Publications by authors named "Katarzyna O Sikora"

Article Synopsis
  • - The rise in diagnoses of pancreatic neuroendocrine tumors (PanNETs) is largely due to improved detection methods, posing new challenges for treatment management.
  • - Whole-genome sequencing of 102 primary PanNETs revealed key genomic events, including a mutation in the MUTYH gene that impairs DNA repair, which is linked to several germline mutations found in 17% of patients.
  • - Somatic mutations affecting genes related to chromatin remodeling, DNA repair, mTOR signaling, and telomere maintenance were common, and some tumors exhibited unique characteristics associated with hypoxia and HIF signaling.
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Next-generation sequencing (NGS) was applied to 148 lung neuroendocrine tumours (LNETs) comprising the four World Health Organization classification categories: 53 typical carcinoid (TCs), 35 atypical carcinoid (ACs), 27 large-cell neuroendocrine carcinomas, and 33 small-cell lung carcinomas. A discovery screen was conducted on 46 samples by the use of whole-exome sequencing and high-coverage targeted sequencing of 418 genes. Eighty-eight recurrently mutated genes from both the discovery screen and current literature were verified in the 46 cases of the discovery screen, and validated on additional 102 LNETs by targeted NGS; their prevalence was then evaluated on the whole series.

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Background: Detection of molecular tumor heterogeneity has become of paramount importance with the advent of targeted therapies. Analysis for detection should be comprehensive, timely and based on routinely available tumor samples.

Aim: To evaluate the diagnostic potential of targeted multigene next-generation sequencing (TM-NGS) in characterizing gastrointestinal cancer molecular heterogeneity.

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The recognition that colorectal cancer (CRC) is a heterogeneous disease in terms of clinical behaviour and response to therapy translates into an urgent need for robust molecular disease subclassifiers that can explain this heterogeneity beyond current parameters (MSI, KRAS, BRAF). Attempts to fill this gap are emerging. The Cancer Genome Atlas (TGCA) reported two main CRC groups, based on the incidence and spectrum of mutated genes, and another paper reported an EMT expression signature defined subgroup.

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