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1. The pluripotency factor NANOG contributes to mesenchymal plasticity and is predictive for outcome in esophageal adenocarcinoma

Author

van der Zalm, Amber P., Dings, Mark P. G., Manoukian, Paul, Boersma, Hannah, Janssen, Reimer, Bailey, Peter, Koster, Jan, Zwijnenburg, Danny, Volckmann, Richard, Bootsma, Sanne, Waasdorp, Cynthia, van Mourik, Monique, Blangé, Dionne, van den Ende, Tom, Oyarce, César I., Derks, Sarah, Creemers, Aafke, Ebbing, Eva A., Hooijer, Gerrit K., Meijer, Sybren L., van Berge Henegouwen, Mark I., Medema, Jan Paul, van Laarhoven, Hanneke W. M., and Bijlsma, Maarten F.

Published
2024
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5. Estrogen-related receptor alpha drives mitochondrial biogenesis and resistance to neoadjuvant chemoradiation in esophageal cancer

Author

Dings, Mark P.G., van der Zalm, Amber P., Bootsma, Sanne, van Maanen, Tatum F.J., Waasdorp, Cynthia, van den Ende, Tom, Liu, Dajia, Bailey, Peter, Koster, Jan, Zwijnenburg, Danny A., Spek, C. Arnold, Klomp, Jan P.G., Oubrie, Arthur, Hooijer, Gerrit K.J., Meijer, Sybren L., van Berge Henegouwen, Mark I., Hulshof, Maarten C., Bergman, Jacques, Oyarce, Cesar, Medema, Jan Paul, van Laarhoven, Hanneke W.M., and Bijlsma, Maarten F.

Published
2022
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6. Nanopore-based consensus sequencing enables accurate multimodal tumor cell-free DNA profiling

Author

Chen, Li-Ting, primary, Jager, Myrthe, additional, Rebergen, Dàmi, additional, Brink, Geertruid J., additional, van den Ende, Tom, additional, Vanderlinden, Willem, additional, Kolbeck, Pauline, additional, Pagès-Gallego, Marc, additional, van der Pol, Ymke, additional, Besselink, Nicolle, additional, Moldovan, Norbert, additional, Hami, Nizar, additional, Kloosterman, Wigard, additional, van Laarhoven, Hanneke, additional, Mouliere, Florent, additional, Zweemer, Ronald, additional, Lipfert, Jan, additional, Derks, Sarah, additional, Marcozzi, Alessio, additional, and de Ridder, Jeroen, additional

Published
2024
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8. Multi-modal cell-free DNA genomic and fragmentomic patterns enhance cancer survival and recurrence analysis

Author

Moldovan, Norbert, primary, van der Pol, Ymke, additional, van den Ende, Tom, additional, Boers, Dries, additional, Verkuijlen, Sandra, additional, Creemers, Aafke, additional, Ramaker, Jip, additional, Vu, Trang, additional, Bootsma, Sanne, additional, Lenos, Kristiaan J., additional, Vermeulen, Louis, additional, Fransen, Marieke F., additional, Pegtel, Michiel, additional, Bahce, Idris, additional, van Laarhoven, Hanneke, additional, and Mouliere, Florent, additional

Published
2023
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9. High-dimensional single-cell proteomics analysis of esophageal squamous cell carcinoma reveals dynamic alterations of the tumor immune microenvironment after neoadjuvant therapy

Author

Han, Dingpei, primary, Han, Yichao, additional, Guo, Wei, additional, Wei, Wei, additional, Yang, Su, additional, Xiang, Jie, additional, Che, Jiaming, additional, Zhu, Lianggang, additional, Hang, Junbiao, additional, van den Ende, Tom, additional, van Laarhoven, Hanneke W M, additional, Li, Bin, additional, Ye, Youqiong, additional, and Li, Hecheng, additional

Published
2023
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11. Longitudinal immune monitoring of patients with resectable esophageal adenocarcinoma treated with Neoadjuvant PD-L1 checkpoint inhibition

Author

van den Ende, Tom, primary, Ezdoglian, Aiarpi, additional, Baas, Lisanne M., additional, Bakker, Joyce, additional, Lougheed, Sinéad M., additional, Harrasser, Micaela, additional, Waasdorp, Cynthia, additional, van Berge Henegouwen, Mark I., additional, Hulshof, Maarten C.C.M., additional, Haj Mohammad, Nadia, additional, van Hillegersberg, Richard, additional, Mook, Stella, additional, van der Laken, Conny J., additional, van Grieken, Nicole C.T., additional, Derks, Sarah, additional, Bijlsma, Maarten F., additional, van Laarhoven, Hanneke W.M., additional, and de Gruijl, Tanja D., additional

Published
2023
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12. Genome‐wide and panel‐based cell‐free DNA characterization of patients with resectable esophageal adenocarcinoma.

