Gene Profiling and Therapy: What's the Future? A Case Report of Uterine Leiomyosarcoma Alessia Re ¹ , Anna Rita Alitto ² , Ciro Mazzarella ² , Francesco Catucci ² , Antonella Martino ¹* , Giovanna Mantini ¹ and Giovanni Palazzoni ¹ ¹ Istituto di Radiologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica Sacro Cuore, Rome, Italy 2 Area Radioterapia Oncologica, Dipartimento di Diagnostica per immagini, Radioterapia Oncologica ed Ematologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy * Corresponding author: Antonella Martino, Istituto di Radiologia, Fondazione Policlinico Universitario A. Gemelli IRCCS Università Cattolica Sacro Cuore, Rome, Italy, Tel: +39 0630154981; E-mail: antonella.martino7@gmail.com Received date: February 11, 2019; Accepted date: February 15, 2019; Published date: February 22, 2019 Copyright: © 2019 Alessia Re, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Abstract 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. Keywords: Uterine ; Hysterectomy; Ovary Introduction Uterine leiomyosarcomas (uLMS), arising from the myometrium, represent the most common type of uterine sarcoma, with poor prognosis. Tey account for approximately 3%-7% of all uterine malignancies [1] and are characterized by an early hematogenous spread and a high rate of distant metastasis, located especially in lungs, even in the absence of lymph nodes involvement [2,3]. Metastatic disease diagnosis is ofen delayed and made afer hysterectomy. Te defnition of a clear therapeutic approach is limited by the rarity of the disease and, consequently, the lack of randomized studies. Hysterectomy is currently the therapeutic cornerstone. Adjuvant radiotherapy seems to have had an advantage in the local control but not in the OS [4]. Also, the role of systemic therapy is not well defned, although it is still used for the high tendency to relapse, that it stands around 50%-70% [5]. As in other diseases, the fnal aim of uLMS treatment is to fnd molecular targets for new potential drugs [6]. Te most frequent mutation found in uLMS are growth factors over-expression as C-MYC, Bcl-2, K-ras, and Ki-67, and loses in tumor suppressors as p16, p53, Rb1, ING2 and D14S267 [6]. However, multiple genetic aberrations and very complex karyotypes make difcult to identify molecular targets and can facilitate the refractoriness to subsequently treatment lines. In this context, where traditional therapies turned out to be inefective, a new approach resulted in fundamental. We present the case of a heavily pre-treated metastatic uLMS patient that, because of previous lines failure and not tolerated side efects, underwent DNA sequencing, to evaluate a targeted therapy. Case Presentation Tis is the case of a 72 years old patient, with a previous non- oncological history of arterial hypertension, bronchial asthma, and hypercholesterolemia. A pelvic mass was shown in December 2008 and she was subjected to histeroannessectomy. Histological examination revealed a leiomyosarcoma of the uterine wall with epithelioid aspects, a maximum diameter of 4.7 cm and a mitotic index>10/10 HPF. Vascular invasion and metastasis were present in the right ovary. From February 2009 to July of the same year, six cycles of Doxorubicin 50 mg/mq and Ifosfamide 5 g/mq, as adjuvant systemic therapy, were administered. Ten regular follow-ups were performed. In October 2012 a CT scan demonstrated multiple pulmonary metastases and 2 cm lef breast nodular lesion correlated to uLMS. Terefore, it was started a second line chemotherapy with Gemcitabine 900 mg/mq 1°, 8° and Docetaxel 100 mg/mq 8° q21 with poor response, so in March 2013 this treatment was stopped, and a new-one Trabectedin based was started (Trabectedin 1.7 mg/mq q21). Te CT scan performed in October 2013 showed the stability of all lesions except one, localized in the apical segment of the LID. Te G y ne c o l o g y & O b s t e t r i c s ISSN: 2161-0932 Gynecology & Obstetrics Alessia et al., Gynecol Obstet (Sunnyvale) 2019, 9:2 DOI: 10.4172/2161-0932.1000498 Research Article Open Access Gynecol Obstet (Sunnyvale), an open access journal ISSN:2161-0932 Volume 9 • Issue 2 • 1000498