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Cerebellar liponeurocytoma (cLNC), categorized as a World Health Organization grade II tumor, is a rare neoplasm characterized by advanced neuronal/neurocytic differentiation and focal lipid accumulation in neuroepithelial tumor cells. However, the expression and genetic profiling of cLNC have been poorly studied. A 44-year-old woman with a three-year history of cerebellar ataxia and numbness in lower extremities underwent radiological examination revealing multiple contrast-enhancing tumors at the floor of the fourth ventricle and in the lower vermis, and spinal dissemination. The high uptake of 11 C-methionine in positron emission tomography (Met-PET) supported the preoperative cLNC diagnosis. Subtotal removal of the tumor around the obex and inferior vermis was performed. Histologically, the tumor was composed of small, uniform cells with round nuclei in a sheet-like fashion. Tumor cells were diffusely reactive for the neuronal markers synaptophysin and neurofilament. Vacuolate cells with a displacement of nuclei suggested the accumulation of lipid, which was further supported by immunohistochemical staining of S-100. These findings confirmed the diagnosis of cLNC. Next-generation sequencing of tumoral DNA detected a splice site mutation in the ATRX gene. Further reports of cLNC cases with detailed expression and genetic profiles are essential for precise diagnosis and clarifying the oncogenic pathway in cLNC. [ABSTRACT FROM AUTHOR]

Cerebellar liponeurocytoma is a rare tumor that usually develops in adult patients, and is categorized as World Health Organization grade II. Because of the small number of reports on its radiological and pathological features, the disease remains poorly characterized. The current case involved a 59-year-old man with tumor in the upper cerebellar vermis. Preoperative positron emission tomography (PET) showed high uptake on C-methionine PET, but low uptake on F-fluorodeoxyglucose PET. These findings resemble those of central neurocytoma and oligodendroglioma, but are incompatible with other brain tumors. Subtotal tumor removal was performed by suboccipital craniotomy. Histopathological examinations showed sheets of small, isomorphic cells with round nuclei and clear cytoplasm, and focal vacuolated cells resembling adipose cells. On immunohistochemistry, tumor cells were positive for synaptophysin and NeuN. Vacuolated cells were immunoreactive for perilipin. Based on these findings, cerebellar liponeurocytoma was diagnosed. Genetic analyses revealed absences of both chromosome 1p/19q loss and isocitrate dehydrogenase 1 mutation, further ruling out oligodendroglioma. These radiological and genetic aspects of cerebellar liponeurocytoma, which are mostly in common with central neurocytoma, should prove helpful in differentiating this rare tumor from other tumors with similar morphology. [ABSTRACT FROM AUTHOR]

Cerebellar liponeurocytoma (cLPN) is a very rare central nervous system (CNS) tumour recently recognized as a clinical and pathological entity distinct from medulloblastoma (MB), and included in the WHO classification of CNS tumours under the heading 'glioneuronal tumours'. cLPN typically develop in adult age and have a favourable prognosis compared with MB. In this work, we reviewed the clinical and neuroradiological data of two novel cases of adult cLPN diagnosed at our institution; one patient developed distant metastases. We tried to identify novel molecular markers for this malignancy. We found that the transcription factor NEUROG1 (but not ATOH1) is expressed in cLPN, unlike normal adult cerebellum, and that fatty acid binding protein 4 ( FABP4), typically found in adipocytes, is significantly overexpressed compared with both normal adult cerebellum and human MB. These findings suggest cLPN occur as a result of transformation of cerebellar progenitors, which are distinct from cerebellar granule progenitors, and aberrantly differentiate into adipocyte-like tumour cells. They also suggest that analysis of FABP4 expression is of help to differentiate cLPN from MB. [ABSTRACT FROM AUTHOR]