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Next-Generation Sequencing Finds Theoretically Traceable Alterations in Rare and Ultra Rare Cancers

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Patients with rare and ultra-rare cancers may have limited therapeutic options, but a study that sequenced paired DNA and RNA from 286 patients with rare tumor diagnoses found that most had traceable alterations, with some having actionable mutations. The study also found that not all DNA alterations were observed at the RNA level, indicating a potential silencing at the RNA level.

Rare and ultra-rare tumors assessed included bone and soft tissue sarcomas, oral and throat cancers, cholangiocarcinoma, and thymus, adrenal, and ampulla of Vater carcinomas. All patients had at least one alteration, with 79.0% (n=226) having at least 1 characterized alteration. Among those with characterized alterations, 74.3% (n=168) had at least 1 potentially actionable target with an FDA-approved agent or investigational drug).

Read more here.


Okamura R, Kato S, Parulkar R, et al. Genomic landscape of diverse rare tumors: Next-generation sequencing of paired DNA and RNA analysis. Presented at: 2018 American Society of Clinical Oncology; June 1-5, 2018; Chicago, Illinois. Abstract 12114.

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