Lhermitte-Duclos disease

Identity

Other names	Dysplastic gangliocytoma of the cerebellum
Atlas_Id	10065
Genes implicated in	PTEN
Note	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).
Inheritance	Sporadic, or autosomal dominant if associated with Cowden disease

Clinics

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.

Neoplastic risk

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

Gene Name	PTEN (or MMAC1 or TEP1) in cases related to Cowden disease.
Location	10q23

Protein
Expression	403 amino-acids, phosphatase with tumor suppressive effects, negative regulator of the PI3K/Akt signal cell pathway by dephosphorylating PIP3

Bibliography

Lhermitte-Duclos disease (granule cell hypertrophy of the cerebellum) pathological analysis of the first familial cases.

Ambler M, Pogacar S, Sidman R

Journal of neuropathology and experimental neurology. 1969 ; 28 (4) : 622-647.

PMID 5345120

Sur un ganglioneurome diffus du cortex du cervelet.

Lhermitte J, Duclos P

Bull Assoc Fr Etud Cancer. 1920 ; 9 : 99-107.

Lhermitte-Duclos disease (Dysplastic gangliocytoma of the cerebellum).

Nowak DA, Trost HA, Porr A, Stolzle A, Lumenta CB

Clinical neurology and neurosurgery. 2001 ; 103 (2) : 105-110.

PMID 11516554

Lhermitte-Duclos disease and Cowden disease: a single phakomatosis.

Padberg GW, Schot JD, Vielvoye GJ, Bots GT, de Beer FC

Annals of neurology. 1991 ; 29 (5) : 517-523.

PMID 1859181

Citation

This paper should be referenced as such :

Longy, M

Lhermitte-Duclos disease

Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):58-58.

Free journal version : [ pdf ]   [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Tumors/LhermitteDuclID10065.html

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Fri Jun 30 11:24:26 CEST 2017

For comments and suggestions or contributions, please contact us