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Because the DNA segments are cut and reorganized in a direction-specific manner, site-specific recombination has emerged as an efficient genetic engineering technique. Flippase and Cyclization recombinases or Flp and Cre, respectively, are two members of the tyrosine recombinase family derived from bacteriophages, that are used to mediate site-specific DNA insertions, deletions, and targeted expression of proteins in mammalian cell lines.
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Subclonal Somatic Copy-Number Alterations Emerge and Dominate in Recurrent Osteosarcoma.

Michael D Kinnaman1,2, Simone Zaccaria3,4, Alvin Makohon-Moore5,6,7

  • 1Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York.

Cancer Research
|October 9, 2023
PubMed
Summary
This summary is machine-generated.

Osteosarcoma relapse is driven by pre-existing subclones that emerge under treatment pressure. Genomic profiling reveals MYC amplification and homologous repair deficiency (HRD) as key factors in treatment resistance and recurrence.

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Area of Science:

  • Genomics
  • Oncology
  • Cancer Evolution

Background:

  • Osteosarcoma genomic profiling aims to identify drivers of tumorigenesis, treatment response, and recurrence.
  • Intratumor heterogeneity, both spatial and temporal, may influence tumor growth and treatment resistance.

Purpose of the Study:

  • To investigate clonal evolution and identify genomic drivers of treatment resistance in relapsed or refractory osteosarcoma.
  • To analyze spatial and temporal intratumor heterogeneity in osteosarcoma.

Main Methods:

  • Longitudinal whole-genome sequencing of 37 tumor samples from 8 patients with relapsed/refractory osteosarcoma.
  • Analysis of primary and metastatic/relapse sites.
  • Subclonal copy-number alteration analysis, chromosomal duplication timing, and mutational signature analysis.

Main Results:

  • Subclonal copy-number alterations were common, with primary tumor subclones dominating relapses in 5 patients.
  • MYC gain/amplification was enriched in treatment-resistant clones in 6 of 7 patients.
  • Homologous repair deficiency (HRD)-related mutational signatures increased over time in recurrent disease.

Conclusions:

  • Osteosarcoma recurrence is influenced by the emergence of pre-existing subclones under selective pressure.
  • MYC amplification and ongoing homologous repair deficiency are associated with treatment resistance and recurrence in osteosarcoma.