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Precision Medicine in Abdominal Cancers

Publications

2024

  1. Møller, P, Seppälä, TT, Dominguez-Valentin, M, Sampson, J. Commentary on . J Med Genet. 2024; :. doi: 10.1136/jmg-2024-110385. PubMed PMID:39375027 .
  2. Wirta, EV, Elomaa, H, Ahtiainen, M, Hyöty, M, Seppälä, TT, Kuopio, T et al.. The impact of preoperative treatments on the immune environment of rectal cancer. APMIS. 2024; :. doi: 10.1111/apm.13467. PubMed PMID:39253758 .
  3. Nicolson, NG, Tandurella, JA, Wu, LW, Patel, J, Morris, E, Seppälä, TT et al.. Patient-derived Organoid Pharmacotyping As A Predictive Tool for Therapeutic Selection in Pancreatic Ductal Adenocarcinoma. Ann Surg. 2024; :. doi: 10.1097/SLA.0000000000006517. PubMed PMID:39229726 .
  4. Kastinen, M, Sirniö, P, Elomaa, H, Äijälä, VK, Karjalainen, H, Tapiainen, VV et al.. Establishing Criteria for Tumor Necrosis as Prognostic Indicator in Colorectal Cancer. Am J Surg Pathol. 2024;48 (10):1284-1292. doi: 10.1097/PAS.0000000000002286. PubMed PMID:39004843 PubMed Central PMC11404753.
  5. Sipilä, LJ, Aavikko, M, Ravantti, J, Martin, S, Kuopio, T, Lahtinen, L et al.. Detection of a major Lynch Syndrome-causing MLH1 founder variant in a large-scale genotyped cohort. Fam Cancer. 2024;23 (4):647-652. doi: 10.1007/s10689-024-00400-4. PubMed PMID:38847920 PubMed Central PMC11512911.
  6. Kubota, CS, Myers, SL, Seppälä, TT, Burkhart, RA, Espenshade, PJ. In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency. Mol Metab. 2024;85 :101964. doi: 10.1016/j.molmet.2024.101964. PubMed PMID:38823776 PubMed Central PMC11217740.
  7. Wirta, EV, Szeto, S, Koppatz, H, Nordin, A, Mäkisalo, H, Arola, J et al.. High immune cell infiltration predicts improved survival in cholangiocarcinoma. Front Oncol. 2024;14 :1333926. doi: 10.3389/fonc.2024.1333926. PubMed PMID:38751812 PubMed Central PMC11094285.
  8. Kubota, CS, Myers, SL, Seppälä, TT, Burkhart, RA, Espenshade, PJ. In vivo CRISPR screening identifies geranylgeranyl diphosphate as a pancreatic cancer tumor growth dependency. bioRxiv. 2024; :. doi: 10.1101/2024.05.03.592368. PubMed PMID:38746286 PubMed Central PMC11092789.
  9. Zaffaroni, G, Mannucci, A, Koskenvuo, L, de Lacy, B, Maffioli, A, Bisseling, T et al.. Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision. Br J Surg. 2024;111 (5):. doi: 10.1093/bjs/znae070. PubMed PMID:38722804 PubMed Central PMC11081080.
  10. Guinn, S, Kinny-Köster, B, Tandurella, JA, Mitchell, JT, Sidiropoulos, DN, Loth, M et al.. Transfer Learning Reveals Cancer-Associated Fibroblasts Are Associated with Epithelial-Mesenchymal Transition and Inflammation in Cancer Cells in Pancreatic Ductal Adenocarcinoma. Cancer Res. 2024;84 (9):1517-1533. doi: 10.1158/0008-5472.CAN-23-1660. PubMed PMID:38587552 PubMed Central PMC11065624.
  11. Sievänen, T, Jokela, T, Hyvärinen, M, Korhonen, TM, Pylvänäinen, K, Mecklin, JP et al.. Circulating miRNA Signature Predicts Cancer Incidence in Lynch Syndrome-A Pilot Study. Cancer Prev Res (Phila). 2024;17 (6):243-254. doi: 10.1158/1940-6207.CAPR-23-0368. PubMed PMID:38551987 PubMed Central PMC11148538.
  12. Karjula, T, Elomaa, H, Väyrynen, SA, Kuopio, T, Ahtiainen, M, Mustonen, O et al.. Multiplexed analysis of macrophage polarisation in pulmonary metastases of microsatellite stable colorectal cancer. Cancer Immunol Immunother. 2024;73 (3):59. doi: 10.1007/s00262-024-03646-0. PubMed PMID:38386105 PubMed Central PMC10884151.
  13. Elomaa, H, Härkönen, J, Väyrynen, SA, Ahtiainen, M, Ogino, S, Nowak, JA et al.. Quantitative Multiplexed Analysis of Indoleamine 2,3-Dioxygenase (IDO) and Arginase-1 (ARG1) Expression and Myeloid Cell Infiltration in Colorectal Cancer. Mod Pathol. 2024;37 (4):100450. doi: 10.1016/j.modpat.2024.100450. PubMed PMID:38369188 .
  14. Jokela, TA, Karppinen, JE, Kärkkäinen, M, Mecklin, JP, Walker, S, Seppälä, TT et al.. Circulating metabolome landscape in Lynch syndrome. Cancer Metab. 2024;12 (1):4. doi: 10.1186/s40170-024-00331-9. PubMed PMID:38317210 PubMed Central PMC10840166.
  15. Tamlander, M, Jermy, B, Seppälä, TT, Färkkilä, M, FinnGen, Widén, E et al.. Genome-wide polygenic risk scores for colorectal cancer have implications for risk-based screening. Br J Cancer. 2024;130 (4):651-659. doi: 10.1038/s41416-023-02536-z. PubMed PMID:38172535 PubMed Central PMC10876651.

