Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer
| Autor: | Rainer Lehtonen, Lauri A. Aaltonen, Virpi Launonen, Taru A. Koski, Heli J. Lehtonen, Pia Vahteristo, Kowan J. Jee, Simon A. Joosse, Marja Hietala, Kristiina Aittomäki, Sakari Knuutila, Maija Ht Kiuru, Heli Sammalkorpi, Auli Karhu, Shinsuke Ninomiya, Riitta Herva, Sakari Vanharanta, Petra M. Nederlof, Henrik Edgren |
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| Rok vydání: | 2009 |
| Předmět: |
Adult
Male Cancer Research medicine.medical_specialty Gene Dosage Biology urologic and male genital diseases Bioinformatics Gene dosage 03 medical and health sciences 0302 clinical medicine Leiomyomatosis Germline mutation SDG 3 - Good Health and Well-being Genetics medicine Carcinoma Humans Carcinoma Renal Cell Gene Aged 030304 developmental biology Chromosome Aberrations Comparative Genomic Hybridization 0303 health sciences Middle Aged medicine.disease Kidney Neoplasms 3. Good health Mutagenesis Insertional 030220 oncology & carcinogenesis Fumarase Cancer research Female Histopathology Gene Deletion Comparative genomic hybridization |
| Zdroj: | Koski, T A, Lehtonen, H J, Jee, K J, Ninomiya, S, Joosse, S A, Vahteristo, P, Kiuru, M, Karhu, A, Sammalkorpi, H, Vanharanta, S, Lehtonen, R, Edgren, H, Nederlof, P M, Hietala, M, Aittomäki, K, Herva, R, Knuutila, S, Aaltonen, L A & Launonen, V 2009, ' Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer ', Genes, Chromosomes and Cancer, vol. 48, no. 7, pp. 544-551 . https://doi.org/10.1002/gcc.20663 |
| ISSN: | 1098-2264 1045-2257 |
| DOI: | 10.1002/gcc.20663 |
| Popis: | Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome with cutaneous and uterine leiomyomatosis as well as renal cell cancer (RCC) as its clinical manifestations. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (fumarase) gene. In this study, we used array comparative genomic hybridization to identify the specific copy number changes characterizing the HLRCC‐associated RCCs. The study material comprised formalin‐fixed paraffin‐embedded renal tumors obtained from Finnish patients with HLRCC. All 11 investigated tumors displayed the papillary type 2 histopathology typical for HLRCC renal tumors. The most frequent copy number changes detected in at least 3/11 (27%) of the tumors were gains in chromosomes 2, 7, and 17, and losses in 13q12.3‐q21.1, 14, 18, and X. These findings provide genetic evidence for a distinct copy number profile in HLRCC renal tumors compared with sporadic RCC tumors of the same histopathological subtype, and delineate chromosomal regions that associate with this very aggressive form of RCC. |
| Databáze: | OpenAIRE |
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