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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Pigmented variant of pleomorphic xanthoastrocytoma - A rare long-term epilepsy associated neoplasm
Rajalakshmi Poyuran1, Nirupam Moudgil1, Arivazhagan Arimappamagan2
1Department of Neuropathology, NIMHANS, Bengaluru, Karnataka, India.
Abstract:
Pleomorphic xanthoastrocytoma (PXA) is an uncommon, long-term epilepsy associated tumor of young adults. Its pigmented variant is exceedingly rare, with only five previously reported cases on record. We report the sixth case of pigmented PXA in a 24-year-old lady presenting with long-standing seizures. The MRI revealed a solid cystic lesion located in the right medial temporal lobe. Histopathologically, the superficially located tumor showed typical features of PXA with melanin-laden astrocytic component and was negative for V600E-mutant BRAF. The histogenesis is discussed.
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