What is the clinical evidence from this study?

Study design: Cohort. Population: Primary adipocytic tumors (including liposarcoma) (n=341). Intervention: High MDM2 copy number variation (CNV ≥ 16.85 copies) assessed by ddPCR vs. Low MDM2 copy number variation (CNV < 16.85 copies). Primary outcome: Recurrence (HR 36.6, 95% CI 4.0-4914.2).

What question did this study set out to answer?

This research aims to evaluate the diagnostic and prognostic utility of droplet digital PCR (ddPCR) for MDM2 amplification in liposarcoma.

August 5, 2026International Journal of Molecular Sciences0 citationsOpen Access

Droplet Digital PCR Assessment of MDM2 Amplification in Liposarcoma Diagnosis and Prognosis: A French Single-Center Cohort Study

Q: What are the key findings of this study?

High MDM2 copy number variation (≥ 16.85 copies) assessed by ddPCR was an independent predictor of recurrence in primary adipocytic tumors (HR 36.6; 95% CI 4.0-4914.2).

Q: What question did this study set out to answer?

This research aims to evaluate the diagnostic and prognostic utility of droplet digital PCR (ddPCR) for MDM2 amplification in liposarcoma.

AAAmira Amri AHAurélie Haffner FFFréderic Fina

Key Result

High MDM2 copy number variation (≥ 16.85 copies) assessed by ddPCR was an independent predictor of recurrence in primary adipocytic tumors (HR 36.6; 95% CI 4.0-4914.2).

Key Points

This research aims to evaluate the diagnostic and prognostic utility of droplet digital PCR (ddPCR) for MDM2 amplification in liposarcoma.
Retrospective analysis of 341 primary adipocytic tumors including 85 liposarcomas.
Comparison of ddPCR and FISH for MDM2 amplification detection.
Statistical analyses including ROC analysis and survival analysis were performed to evaluate associations with clinicopathological outcomes.
ddPCR showed diagnostic utility for MDM2 amplification, confirming findings from FISH.
CNV ≥ 16.85 copies predicted dedifferentiation and recurrence with AUC values of 0.982 and 0.942, respectively.
High CNV remained an independent predictor of recurrence with HR 36.6 (95% CI 4.0–4914.2).

Study Design

Type

Cohort (n=341)

Multicenter

Structured PICO

Does droplet digital PCR (ddPCR) improve diagnosis and risk stratification compared to FISH in patients with liposarcoma?

Population

341 primary adipocytic tumors, including 85 liposarcomas, retrospectively analyzed to evaluate MDM2 copy number variation.

Exposure

Droplet digital PCR (ddPCR) to quantify MDM2 copy number variation (CNV)

Comparator

Fluorescence in situ hybridization (FISH)

Outcome

Diagnostic performance for detecting MDM2 amplification and prognostic value (recurrence-free and overall survival)surrogate

Quantitative MDM2 copy number assessment by ddPCR is a robust diagnostic tool that provides significant prognostic information for recurrence in liposarcoma.

Main Result

Hazard Ratio: 36.6 (95% CI 4–4914.2)

Abstract

Amplification of MDM2 is the molecular hallmark of atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDL) and dedifferentiated liposarcoma (DDL). While fluorescence in situ hybridization (FISH) is widely used for diagnosis, the diagnostic and prognostic value of droplet digital PCR (ddPCR) remains poorly defined. We retrospectively analyzed 341 primary adipocytic tumors, including 85 liposarcomas (22 DDL), using ddPCR to quantify MDM2 copy number variation (CNV). Diagnostic performance was compared with FISH, and associations with clinicopathological variables and outcomes were evaluated using non-parametric tests, ROC analysis, survival analysis, and Firth’s penalized Cox models. Comparison with FISH confirmed the diagnostic utility of ddPCR for detecting MDM2 amplification, while quantitative CNV assessment provided additional prognostic information. CNV values were significantly higher in deep-seated and dedifferentiated tumors and were strongly associated with local recurrence. ROC analysis identified a threshold of 16.85 copies predicting both dedifferentiation and recurrence (AUC 0.982 and 0.942, respectively). Patients with CNV ≥ 16.85 copies had significantly shorter recurrence-free and overall survival. In multivariable analysis, high CNV remained an independent predictor of recurrence (HR 36.6, 95% CI 4.0–4914.2). These findings support ddPCR as a robust method for MDM2 assessment and suggest that quantitative MDM2 copy number may improve both diagnosis and risk stratification in liposarcoma.

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