Malignant phyllodes tumors with sarcomatous components: A histopathologic and molecular study.

Area of Science:

• Oncology
• Genomics
• Pathology

Background:

• Malignant phyllodes tumors (MPTs) with sarcomatous components carry high risks of recurrence.
• Understanding their molecular profiles is key for developing novel therapeutic strategies.

Purpose of the Study:

• To characterize the clinicopathological and molecular features of MPTs with sarcomatous components.
• To compare these features with MPTs lacking sarcomatous elements.
• To identify potential therapeutic targets and prognostic indicators.

Main Methods:

• Analysis of ten MPT cases, with eight undergoing next-generation sequencing (NGS).
• Comparison of clinicopathological data and genomic profiles between MPTs with and without sarcomatous components.

Main Results:

• MPTs with osteosarcoma components showed a significantly poorer prognosis.
• High frequencies of mutations were observed in TP53, MUC16, PTCH1, and APC genes.
• Amplifications in MCL1 and MYC were frequent, and the NOTCH signaling pathway was strongly associated with sarcomatous MPTs.

Conclusions:

• Osteosarcoma component presence is an unfavorable prognostic indicator in MPTs.
• Activating TP53 mutations and NOTCH pathway dysregulation are implicated in tumor development and progression.
• These findings provide insights for clinical prognosis and potential therapeutic interventions.