Author

van den Ende, Tom, van der Pol, Ymke, Creemers, Aafke, Moldovan, Norbert, Boers, Dries, van Berge Henegouwen, Mark I, Hulshof, Maarten CCM, Cillessen, Saskia AGM, van Grieken, Nicole CT, Pegtel, D Michiel, Derks, Sarah, Bijlsma, Maarten F, Mouliere, Florent, and van Laarhoven, Hanneke WM

Subjects
CELL-free DNA, CIRCULATING tumor DNA, NUCLEOTIDE sequencing, ADENOCARCINOMA, GENE frequency
Abstract

Circulating tumor DNA (ctDNA) holds promise in resectable esophageal adenocarcinoma (EAC) to predict patient outcome but is not yet sensitive enough to be clinically applicable. Our aim was to combine ctDNA mutation data with shallow whole‐genome sequencing (sWGS)‐derived copy number tumor fraction estimates (ichorCNA) to improve pathological response and survival prediction in EAC. In total, 111 stage II/III EAC patients with baseline (n = 111), post‐neoadjuvant chemoradiotherapy (nCRT) (n = 68), and pre‐surgery (n = 92) plasma samples were used for ctDNA characterization. sWGS (<5× coverage) was performed on all time‐point samples, and copy number aberrations were estimated using ichorCNA. Baseline and pre‐surgery samples were sequenced using a custom amplicon panel for mutation detection. Detection of baseline ctDNA was successful in 44.3% of patients by amplicon sequencing and 10.5% by ichorCNA. Combining both, ctDNA could be detected in 50.5% of patients. Baseline ctDNA positivity was related to higher T stage (cT3, 4) (p = 0.017). There was no relationship between pathological response and baseline ctDNA positivity. However, baseline ctDNA metrics (variant allele frequency > 1% or ichorCNA > 3%) were associated with a high risk of disease progression [HR = 2.23 (95% CI 1.22–4.07), p = 0.007]. The non‐clearance of a baseline variant or ichorCNA > 3% in pre‐surgery samples was related to early progression [HR = 4.58 (95% CI 2.22–9.46), p < 0.001]. Multi‐signal analysis improves detection of ctDNA and can be used for prognostication of resectable EAC patients. Future studies should explore the potential of multi‐modality sequencing for risk stratification and treatment adaptation based on ctDNA results. © 2023 The Authors. The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Figure S6. from Fecal Microbiota Transplantation from Overweight or Obese Donors in Cachectic Patients with Advanced Gastroesophageal Cancer: A Randomized, Double-blind, Placebo-Controlled, Phase II Study

Author

de Clercq, Nicolien C., primary, van den Ende, Tom, primary, Prodan, Andrei, primary, Hemke, Robert, primary, Davids, Mark, primary, Pedersen, Helle K., primary, Nielsen, Henrik B., primary, Groen, A.K., primary, de Vos, Willem M., primary, van Laarhoven, Hanneke W.M., primary, and Nieuwdorp, Max, primary

Published
2023
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14. Supplemental Tables 1-4 from Fecal Microbiota Transplantation from Overweight or Obese Donors in Cachectic Patients with Advanced Gastroesophageal Cancer: A Randomized, Double-blind, Placebo-Controlled, Phase II Study

Author

de Clercq, Nicolien C., primary, van den Ende, Tom, primary, Prodan, Andrei, primary, Hemke, Robert, primary, Davids, Mark, primary, Pedersen, Helle K., primary, Nielsen, Henrik B., primary, Groen, A.K., primary, de Vos, Willem M., primary, van Laarhoven, Hanneke W.M., primary, and Nieuwdorp, Max, primary

Published
2023
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15. Supplementary Data from Neoadjuvant Chemoradiotherapy Combined with Atezolizumab for Resectable Esophageal Adenocarcinoma: A Single-arm Phase II Feasibility Trial (PERFECT)

Author

van den Ende, Tom, primary, de Clercq, Nicolien C., primary, van Berge Henegouwen, Mark I., primary, Gisbertz, Suzanne S., primary, Geijsen, E.D., primary, Verhoeven, R.H.A., primary, Meijer, Sybren L., primary, Schokker, Sandor, primary, Dings, M.P.G., primary, Bergman, Jacques J.G.H.M., primary, Haj Mohammad, Nadia, primary, Ruurda, Jelle P., primary, van Hillegersberg, Richard, primary, Mook, Stella, primary, Nieuwdorp, Max, primary, de Gruijl, Tanja D., primary, Soeratram, Tanya T.D., primary, Ylstra, Bauke, primary, van Grieken, Nicole C.T., primary, Bijlsma, Maarten F., primary, Hulshof, Maarten C.C.M., primary, and van Laarhoven, H.W.M., primary

