Case ReportsMutational profile in circulating tumor DNA in a patient affected by low-risk endometrial cancer: predictable tool of relapse?Malentacchi, Francescaa,,*; Turrini, Irenea,,*; Zepponi, Francescaa; Fantappiè, Giuliaa; Sorbi, Flaviaa; Antonuzzo, Lorenzob; Fambrini, Massimilianoa; Noci, Ivoa; Pillozzi, Serenab,,cAuthor Information aDepartment of Clinical, Experimental and Biomedical Sciences “Mario Serio”, University of Florence, Florence bClinical Oncology Unit,, Careggi University Hospital, Florence cDIVAL Toscana Srl, Florence, Italy *Francesca Malentacchi and Irene Turrini contributed equally to the writing of this article. Received 6 April 2020 Revised form accepted 24 May 2020 Correspondence to Francesca Malentacchi, PhD, Department of Clinical, Experimental and Biomedical Sciences “Mario Serio”, University of Florence, Viale G.B.Morgagni 50 Florence 50134, Italy, Tel: +390552751288; fax: +390552751300; e-mail: [email protected] Anti-Cancer Drugs: November 2020 - Volume 31 - Issue 10 - p 1091-1095 doi: 10.1097/CAD.0000000000000963 Buy Metrics Abstract Endometrial cancer is the commonest gynecological cancer, the majority is endometrioid type, diagnosed at an early stage with 69–88% 5-year survival. Low-grade endometrial cancers have low recurrence rates and often do not receive adjuvant therapy; however, a subset of these patients will have poor outcomes and would benefit from adjuvant treatment has been challenging. We evaluate the circulating cell-free DNA (ccfDNA) in a patient with low-risk endometrial cancer in order to identify the presence of molecular markers associated with risk of recurrence. The evaluation of mutation profile was performed by next-generation sequencing (NGS) in primary tumor formalin-fixed paraffin-embedded (FFPE) tissue and in circulating tumor DNA (ctDNA). We identified a specific mutational profile in ctDNA, different from primary tumor tissue suggesting that the clone involved in the relapse may be different in comparison to the most represented in the primary tumor. These findings open new prospective and new wonderings. The molecular characterization of tissue may be useful for setting new target personalized therapy even in the treatment of endometrial cancer, moreover, endometrial cancer at low risk should be not underestimated for the incidence of relapse, and for this evaluation the molecular characterization may be useful. Moreover, these results suggest that the single analysis of primary tumors may be not sufficient for setting a specific personalized therapy targeted to avoid the relapse but may be necessary to join the molecular characterization of liquid biopsy to primary tissue. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.