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Seppälä, T. T.

Publications and source records attributed to Seppälä, T. T..

3 recordsLinked to original sources

Sustained epithelial interferon signaling modulates incomplete pathologic response in colorectal cancer

Background & AimsPatients with colorectal cancer have heterogeneous clinical responses to chemotherapy, although clinical guidelines advise little variability in treatment selection based on molecular tumor features. Precision oncology research typically utilizes patient-derived tumor organoids (PDTO) to predict clinical outcomes, but such efforts are often not directed towards identification of molecular factors underlying differential responses to therapy. MethodsBulk RNA-sequencing was performed on treatment-naive PDTOs, and gene expression data was combined to drug sensitivity data to identify transcriptomic features associated with low in vitro sensitivity to chemotherapy. Whole-exome sequencing was performed on primary tumors to infer the somatic mutations of PDTOs and used to identify somatic mutations associated with differential in vitro drug responses. Publicly available gene expression and drug sensitivity data sets were used to validate the results. RNA interference was used for functional validation. ResultsPDTOs with low chemosensitivity had high JAK-STAT pathway activity resulting from high expression of interferon-stimulated genes. Evidence from single-cell RNA-sequencing confirmed chemotherapy-induced expression of interferon-stimulated genes in epithelial cells of cancers with partial response. EPSTI1 knockdown decreased cancer cell viability and sensitized cells to chemotherapy. ConclusionsSustained interferon signaling in epithelial cancer cells contributes to incomplete pathologic response in colorectal cancer. The findings highlight the potential of JAK-STAT inhibition or TRAIL pathway activation to enhance chemotherapy efficacy. Future studies investigating pharmacologic modulation of these pathways in preclinical CRC models are needed to determine their viability as therapeutic targets.

cancer biology↗

Constrained hypermutation and absence of TERT promoter mutations in Lynch syndrome-associated urothelial cancer

Lynch syndrome (LS) is a hereditary condition characterized by defective DNA mismatch repair (MMR) and high incidence of several cancers, including urothelial cancers (UC) of the upper urinary tract and bladder. We set out to study the somatic landscape of LS-associated urothelial cancer (LS-UC) by analyzing 41 surgical tumor samples and 3 urine DNA samples from 34 LS-UC patients. We show that telomerase reverse transcriptase (TERT) promoter mutations found in 83% of sporadic UC are almost completely absent (5%) in LS-UC (p < 0.00001). Instead, all LS-UC carried a 5-methylcytosine deamination (CG>TG) and microsatellite instability driven mutation landscape characterized by highly frequent ARID1A (82%), FGFR3 (80%), and KMT2D (78%) mutations, as well as preferential usage of CG>TG mutation hotspots. We propose that the scarcity of TERT promoter mutations in LS-UC is due to inability to create the necessary GABP binding motif (5-GGAA) through CG>TG mutation or microsatellite instability. Our data shows that LS-UC represents a disease entity with unique genomic characteristics.

cancer biology↗

Systemic circulating microRNA landscape in Lynch syndrome

MicroRNAs (miRs) are non-coding RNA-molecules that regulate gene expression. Global circulating miR (c-miR) expression patterns (c-miRnome) change with carcinogenesis in various sporadic cancers. Therefore, aberrantly expressed c-miRs could have diagnostic, predictive and prognostic potential in molecular profiling of cancers. c-miR functions in carriers of inherited pathogenic mismatch-repair gene variants (path_MMR), also known as Lynch syndrome (LS), have remained understudied. LS cohort provides an ideal population for biomarker mining due to increased lifelong cancer risk and excessive cancer occurrence. Using high-throughput sequencing and bioinformatic approaches, we conducted an exploratory analysis to characterize systemic c-miRnomes of path_MMR carriers. Our discovery cohort included 81 healthy path_MMR carriers and 37 non-LS controls. Our analysis also included cancer cohort comprised of 13 path_MMR carriers with varying cancers and 24 sporadic rectal cancer patients. We showed for the first time that c-miRnome can discern healthy path_MMR carriers from non-LS controls but does not distinguish healthy path_MMR carriers from cancer patients with or without path_MMR. Our c-miR expression analysis combined with in silico tools suggest ongoing alterations of biological pathways shared in LS and sporadic carcinogenesis. We observed that these alterations can produce a c-miR signature which can be used to track oncogenic stress in cancer-free path_MMR carriers. Thus, c-miRs hold potential in monitoring which cancer patients would require more intensive surveillance or clinical management. SignificanceC-miRnome can discern between healthy persons with or without path_MMR but does not distinguish healthy path_MMR carriers from cancer patients with or without path_MMR, indicating an ongoing alteration of biological pathways that can be used to track oncogenic stress at cancer-free state.

cancer biology↗