Published
2023
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16. Figure from Neoadjuvant Chemoradiotherapy Combined with Atezolizumab for Resectable Esophageal Adenocarcinoma: A Single-arm Phase II Feasibility Trial (PERFECT)

Author

van den Ende, Tom, primary, de Clercq, Nicolien C., primary, van Berge Henegouwen, Mark I., primary, Gisbertz, Suzanne S., primary, Geijsen, E.D., primary, Verhoeven, R.H.A., primary, Meijer, Sybren L., primary, Schokker, Sandor, primary, Dings, M.P.G., primary, Bergman, Jacques J.G.H.M., primary, Haj Mohammad, Nadia, primary, Ruurda, Jelle P., primary, van Hillegersberg, Richard, primary, Mook, Stella, primary, Nieuwdorp, Max, primary, de Gruijl, Tanja D., primary, Soeratram, Tanya T.D., primary, Ylstra, Bauke, primary, van Grieken, Nicole C.T., primary, Bijlsma, Maarten F., primary, Hulshof, Maarten C.C.M., primary, and van Laarhoven, H.W.M., primary

Published
2023
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17. Supplemental Materials from Fecal Microbiota Transplantation from Overweight or Obese Donors in Cachectic Patients with Advanced Gastroesophageal Cancer: A Randomized, Double-blind, Placebo-Controlled, Phase II Study

Author

de Clercq, Nicolien C., primary, van den Ende, Tom, primary, Prodan, Andrei, primary, Hemke, Robert, primary, Davids, Mark, primary, Pedersen, Helle K., primary, Nielsen, Henrik B., primary, Groen, A.K., primary, de Vos, Willem M., primary, van Laarhoven, Hanneke W.M., primary, and Nieuwdorp, Max, primary

Published
2023
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18. Outcome prediction in resectable esophageal adenocarcinoma based on clinical variables, radiomics, and ctDNA.

Author

van den Ende, Tom, primary, Kuijper, Steven C., additional, Widaatalla, Yousif, additional, Noortman, Wyanne A., additional, van Velden, Floris H.P., additional, Woodruff, Henry C., additional, van der Pol, Ymke, additional, Moldovan, Norbert, additional, Pegtel, D. Michiel, additional, Derks, Sarah, additional, Bijlsma, Maarten F., additional, Moulière, Florent, additional, de Geus-Oei, Lioe-Fee, additional, Lambin, Philippe, additional, and Van Laarhoven, Hanneke W.M., additional

Published
2023
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19. Genome-wide cell-free DNA termini in patients with cancer

Author

Moldovan, Norbert, primary, van der Pol, Ymke, additional, van den Ende, Tom, additional, Boers, Dries, additional, Verkuijlen, Sandra, additional, Creemers, Aafke, additional, Ramaker, Jip, additional, Vu, Trang, additional, Fransen, Marieke F., additional, Pegtel, Michiel, additional, Bahce, Idris, additional, van Laarhoven, Hanneke, additional, and Mouliere, Florent, additional

Published
2021
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21. Circulating tumor DNA (ctDNA) analysis by low-coverage whole genome sequencing (lcWGS) of resectable esophageal adenocarcinoma (rEAC) patients.

Author

van den Ende, Tom, primary, Creemers, Aafke, additional, van der Pol, Ymke, additional, Boers, Dries, additional, Van Berge Henegouwen, Mark I., additional, Gisbertz, Suzanne S., additional, Geijsen, E. Debby, additional, Hulshof, Maarten C.C.M., additional, Dijk, Frederike, additional, van Grieken, Nicole C.T., additional, Pegtel, D. Michiel, additional, Derks, Sarah, additional, Bijlsma, Maarten F., additional, Moulière, Florent, additional, and Van Laarhoven, Hanneke W.M., additional

Published
2021
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22. Fecal Microbiota Transplantation from Overweight or Obese Donors in Cachectic Patients with Advanced Gastroesophageal Cancer: A Randomized, Double-blind, Placebo-Controlled, Phase II Study

Author

de Clercq, Nicolien C., primary, van den Ende, Tom, additional, Prodan, Andrei, additional, Hemke, Robert, additional, Davids, Mark, additional, Pedersen, Helle K., additional, Nielsen, Henrik B., additional, Groen, A.K., additional, de Vos, Willem M., additional, van Laarhoven, Hanneke W.M., additional, and Nieuwdorp, Max, additional

