Objective: Discuss the presentation of glioblastoma multiforme in patients with Huntington’s disease

Background: Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by a trinucleotide repeat expansion in the gene coding for huntingtin (mHTT). mHTT is known to be involved in neuronal loss and alterations in the apoptotic pathway. Prior studies have shown an inverse relationship between HD and cancer. Among the patients followed at the McGovern Medical School – Huntington’s disease Society of America (HDSA) Center of Excellence, two patients with Huntington’s disease have been diagnosed with high grade gliomas.

Methods: Case series and review of literature.

Results: Patient A presented with psychiatric symptoms (insomnia, depression) at age 34; motor symptoms (chorea, ataxia) at age 36 and was diagnosed with HD with 60 CAG repeats. At age 40, she had acute onset of hypermotor seizures (generalized) and apraxia. Neuroimaging revealed a left frontal, cortical based mass and histopathological review of the resected mass confirmed WHO grade IV glioblastoma multiforme (GBM). She passed away at age 43. Patient B was presented with chorea and was diagnosed with HD at age 60. He had psychiatric symptoms manifesting three years prior. Genetic testing revealed 41 CAG repeats. At age 66, he was noted to have left visual neglect and hypomotor seizures. Neuroimaging was consistent with a high grade glioma of the left parieto-occipital lobe with infiltration of the splenium suggestive of GBM. The patient passed away within six months of diagnosis of the tumor diagnosis.

Conclusions: Patient A presented with psychiatric symptoms (insomnia, depression) at age 34; motor symptoms (chorea, ataxia) at age 36 and was diagnosed with HD with 60 CAG repeats. At age 40, she had acute onset of hypermotor seizures (generalized) and apraxia. Neuroimaging revealed a left frontal, cortical based mass and histopathological review of the resected mass confirmed WHO grade IV glioblastoma multiforme (GBM). She passed away at age 43. Patient B was presented with chorea and was diagnosed with HD at age 60. He had psychiatric symptoms manifesting three years prior. Genetic testing revealed 41 CAG repeats. At age 66, he was noted to have left visual neglect and hypomotor seizures. Neuroimaging was consistent with a high grade glioma of the left parieto-occipital lobe with infiltration of the splenium suggestive of GBM. The patient passed away within six months of diagnosis of the tumor diagnosis.

References: 1. Sørensen, S. A., Fenger, K. and Olsen, J. H. (1999), Significantly lower incidence of cancer among patients with Huntington disease. Cancer, 86: 1342–1346. 2. Xuereb, JH, MacMillan, JC, Snell, R, Davies, P, Harper, PS. Neuropathological diagnosis and CAG repeat expansion in Huntington’s disease. J Neurol Neurosurg Psychiatry. 1996;60:78–81.

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