Dialog Box

ESMO Sarcoma and Rare Cancers Congress 2023: Genomics in Rare Cancer

ESMO attendees were treated to the results from 2 fantastic studies from Spain investigating genomic signatures in sinonasal cancers (SNCs), neuroendocrine tumours (NETs) and neuroendocrine carcinomas  (NECs).

Using whole genome sequencing on 96 patients with different SNC subtypes, the SNC investigation discovered distinct genetic profiles in seven subtypes of SNC. Mutations in TP53, NOTCH and FANCA, and FGFR1 amplifications were common to most subtypes, while the different SNC subtypes had recurrent subtype-unique mutations.

Importantly for patients, these genetic profiles indicate that PARP and EZH1/2 inhibitors may be effective against all subtypes and suggest that PI3K/mTOR inhibitors and MEK inhibitors could be a potential therapy for intestinal-type adenocarcinoma. The profiles also indicate that EGFR, FGFR or CDK4/6 inhibitors could be used in the treatment of squamous cell carcinoma.

Read more about this fascinating presentation here.

The second Spanish study used next-generation sequencing to identify potential therapeutic targets for neuroendocrine neoplasms.  Sequencing of 40 NETs found a median tumour mutational burden (TMB) of 3.46 (range 0–35) and identified frequent mutations in MEN1, DAXX, DNMT3a and SMAD4. Sequencing of 32 NECs identified a median TMB of 4.45 (range 0–35) and found common mutations in TP53, RB, MYC, KRAS, APC, SMAD4 and FGFR1–4.

Survival analysis indicated KRAS, MYC and TP53 mutations and a high TMB were associated with worse outcome, and offer hope for prognostic and therapeutic pathways.

14 April 2023
Category: News