Gene Profiling and Therapy: What's the Future? A Case Report of Uterine Leiomyosarcoma

Background: Uterine leiomyosarcomas (uLMS), although rare (3%-7% of all uterine malignancies), represent an important share of mortality due to uterine pathology. Surgery is the cornerstone of treatment but the lack of data from randomized clinical trials makes the function of adjuvant therapy still nebulous. For these reasons, the treatment of the uLMS is still a challenge in progress.Case presentation: We report the case of 72-years old woman who underwent several lines of therapy. After systemic disease progression, was subjected to a genetic test that showed a mutation of CDKN2A. Basing on these results, the patient started Palbociclib, which is still ongoing.Conclusion: The choice of drug was based on the presence of the patient’s specific mutation and not on therapeutic options recommended by guidelines. In this woman, heavily pretreated, Palbociclib showed the stability of disease at the first re-evaluation with an acceptable safety profile and no signs of cumulative toxicity