TY - JOUR AU - Ferreira, Elisa Napolitano AU - Barros, Bruna Durães Figueiredo AU - de Souza, Jorge Estefano AU - Almeida, Renan Valieris AU - Torrezan, Giovana Tardin AU - Garcia, Sheila AU - Krepischi, Ana Cristina Victorino AU - Mello, Celso Abdon Lopes de AU - Cunha, Isabela Werneck da AU - Pinto, Clóvis Antonio Lopes AU - Soares, Fernando Augusto AU - Dias-Neto, Emmanuel AU - Lopes, Ademar AU - de Souza, Sandro José AU - Carraro, Dirce Maria PY - 2016 DA - 2016/11/18 TI - A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease JO - Human Genomics SP - 36 VL - 10 IS - 1 AB - Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor. Here, we present a comprehensive genomic profiling of one DSRCT affecting a 26-year-old male, who achieved an excellent outcome. SN - 1479-7364 UR - https://doi.org/10.1186/s40246-016-0092-0 DO - 10.1186/s40246-016-0092-0 ID - Ferreira2016 ER -