Search PubMed

2023

  1. Møller, P, Seppälä, TT, Ahadova, A, Crosbie, EJ, Holinski-Feder, E, Scott, R et al.. Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes – an EHTG, PLSD position statement. Hered Cancer Clin Pract. 2023;21 (1):19. doi: 10.1186/s13053-023-00263-3. PubMed PMID:37821984 PubMed Central PMC10568908.
  2. Bernstein, I, Therkildsen, C, Seppälä, TT. Editorial: Identification, risk stratification, and optimized management for Lynch Syndrome. Front Oncol. 2023;13 :1223568. doi: 10.3389/fonc.2023.1223568. PubMed PMID:37361579 PubMed Central PMC10287170.
  3. Karjula, T, Niskakangas, A, Mustonen, O, Puro, I, Elomaa, H, Ahtiainen, M et al.. Tertiary lymphoid structures in pulmonary metastases of microsatellite stable colorectal cancer. Virchows Arch. 2023;483 (1):21-32. doi: 10.1007/s00428-023-03577-8. PubMed PMID:37337034 PubMed Central PMC10326136.
  4. Dominguez-Valentin, M, Haupt, S, Seppälä, TT, Sampson, JR, Sunde, L, Bernstein, I et al.. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database. EClinicalMedicine. 2023;58 :101909. doi: 10.1016/j.eclinm.2023.101909. PubMed PMID:37181409 PubMed Central PMC10166779.
  5. Seppälä, TT, Burkhart, RA, Katona, BW. Hereditary colorectal, gastric, and pancreatic cancer: comprehensive review. BJS Open. 2023;7 (3):. doi: 10.1093/bjsopen/zrad023. PubMed PMID:37165697 PubMed Central PMC10172688.
  6. Kastinen, M, Sirniö, P, Elomaa, H, Ahtiainen, M, Väyrynen, SA, Herzig, KH et al.. Immunological and prognostic significance of tumour necrosis in colorectal cancer. Br J Cancer. 2023;128 (12):2218-2226. doi: 10.1038/s41416-023-02258-2. PubMed PMID:37031328 PubMed Central PMC10241859.
  7. Elomaa, H, Ahtiainen, M, Väyrynen, SA, Ogino, S, Nowak, JA, Lau, MC et al.. Spatially resolved multimarker evaluation of CD274 (PD-L1)/PDCD1 (PD-1) immune checkpoint expression and macrophage polarisation in colorectal cancer. Br J Cancer. 2023;128 (11):2104-2115. doi: 10.1038/s41416-023-02238-6. PubMed PMID:37002343 PubMed Central PMC10205752.
  8. Kansikas, M, Vähätalo, L, Kantelinen, J, Kasela, M, Putula, J, Døhlen, A et al.. Tumor-independent Detection of Inherited Mismatch Repair Deficiency for the Diagnosis of Lynch Syndrome with High Specificity and Sensitivity. Cancer Res Commun. 2023;3 (3):361-370. doi: 10.1158/2767-9764.CRC-22-0384. PubMed PMID:36875157 PubMed Central PMC9979712.
  9. Karjula, T, Kemi, N, Niskakangas, A, Mustonen, O, Puro, I, Pohjanen, VM et al.. The prognostic role of tumor budding and tumor-stroma ratio in pulmonary metastasis of colorectal carcinoma. Eur J Surg Oncol. 2023;49 (7):1298-1306. doi: 10.1016/j.ejso.2023.02.009. PubMed PMID:36841693 .
  10. Zalevskaja, K, Mecklin, JP, Seppälä, TT. Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: A retrospective analysis from the Finnish National Lynch Syndrome Research Registry. Front Oncol. 2023;13 :1123901. doi: 10.3389/fonc.2023.1123901. PubMed PMID:36816932 PubMed Central PMC9929148.
  11. Peltomäki, P, Nyström, M, Mecklin, JP, Seppälä, TT. Lynch Syndrome Genetics and Clinical Implications. Gastroenterology. 2023;164 (5):783-799. doi: 10.1053/j.gastro.2022.08.058. PubMed PMID:36706841 .
  12. Cavestro, GM, Mannucci, A, Balaguer, F, Hampel, H, Kupfer, SS, Repici, A et al.. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol. 2023;21 (3):581-603.e33. doi: 10.1016/j.cgh.2022.12.006. PubMed PMID:36549470 PubMed Central PMC11207185.
  13. Sievänen, T, Korhonen, TM, Jokela, T, Ahtiainen, M, Lahtinen, L, Kuopio, T et al.. Systemic circulating microRNA landscape in Lynch syndrome. Int J Cancer. 2023;152 (5):932-944. doi: 10.1002/ijc.34338. PubMed PMID:36282188 PubMed Central PMC10092425.
  14. Witt, J, Haupt, S, Ahadova, A, Bohaumilitzky, L, Fuchs, V, Ballhausen, A et al.. A simple approach for detecting HLA-A*02 alleles in archival formalin-fixed paraffin-embedded tissue samples and an application example for studying cancer immunoediting. HLA. 2023;101 (1):24-33. doi: 10.1111/tan.14846. PubMed PMID:36251018 .

