Categories: Neoplasm

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 158350 (trait) , 601728 (gene)

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: also called Lhermitte-Duclos disease

Clinical features: Imlau et al. (2022): "A 2.5-year-old cat presented with progressive ataxia and lethargy. Magnetic resonance imaging (MRI) showed enlargement of the cerebellum and herniation of cerebellar vermis."

Pathology: Imlau et al. (2022): "Postmortem examination confirmed the MRI findings, and histopathology showed numerous large dysplastic neurons populating and displacing the Purkinje cell layer and extending into the molecular and granular layers of the cerebellum. The lesion was diagnosed as dysplastic gangliocytoma of the cerebellum. ... . Reduction in PTEN nuclear and cytoplasmic immunohistochemical labeling of dysplastic neurons in this case suggested a possible PTEN mutation involved in the tumorigenesis."