CNS tumor
Neuronal and mixed neuronal - glial tumors
Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)

Author: Eman Abdelzaher, M.D., Ph.D. (see Authors page)

Revised: 31 August 2017, last major update August 2013

Copyright: (c) 2002-2017, PathologyOutlines.com, Inc.

PubMed Search: Dysplastic gangliocytoma of the cerebellum [title]

Cite this page: Abdelzaher, E. Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease). PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/cnstumordysplasticgangliocytoma.html. Accessed November 23rd, 2017.
Definition / general
Etiology
  • Due to or associated with germline PTEN mutation (Am J Hum Genet 2003;73:1191)
  • PTEN mutations are identified in all adult onset cases but not in childhood onset cases
  • Associated with Cowden disease (OMIM: Cowden Syndrome 1; CWS1), an autosomal dominant disorder with trichilemmomas, hamartomas, intestinal polyposis, palmoplantar keratoses, oral papillomas; increased incidence of breast, GU, CNS and thyroid tumors; due to abnormalities in 10q23
Clinical features
  • Rare, < 200 cases described
  • Usually young adults, may present in childhood
  • Presents with dysmetria, headache, ataxia, mass effect
Radiology description
  • Unilateral cerebellar affection with distorted architecture and enlarged folia
  • Characteristic striped appearance on FLAIR and T2 W MRI images
Radiology images

Images hosted on other servers:

Various images

Case reports
Prognosis and treatment
  • Surgical resection if symptomatic
  • Good prognosis; recurs in 25% of cases but no malignant potential
Gross description
  • Discrete region of hypertrophy and coarse gyral pattern
Microscopic (histologic) description
  • Relative preservation of cerebellar architecture
  • Diffuse enlargement of internal granular layer and molecular layers, with replacement of internal granular layer by dysplastic ganglion cells of different sizes and axonal hypermyelination of molecular layer
  • Clear vacuoles in white matter and molecular layer
  • Common: calcification and ectatic vessels
  • No mitotic figures, no necrosis, no endothelial proliferation
Microscopic (histologic) images

Images hosted on other servers:

Thick layer of abnormal nerve cells on surface

Deformed nerve cells of variable size

Abnormally enlarged ganglion cells (arrow)

Large dysplastic nerve cell bodies

Hypertrophic folia

Neurons are neurofilament+

Immunohistochemistry
  • Dysplastic ganglion cells are synaptophysin+ with loss of PTEN protein expression; also are phosphorylated AKT+ and phosphorylated S6+ (indicates AKT / mTOR pathway activation)
Differential diagnosis