Fig 1.
MDM2 amplification in tumor specimens and genome-wide DNA copy number profiles of plasma specimens of two patients with DDLPS.
A) and B) Detection of high-level amplification of MDM2 in tumor specimens from patients DDLPS1 and DDLPS2, respectively. Green fluorescent signal–ZyGreen labeled polynucleotides, which target sequences at 12q15 harboring the MDM2 gene region. Red fluorescent signal–ZyOrange labeled polynucleotides, which target sequences at 12p11.1-q11 specific for the alpha satellite centromeric region D12Z3 of chromosome 12. C) Copy number alterations detected in autosomal cell-free DNA of patients DDLPS1 and DDLPS2. The MDM2 gene is in the 12q15 locus.
Table 1.
Summary of clinical features of DDLPS and WDLPS patients.
Table 2.
Detection of MDM2 amplification in cell-free DNA of patients with different types of soft tissue tumors.
Fig 2.
Computed tomography scans (DDLPS1 and DDLPS3) and a T2 fat-suppressed magnetic resonance image (DDLPS2) of patients with DDLPS.
The tumor of patient DDLPS3 was mostly well differentiated liposarcoma, which is reflected on imaging by the low density, homogenous appearance.
Table 3.
Copy number alterations identified in cell-free DNA of patients DDLPS1 and DDLPS2 that affect genes known to be recurrently amplified in DDLPS.
Fig 3.
Longitudinal monitoring of MDM2 amplification in cell-free DNA of patient DDLPS1.
[SD–stable disease; PD–progressive disease, DOD–died of disease, ND–not detectable].