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Doe-Tetteh, Seyram A.; Camp, Sabrina Y.; Reales, Dalicia; Crowdis, Jett; Noronha, Anne Marie; Wolff, Bernadette; Alano, Tina; Galle, Jesse; Selcuklu, S. Duygu; Viale, Agnes; Socci, Nicholas D.; Liu, Ying L.; Tew, William P.; Aghajanian, Carol; Ladanyi, Marc; He, Meng Xiao; AlDubayan, Saud H.; Mazor, Roei David; Shpilberg, Ofer; Hershkovitz-Rokah, Oshrat; Riancho, Jose A.; Hernandez, Jose L.; Gonzalez-Vela, M. Carmen; Buthorn, Justin J.; [...]

Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach

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  • Medientyp: E-Artikel
  • Titel: Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach
  • Beteiligte: Doe-Tetteh, Seyram A.; Camp, Sabrina Y.; Reales, Dalicia; Crowdis, Jett; Noronha, Anne Marie; Wolff, Bernadette; Alano, Tina; Galle, Jesse; Selcuklu, S. Duygu; Viale, Agnes; Socci, Nicholas D.; Liu, Ying L.; Tew, William P.; Aghajanian, Carol; Ladanyi, Marc; He, Meng Xiao; AlDubayan, Saud H.; Mazor, Roei David; Shpilberg, Ofer; Hershkovitz-Rokah, Oshrat; Riancho, Jose A.; Hernandez, Jose L.; Gonzalez-Vela, M. Carmen; Buthorn, Justin J.; [...]
  • Erschienen: American Association for Cancer Research (AACR), 2023
  • Erschienen in: Clinical Cancer Research
  • Sprache: Englisch
  • DOI: 10.1158/1078-0432.ccr-22-3247
  • ISSN: 1078-0432; 1557-3265
  • Schlagwörter: Cancer Research ; Oncology
  • Entstehung:
  • Anmerkungen:
  • Beschreibung: <jats:title>Abstract</jats:title> <jats:sec> <jats:title>Purpose:</jats:title> <jats:p>To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes.</jats:p> </jats:sec> <jats:sec> <jats:title>Experimental Design:</jats:title> <jats:p>Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation sequencing assay with the return of results to patients and their local physicians. Whole-exome recapture was performed for female patients with GCTs to define the genomic landscape of this rare cancer subtype.</jats:p> </jats:sec> <jats:sec> <jats:title>Results:</jats:title> <jats:p>A total of 333 patients were enrolled, and tumor tissue was received for 288 (86.4%), with 250 (86.8%) having tumor DNA of sufficient quality for MSK-IMPACT testing. Eighteen patients with histiocytosis have received genomically guided therapy to date, of whom 17 (94%) have had clinical benefit with a mean treatment duration of 21.7 months (range, 6–40+). Whole-exome sequencing of ovarian GCTs identified a subset with haploid genotypes, a phenotype rarely observed in other cancer types. Actionable genomic alterations were rare in ovarian GCT (28%); however, 2 patients with ovarian GCTs with squamous transformation had high tumor mutational burden, one of whom had a complete response to pembrolizumab.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions:</jats:title> <jats:p>Direct-to-patient outreach can facilitate the assembly of cohorts of rare cancers of sufficient size to define their genomic landscape. By profiling tumors in a clinical laboratory, results could be reported to patients and their local physicians to guide treatment.</jats:p> <jats:p>See related commentary by Desai and Subbiah, p. 2339</jats:p> </jats:sec>