PMC8032946_01
Initial pathology.
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F1
Both bone biopsy and hysterectomy indicated an oligo-metastatic uterine PEComa, without cervical involvement, with high-grade nuclear features and lymphovascular invasions (Figure 1).
NGS 400 genes.
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F2
Targeted NGS (52-cancer gene hotspot panel) detected no mutation but a heterozygous deletion of 9q34 that contains the TSC1 gene (Figure 2), prompting a first line everolimus treatment (10 mg 1x/day, po).
Response on pazopanib treatment.
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F3
With the combination of pazopanib (800 mg 1x/day po) and denosumab, there was regression of the subcutaneous disease and stability of lung and bone metastasis for over a year Figure 3.