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Dysplastic Gangliocytoma (Lhermitte-Duclos Disease) Associated with Cowden Disease: Report of a Case and Review of the Literature for the Genetic Relationship between the Two Diseases

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Abstract

We report a case of dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease, LDD). The patient also had cutaneous and mucosal hamartomas, adenomatous goiter, bilateral breast tumors, and gastrointestinal polyposis, indicating the diagnosis of Cowden disease (CD), the familial hamartoma syndrome. This was a rare sporadic case without any family history of CD, though CD is considered to be an autosomal dominant hereditary disease. Based on a thorough review of the previously reported cases, it is reasonable to consider that CD is inherited in autosomal dominant fashion through a CD gene (PTEN) containing a germline mutation, and that the occurrence of LDD is predicated on an additional somatic hit on the remaining normal CD allele or another unknown gene.

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Authors and Affiliations

  1. Department of Neurosurgery, Hokkaido University School of Medicine, Japan

    Jun-ichi Murata, Mitsuhiro Tada, Yutaka Sawamura & Hiroshi Abe

  2. Hokkaido Neurosurgical Memorial Hospital, Sapporo, Japan

    Jun-ichi Murata & Kenji Mitsumori

  3. Department of Pathology, Hokkaido University School of Medicine, Sapporo, Japan

    Kazuo Nagashima

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  1. Jun-ichi Murata
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  2. Mitsuhiro Tada
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  5. Hiroshi Abe
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  6. Kazuo Nagashima
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Murata, Ji., Tada, M., Sawamura, Y. et al. Dysplastic Gangliocytoma (Lhermitte-Duclos Disease) Associated with Cowden Disease: Report of a Case and Review of the Literature for the Genetic Relationship between the Two Diseases. J Neurooncol 41, 129–136 (1999). https://doi.org/10.1023/A:1006167421100

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