The Ki‐67 staining index was 25% at the hotspot. KIAA1549::BRAF fusion and KIAA1549 partial deletions were detected by direct PCR, supported by Sanger sequencing. To the best of our knowledge, this is the first report of a glioma with both deletion of KIAA1549 p.P1771_P1899 and fusion of KIAA1549::BRAF. The tumor could not be classified using DNA methylome analysis. The present tumor fell into the category of pilocytic astrocytoma with histological features of anaplasia (aPA). Further studies are needed to establish pediatric aPA.
ISSN:0919-6544
1440-1789
DOI:10.1111/neup.12946