Cell-free DNA profiling in retinoblastoma patients with advanced intraocular disease: An MSKCC experience.
Prachi KothariFrancesco MarassJulie L YangCaitlin M StewartDennis StephensJuber PatelMaysun HasanXiaohong JingFanli MengJeanette EnriquezKety HubermanAgnes VialeJasmine H FrancisMichael F BergerNeerav ShuklaDavid H AbramsonIra J DunkelDana Wai Yi TsuiPublished in: Cancer medicine (2020)
Plasma cfDNA can detect somatic RB1 mutations in patients with unilateral retinoblastoma. Since intraocular biopsies are avoided in these patients because of concern about spreading tumor, cfDNA can potentially offer a noninvasive platform to guide clinical decisions about treatment, follow-up schemes, and risk of metastasis.