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Sequencing data of multiple sarcoma samples for personalized medicine and endotype identification

Sequencing data derived from multiple patient samples was used to guide multiple patient-specific experiments and identify potential therapeutic options. These diseases are rare and high-risk (undifferentiated pleomorphic sarcoma, rhabdomyosarcoma) and thus have few available validated clinical options. This leaves the population of patients with few options if, and when, standard therapy fails to cure or control disease. An aspect of the personalize therapy design included the identification of broader disease endotypes (a combination of genetic and clinical data describing patient status) to identify subgroups of the individual disease that could better define treatments and could segment patient populations for deeper preclinical research.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001005458 Illumina Genome Analyzer IIx Illumina HiSeq 2500 17
Publications Citations
Undifferentiated small round cell sarcoma in a young male: a case report.
Cold Spring Harb Mol Case Stud 6: 2020 a004812
6
Defining an embryonal rhabdomyosarcoma endotype.
Cold Spring Harb Mol Case Stud 6: 2020 a005066
7
Deep Functional and Molecular Characterization of a High-Risk Undifferentiated Pleomorphic Sarcoma.
Sarcoma 2020: 2020 6312480
5
Refractory alveolar rhabdomyosarcoma in an 11-year-old male.
Cold Spring Harb Mol Case Stud 7: 2021 a005983
1
Defining the Extracellular Matrix of Rhabdomyosarcoma.
Front Oncol 11: 2021 601957
7
Functional impact of a germline RET mutation in alveolar rhabdomyosarcoma.
Cold Spring Harb Mol Case Stud 7: 2021 a006049
0