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Intratumoral heterogeneity of cancer driver genomic alterations in myxoid liposarcomas

Adrian Schmid1, Anja E Eisenhardt1, Balazs Bogner2

  • 1Department of Plastic and Hand Surgery, Medical Center - University of Freiburg, Freiburg im Breisgau, Germany.

Cancer
|June 9, 2025
PubMed
Abstract

Insights

Myxoid liposarcomas (MLS) harbor consistent translocations (t(12;16)/t(12;22)) and TERT promoter mutations, unlike heterogeneous PIK3CA mutations. These consistent genetic alterations in MLS are promising therapeutic targets.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Myxoid liposarcomas (MLS) are rare mesenchymal tumors.
  • Key genetic alterations include t(12;16), t(12;22), PIK3CA, and TERT promoter mutations.
  • PIK3CA is a potential therapeutic target, but its efficacy depends on uniform tumor presence.

Purpose of the Study:

  • To investigate the intratumoral heterogeneity of driver mutations in MLS.
  • To assess the distribution of translocations and mutations across primary tumors, recurrences, and metastases.

Main Methods:

  • Next-generation sequencing (NGS) panel analysis of 170 samples from 20 MLS tumors (12 patients).
  • Detection of t(12;16), t(12;22) translocations, and known driver mutations (PIK3CA, TERT promoter).

Main Results:

  • Translocations t(12;16) or t(12;22) were detected in 94% of samples and were consistent across tumor stages.
  • TERT promoter mutations were found in 85% of tumors and showed similar distribution.
  • PIK3CA mutations were present in only 39% of samples and were subclonal within tumors.

Conclusions:

  • Subclonal PIK3CA mutations limit therapeutic success.
  • Ubiquitous t(12;16), t(12;22), and TERT promoter mutations represent more effective therapeutic targets for MLS.
Keywords:
clonal evolutionmyxoid liposarcomanext‐generation sequencingsoft tissue sarcomatumor heterogeneity

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