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2022

  1. Karjula, T, Elomaa, H, Niskakangas, A, Mustonen, O, Puro, I, Kuopio, T et al.. CD3 and CD8 T-Cell-Based Immune Cell Score and PD-(L)1 Expression in Pulmonary Metastases of Microsatellite Stable Colorectal Cancer. Cancers (Basel). 2022;15 (1):. doi: 10.3390/cancers15010206. PubMed PMID:36612204 PubMed Central PMC9818882.
  2. Cavestro, GM, Mannucci, A, Balaguer, F, Hampel, H, Kupfer, SS, Repici, A et al.. Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol. 2023;21 (3):581-603.e33. doi: 10.1016/j.cgh.2022.12.006. PubMed PMID:36549470 .
  3. Sievänen, T, Korhonen, TM, Jokela, T, Ahtiainen, M, Lahtinen, L, Kuopio, T et al.. Systemic circulating microRNA landscape in Lynch syndrome. Int J Cancer. 2023;152 (5):932-944. doi: 10.1002/ijc.34338. PubMed PMID:36282188 PubMed Central PMC10092425.
  4. Witt, J, Haupt, S, Ahadova, A, Bohaumilitzky, L, Fuchs, V, Ballhausen, A et al.. A simple approach for detecting HLA-A*02 alleles in archival formalin-fixed paraffin-embedded tissue samples and an application example for studying cancer immunoediting. HLA. 2023;101 (1):24-33. doi: 10.1111/tan.14846. PubMed PMID:36251018 .
  5. Mathers, JC, Elliott, F, Macrae, F, Mecklin, JP, Möslein, G, McRonald, FE et al.. Cancer Prevention with Resistant Starch in Lynch Syndrome Patients in the CAPP2-Randomized Placebo Controlled Trial: Planned 10-Year Follow-up. Cancer Prev Res (Phila). 2022;15 (9):623-634. doi: 10.1158/1940-6207.CAPR-22-0044. PubMed PMID:35878732 PubMed Central PMC9433960.
  6. Elomaa, H, Ahtiainen, M, Väyrynen, SA, Ogino, S, Nowak, JA, Friman, M et al.. Prognostic significance of spatial and density analysis of T lymphocytes in colorectal cancer. Br J Cancer. 2022;127 (3):514-523. doi: 10.1038/s41416-022-01822-6. PubMed PMID:35449453 PubMed Central PMC9345858.
  7. Seppälä, TT, Zimmerman, JW, Suri, R, Zlomke, H, Ivey, GD, Szabolcs, A et al.. Precision Medicine in Pancreatic Cancer: Patient-Derived Organoid Pharmacotyping Is a Predictive Biomarker of Clinical Treatment Response. Clin Cancer Res. 2022;28 (15):3296-3307. doi: 10.1158/1078-0432.CCR-21-4165. PubMed PMID:35363262 PubMed Central PMC9357072.
  8. Lehtonen, TM, Koskenvuo, LE, Seppälä, TT, Lepistö, AH. The prognostic value of extramural venous invasion in preoperative MRI of rectal cancer patients. Colorectal Dis. 2022;24 (6):737-746. doi: 10.1111/codi.16103. PubMed PMID:35218137 PubMed Central PMC9314139.
  9. Dominguez-Valentin, M, Sampson, JR, Seppälä, TT, Møller, P. Response to Chambuso et al. Genet Med. 2022;24 (5):1151. doi: 10.1016/j.gim.2022.01.005. PubMed PMID:35216900 .
  10. Bohaumilitzky, L, Kluck, K, Hüneburg, R, Gallon, R, Nattermann, J, Kirchner, M et al.. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology. 2022;162 (3):907-919.e10. doi: 10.1053/j.gastro.2021.11.029. PubMed PMID:34863788 .
  11. Seppälä, TT, Zimmerman, JW, Burkhart, RA. Solving for Chemotherapeutic Sensitivity: Adapting “Black Box” Methods to Study Patient-Derived Tumor Organoids. Ann Surg Oncol. 2022;29 (1):4-6. doi: 10.1245/s10434-021-11003-z. PubMed PMID:34709493 PubMed Central PMC8826844.

