Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma
<p>Abstract</p> <p>Background</p> <p>Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. This holds true for melanoma, whose incidence is increasing more r...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2012-09-01
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| Series: | BMC Genomics |
| Online Access: | http://www.biomedcentral.com/1471-2164/13/505 |
| _version_ | 1818789675844763648 |
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| author | Gartner Jared J Davis Sean Wei Xiaomu Lin Jimmy C Trivedi Niraj S Teer Jamie K Meltzer Paul S Rosenberg Steven A Samuels Yardena |
| author_facet | Gartner Jared J Davis Sean Wei Xiaomu Lin Jimmy C Trivedi Niraj S Teer Jamie K Meltzer Paul S Rosenberg Steven A Samuels Yardena |
| author_sort | Gartner Jared J |
| collection | DOAJ |
| description | <p>Abstract</p> <p>Background</p> <p>Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. This holds true for melanoma, whose incidence is increasing more rapidly than any other cancer and once disseminated has few therapeutic options. Here we performed whole exome sequencing of two sets of matched normal and metastatic tumor DNAs.</p> <p>Results</p> <p>Using stringent criteria, we evaluated the similarities and differences between the lesions. We find that in both cases, 96% of the single nucleotide variants are shared between the two metastases indicating that clonal populations gave rise to the distant metastases. Analysis of copy number variation patterns of both metastatic sets revealed a trend similar to that seen with our single nucleotide variants. Analysis of pathway enrichment on tumor sets shows commonly mutated pathways enriched between individual sets of metastases and all metastases combined.</p> <p>Conclusions</p> <p>These data provide a proof-of-concept suggesting that individual metastases may have sufficient similarity for successful targeting of driver mutations.</p> |
| first_indexed | 2024-12-18T14:43:20Z |
| format | Article |
| id | doaj.art-10145d502c744e8d960e6c0f6aa2168e |
| institution | Directory Open Access Journal |
| issn | 1471-2164 |
| language | English |
| last_indexed | 2024-12-18T14:43:20Z |
| publishDate | 2012-09-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Genomics |
| spelling | doaj.art-10145d502c744e8d960e6c0f6aa2168e2022-12-21T21:04:20ZengBMCBMC Genomics1471-21642012-09-0113150510.1186/1471-2164-13-505Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanomaGartner Jared JDavis SeanWei XiaomuLin Jimmy CTrivedi Niraj STeer Jamie KMeltzer Paul SRosenberg Steven ASamuels Yardena<p>Abstract</p> <p>Background</p> <p>Metastasis is characterized by spreading of neoplastic cells to an organ other than where they originated and is the predominant cause of death among cancer patients. This holds true for melanoma, whose incidence is increasing more rapidly than any other cancer and once disseminated has few therapeutic options. Here we performed whole exome sequencing of two sets of matched normal and metastatic tumor DNAs.</p> <p>Results</p> <p>Using stringent criteria, we evaluated the similarities and differences between the lesions. We find that in both cases, 96% of the single nucleotide variants are shared between the two metastases indicating that clonal populations gave rise to the distant metastases. Analysis of copy number variation patterns of both metastatic sets revealed a trend similar to that seen with our single nucleotide variants. Analysis of pathway enrichment on tumor sets shows commonly mutated pathways enriched between individual sets of metastases and all metastases combined.</p> <p>Conclusions</p> <p>These data provide a proof-of-concept suggesting that individual metastases may have sufficient similarity for successful targeting of driver mutations.</p>http://www.biomedcentral.com/1471-2164/13/505 |
| spellingShingle | Gartner Jared J Davis Sean Wei Xiaomu Lin Jimmy C Trivedi Niraj S Teer Jamie K Meltzer Paul S Rosenberg Steven A Samuels Yardena Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma BMC Genomics |
| title | Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| title_full | Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| title_fullStr | Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| title_full_unstemmed | Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| title_short | Comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| title_sort | comparative exome sequencing of metastatic lesions provides insights into the mutational progression of melanoma |
| url | http://www.biomedcentral.com/1471-2164/13/505 |
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