aggressive desmoplastic small round cell tumor in an adult a case report and literature review

Original title: “Aggressive Desmoplastic Small Round Cell Tumor in an Adult: A Case Report and Literature Review.”

This reflects challenges common ... clinical trials – issues that are particularly pronounced in rare cancers like DSRCT52. Nonetheless, we successfully acted on several findings, and the disease control rate of 62% in this heavily pretreated population indicates that a rational, biology-guided approach to this disease may confer meaningful clinical benefit. To further quantify therapeutic efficacy, ... This reflects challenges common to precision oncology programs, including limited off-label access to targeted agents and a scarcity of molecularly stratified clinical trials – issues that are particularly pronounced in rare cancers like DSRCT52. Nonetheless, we successfully acted on several findings, and the disease control rate of 62% in this heavily pretreated population indicates that a rational, biology-guided approach to this disease may confer meaningful clinical benefit. To further quantify therapeutic efficacy, we calculated the intra-patient PFSr, a widely used endpoint in precision oncology53. Desmoplastic small round cell tumor (DSRCT) is an ultra-rare sarcoma with limited treatment options. Here, we show that comprehensive molecular profiling informs diagnosis and individualized therapy in this disease. We report the results of whole-genome/exome, transcriptome, and DNA methylome analyses performed in 30 refractory DSRCT patients, complemented by (phospho)proteomic profiling in nine, within a nationwide precision oncology program. Desmoplastic small round cell tumor (DSRCT), a very rare and understudied sarcoma, presents serious challenges for both diagnosis and treatment. Here, the authors employ multi-omics profiling on 30 refractory DSRCT patients to improve the diagnosis and identify potentially actionable targets for individualized DSRCT treatment. The MTB provided four treatment recommendations based on increased target gene expression: (i) small-molecule inhibition of FGFR4, KDR, and MERTK, e.g., with pazopanib, (ii) participation in a clinical trial of CAR T cells against CLDN6 (NCT04503278), (iii) SSTR3-targeted PRRT, and (iv) ERBB2-directed therapy (Fig. 2b and Supplementary Dataset 2). Following the revised diagnosis, the patient was treated with pazopanib but showed disease progression after three months.

Original title: “Multi-layered molecular profiling informs the diagnosis and targeted therapy of desmoplastic small round cell tumor | Nature Communications”

desmoplastic small round blue cell tumor in a young adult man a rare case of abdominal sarcoma

Original title: “Desmoplastic Small Round Blue Cell Tumor in a Young Adult Man: A Rare Case of Abdominal Sarcoma.”