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2021

  1. Bohaumilitzky, L, Kluck, K, Hüneburg, R, Gallon, R, Nattermann, J, Kirchner, M et al.. The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients. Gastroenterology. 2022;162 (3):907-919.e10. doi: 10.1053/j.gastro.2021.11.029. PubMed PMID:34863788 .
  2. Seppälä, TT, Zimmerman, JW, Burkhart, RA. Solving for Chemotherapeutic Sensitivity: Adapting “Black Box” Methods to Study Patient-Derived Tumor Organoids. Ann Surg Oncol. 2022;29 (1):4-6. doi: 10.1245/s10434-021-11003-z. PubMed PMID:34709493 PubMed Central PMC8826844.
  3. Mäki-Nevala, S, Ukwattage, S, Wirta, EV, Ahtiainen, M, Ristimäki, A, Seppälä, TT et al.. Immunoprofiles and DNA Methylation of Inflammatory Marker Genes in Ulcerative Colitis-Associated Colorectal Tumorigenesis. Biomolecules. 2021;11 (10):. doi: 10.3390/biom11101440. PubMed PMID:34680073 PubMed Central PMC8533626.
  4. Møller, P, Sampson, JR, Dominguez-Valentin, M, Seppälä, TT. Towards evidence-based personalised precision medicine for Lynch syndrome. Lancet Oncol. 2021;22 (9):e383. doi: 10.1016/S1470-2045(21)00400-9. PubMed PMID:34478667 .
  5. Seppälä, TT, Burkhart, RA. Can Pancreatic Organoids Help in the Treatment of Pancreatic Cancer?. Adv Surg. 2021;55 :215-229. doi: 10.1016/j.yasu.2021.05.015. PubMed PMID:34389093 PubMed Central PMC8830736.
  6. Ahadova, A, Pfuderer, PL, Ahtiainen, M, Ballhausen, A, Bohaumilitzky, L, Kösegi, S et al.. Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance. J Clin Med. 2021;10 (11):. doi: 10.3390/jcm10112458. PubMed PMID:34206061 PubMed Central PMC8198627.
  7. Dominguez-Valentin, M, Plazzer, JP, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA et al.. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study. J Clin Med. 2021;10 (13):. doi: 10.3390/jcm10132856. PubMed PMID:34203177 PubMed Central PMC8269121.
  8. International Mismatch Repair Consortium. Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. Lancet Oncol. 2021;22 (7):1014-1022. doi: 10.1016/S1470-2045(21)00189-3. PubMed PMID:34111421 PubMed Central PMC8934577.
  9. Seppälä, TT, Latchford, A, Negoi, I, Sampaio Soares, A, Jimenez-Rodriguez, R, Sánchez-Guillén, L et al.. European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender. Br J Surg. 2021;108 (5):484-498. doi: 10.1002/bjs.11902. PubMed PMID:34043773 PubMed Central PMC10364896.
