Copy number variation analysis and methylome profiling of a GNAQ-mutant primary meningeal melanocytic tumor and its liver metastasis
| Autor: | Pieter Wesseling, Trudi C. Machielsen, Heidi V.N. Küsters-Vandevelde, Benno Küsters, Tom Boterberg, Christian Koelsche, Willeke A. M. Blokx, Rolph Pfundt, Patricia J. T. A. Groenen, Andreas von Deimling, Tom Van Maerken, David Creytens, Vibeke Kruse, Caroline Van den Broecke |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
Pathology
Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] Clinical Biochemistry Case Reports Metastasis 0302 clinical medicine Fatal Outcome Meningeal Neoplasms Melanoma Liver metastasis BAP1 Liver Neoplasms Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] Primary tumor Combined Modality Therapy 030220 oncology & carcinogenesis Melanocytes Female Melanocytoma Chromosome Deletion Ubiquitin Thiolesterase GNAQ Adult medicine.medical_specialty DNA Copy Number Variations Meningeal melanoma Rare cancers Radboud Institute for Molecular Life Sciences [Radboudumc 9] Methylation Pathology and Forensic Medicine 03 medical and health sciences medicine Journal Article Humans Copy number variations Molecular Biology Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] GNA11 business.industry Tumor Suppressor Proteins Meningeal melanocytic tumor DNA Methylation medicine.disease Meningeal Melanoma Ipilimumab Mutation GTP-Binding Protein alpha Subunits Gq-G11 business 030217 neurology & neurosurgery |
| Zdroj: | Experimental and molecular pathology, 102(1), 25. Academic Press Inc. Experimental and Molecular Pathology, 102, 1, pp. 25-31 Experimental and Molecular Pathology, 102, 25-31 |
| ISSN: | 0014-4800 |
| Popis: | Contains fulltext : 169935.pdf (Publisher’s version ) (Closed access) Primary meningeal melanocytic tumors have genetic similarities with uveal melanomas, including GNAQ or GNA11 mutations. While BAP1 mutations and loss of chromosome 3 have adverse prognostic meaning in uveal melanoma, genetic alterations associated with metastasis have not been investigated in primary meningeal melanocytic tumors. We describe a 43-year-old female with a GNAQ-mutated, BAP1-wt melanocytic tumor originating in the parietal brain region and liver metastases 4years after initial diagnosis. After repeated surgery and chemotherapy she was treated with the immunomodulatory agent ipilimumab. Tissue from the primary and recurrent intracranial tumor (histologically originally diagnosed as intermediate-grade melanocytoma resp. melanoma) and from the liver metastasis was investigated for genome-wide copy number variations and DNA methylation profile. Complete loss of 10p and 19p, partial loss of 16p and a small deletion on 10q were only present in the liver metastasis and not in the intracranial tumors. The DNA methylation profiles of the intracranial tumors and the liver metastasis resembled those of meningeal melanocytomas. In conclusion, in this report we show that a distant metastasis of a meningeal melanocytic tumor has a similar methylation profile as the primary tumor and suggest that particular copy number variations may be associated with metastatic behavior. |
| Databáze: | OpenAIRE |
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