Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Lhermitte-Duclos disease

Written2001-10Michel Longy
Unite de Genetique Oncologique, Institut Bergonie, 180, rue de Saint-Genes, 33076 Bordeaux, France

(Note : for Links provided by Atlas : click)


Other namesDysplastic gangliocytoma of the cerebellum
Atlas_Id 10065
Genes implicated inPTEN  
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


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 NamePTEN (Phosphatase and Tensin homolog deleted on chromosome Ten)
    Location 10q23.31
    Expression 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, 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


    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 :

    External links

    OrphanetLhermitte-Duclos disease
    Other databaseLhermitte-Duclos disease (GARD)
    Genes implicated inPTEN   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Fri Oct 1 16:52:39 CEST 2021

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us