  10. Rajamäki, K, Taira, A, Katainen, R, Välimäki, N, Kuosmanen, A, Plaketti, RM et al.. Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer. Gastroenterology. 2021;161 (2):592-607. doi: 10.1053/j.gastro.2021.04.042. PubMed PMID:33930428 .
  11. Sievänen, T, Törmäkangas, T, Laakkonen, EK, Mecklin, JP, Pylvänäinen, K, Seppälä, TT et al.. Body Weight, Physical Activity, and Risk of Cancer in Lynch Syndrome. Cancers (Basel). 2021;13 (8):. doi: 10.3390/cancers13081849. PubMed PMID:33924417 PubMed Central PMC8069994.
  12. Kellokumpu, I, Kairaluoma, M, Mecklin, JP, Kellokumpu, H, Väyrynen, V, Wirta, EV et al.. Impact of Age and Comorbidity on Multimodal Management and Survival from Colorectal Cancer: A Population-Based Study. J Clin Med. 2021;10 (8):. doi: 10.3390/jcm10081751. PubMed PMID:33920665 PubMed Central PMC8073362.
  13. Ahtiainen, M, Elomaa, H, Väyrynen, JP, Wirta, EV, Kuopio, T, Helminen, O et al.. Immune Contexture of MMR-Proficient Primary Colorectal Cancer and Matched Liver and Lung Metastases. Cancers (Basel). 2021;13 (7):. doi: 10.3390/cancers13071530. PubMed PMID:33810354 PubMed Central PMC8037224.
  14. Seppälä, TT, Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F et al.. Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Eur J Cancer. 2021;148 :124-133. doi: 10.1016/j.ejca.2021.02.022. PubMed PMID:33743481 PubMed Central PMC8916840.
  15. Dominguez-Valentin, M, Crosbie, EJ, Engel, C, Aretz, S, Macrae, F, Winship, I et al.. Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report. Genet Med. 2021;23 (4):705-712. doi: 10.1038/s41436-020-01029-1. PubMed PMID:33257847 PubMed Central PMC8026395.
  16. Dominguez-Valentin, M, Sampson, JR, Møller, P, Seppälä, TT, PLSD Collaborators. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum. Int J Cancer. 2021;148 (2):512-513. doi: 10.1002/ijc.33214. PubMed PMID:32783184 .
  17. Ahadova, A, Seppälä, TT, Engel, C, Gallon, R, Burn, J, Holinski-Feder, E et al.. The “unnatural” history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance. Int J Cancer. 2021;148 (4):800-811. doi: 10.1002/ijc.33224. PubMed PMID:32683684 .
  18. Seppälä, TT, Dominguez-Valentin, M, Sampson, JR, Møller, P. Prospective observational data informs understanding and future management of Lynch syndrome: insights from the Prospective Lynch Syndrome Database (PLSD). Fam Cancer. 2021;20 (1):35-39. doi: 10.1007/s10689-020-00193-2. PubMed PMID:32507935 PubMed Central PMC7870755.

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