ID
45521
Descripción
Principal Investigator: Todd Golub, Dana Farber Cancer Institute, Boston, MA, USA MeSH: https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000699 In this study we attempt to elucidate the genomic characteristics of osteosarcoma. *Clinical characteristics* 58 tumor / normal pairs from 58 patients were included in the study. Median age at diagnosis was 12 years. 49% of the patients were male and 47% had metastases at diagnosis. 5 year overall survival was 49% for the entire population, 33% for patients with metastatic disease and 64% for patients with localized disease. Patients with metastatic disease at diagnosis had a significantly worse overall survival. All cases except 2 were sporadic and no patients had stigmata of Rothmund-Thomson, Bloom's or Werner's syndromes or Paget's disease. Two familial cases were affected siblings from a family in which there were 2 unaffected parents and 2 unaffected siblings. None of the patients had known Li Fraumeni or hereditary retinoblastoma. *Sample Selection and Clinical Data* Samples were contributed by hospitals in Brazil, Spain, Mexico and the United States. All patients had histopathology confirmed to be osteosarcoma by a pathologist at the local institution. All but 5 tumor specimens sequenced were obtained pre-chemotherapy from the primary tumor at the time of diagnosis. 2 tumor specimens were obtained pre-chemotherapy from a metastatic tumor at the time of diagnosis. 3 tumor specimens were obtained post-chemotherapy from a metastatic tumor.
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Versiones (1)
- 14/12/22 14/12/22 - Simon Heim
Titular de derechos de autor
Todd Golub, Dana Farber Cancer Institute, Boston, MA, USA
Subido en
14 de diciembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000699 Osteosarcoma Genomics
This data table contains subject IDs and consent group information.
- StudyEvent: SEV1
- This data table contains subject IDs and consent group information.
- This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype data table contains gender, age at diagnosis, months of survival since diagnosis, survival status, and locus of metastic tumor.
- This sample attributes data table includes analyte type and tumor status.
Similar models
This data table contains subject IDs and consent group information.
- StudyEvent: SEV1
- This data table contains subject IDs and consent group information.
- This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.
- This subject phenotype data table contains gender, age at diagnosis, months of survival since diagnosis, survival status, and locus of metastic tumor.
- This sample attributes data table includes analyte type and tumor status.