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Unite de Genetique Oncologique, Institut Bergonie, 180, rue de Saint-Genes, 33076 Bordeaux, France
Dysplastic gangliocytoma of the cerebellum
Lhermitte-Duclos disease may either be considered as a Cancer Prone disease (herein described) with an autosomal dominant inheritance mode or as a Solid Tumor on itself (see Dysplastic gangliocytoma of the cerebellum).
Sporadic, or autosomal dominant if associated with Cowden disease
65285 Lhermitte-Duclos disease
Phenotype and clinics
Lhermitte-Duclos disease consists in the occurrence of a slowly enlarging mass within the cerebellar cortex corresponding histologically to a cerebellar hamartoma.
Clinical manifestations are commonly a long standing history of vague defined neurological symptoms related to raised intracanial pressure and cerebellar signs affecting usually a young adult.
Diagnosis is based on cerebral imaging methods, mainly NMR-imaging.
Therapy consists of decompression of the posterior fossa by total surgical removal of the tumour mass.
Histopathological finding confirm the diagnosis of dysplastic gangliocytoma of the cerebellum in front of a hamartoma lesion with widening of the molecular layer occupied by abnormal ganglion cells, absence of Purkinje cell layer and hypertrophy of granular layer.
Related syndromes: Association with other lesions such as macrocephaly, polydactylia, multiple hemangioma, goiter, intestinal polyps was often observed. One case of familial cluster was reported. In fact, many cases of dysplastic cerebellar gangliocytoma are related to Cowden disease and such patients show various finding of this autosomal dominant condition with variable expression.
In cases of Lhermitte-Duclos related to a Cowden disease, malignant tumours characterizing this affection (mainly breast carcinoma and thyroid carcinoma) can occur.
Genes involved and Proteins
403 amino-acids, phosphatase with tumor suppressive effects, negative regulator of the PI3K\/Akt signal cell pathway by dephosphorylating PIP3
Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases.
Ambler M et al
Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum).
Nowak DA et al
Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.
Padberg GW et al
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