Published
2021
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23. Neoadjuvant Chemoradiotherapy Combined with Atezolizumab for Resectable Esophageal Adenocarcinoma: A Single-arm Phase II Feasibility Trial (PERFECT)

Author

van den Ende, Tom, primary, de Clercq, Nicolien C., additional, van Berge Henegouwen, Mark I., additional, Gisbertz, Suzanne S., additional, Geijsen, E.D., additional, Verhoeven, R.H.A., additional, Meijer, Sybren L., additional, Schokker, Sandor, additional, Dings, M.P.G., additional, Bergman, Jacques J.G.H.M., additional, Haj Mohammad, Nadia, additional, Ruurda, Jelle P., additional, van Hillegersberg, Richard, additional, Mook, Stella, additional, Nieuwdorp, Max, additional, de Gruijl, Tanja D., additional, Soeratram, Tanya T.D., additional, Ylstra, Bauke, additional, van Grieken, Nicole C.T., additional, Bijlsma, Maarten F., additional, Hulshof, Maarten C.C.M., additional, and van Laarhoven, H.W.M., additional

Published
2021
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24. Intestinal and tumor microbiome analysis combined with metabolomics of the anti-PD-L1 phase II PERFECT trial for resectable esophageal adenocarcinoma.

Author

de Clercq, Nicolien C., primary, van den Ende, Tom, additional, Prodan, Andrei, additional, van Berge Henegouwen, Mark I., additional, Gisbertz, Suzanne S., additional, Meijer, Sybren L., additional, Schokker, Sandor, additional, Bergman, Jacques J.G.H.M., additional, Haj Mohammad, Nadia, additional, Ruurda, Jelle P., additional, van Hillegersberg, Richard, additional, Mook, Stella, additional, van Grieken, Nicole C.T., additional, de Gruijl, Tanja D., additional, Davids, Mark, additional, Bijlsma, Maarten F., additional, Hulshof, Maarten C.C.M., additional, Van Laarhoven, Hanneke W.M., additional, and Nieuwdorp, Max, additional

Published
2020
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26. Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Author

Van Den Ende, Tom, Sharifi, Sarvi, Van Der Salm, Sandra M.A., and Van Rootselaar, Anne-Fleur

Subjects
0303 health sciences, lcsh:Diseases of the musculoskeletal system, Reviews, cortical, Epilepsies, Myoclonic, tremor, lcsh:RC346-429, myoclonus, 3. Good health, FCMTE, 03 medical and health sciences, 0302 clinical medicine, Familial, Phenotype, Neurology, Autosomal dominant familial cortical myoclonic tremor and epilepsy, epilepsy, Humans, genetics, lcsh:RC925-935, lcsh:Neurology. Diseases of the nervous system, 030217 neurology & neurosurgery, 030304 developmental biology
Abstract

Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria. Results: Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. A “benign” phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). French patients (5p linkage; FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. Preferred treatment is with valproate (mind teratogenicity), levetiracetam, and/or clonazepam. Several genes have been identified, which differ in potential pathogenicity. Discussion: Based on the core features (above), the syndrome can be considered a distinct clinical entity. Clinical features may also include proximal myoclonus and mild progression with aging. Valproate or levetiracetam, with or without clonazepam, reduces symptoms. FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Distinct phenotypic traits might reflect different genetic mutations. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes., Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements

Published
2018

28. COMplot, A Graphical Presentation of Complication Profiles and Adverse Effects for the Curative Treatment of Gastric Cancer: A Systematic Review and Meta-Analysis

Author

van den Ende, Tom, primary, Abe Nijenhuis, Frank A., additional, van den Boorn, Héctor G., additional, ter Veer, Emil, additional, Hulshof, Maarten C. C. M., additional, Gisbertz, Suzanne S., additional, van Oijen, Martijn G. H., additional, and van Laarhoven, Hanneke W. M., additional

Published
2019
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29. A phase II feasibility trial of neoadjuvant chemoradiotherapy combined with atezolizumab for resectable esophageal adenocarcinoma: The PERFECT trial.

Author

van den Ende, Tom, primary, de Clercq, Nicolien C., additional, van Berge Henegouwen, Mark I., additional, Gisbertz, Suzanne S., additional, Meijer, Sybren L., additional, Schokker, Sandor, additional, Bergman, Jacques J.G.H.M., additional, Haj Mohammad, Nadia, additional, Ruurda, Jelle P., additional, van Hillegersberg, Richard, additional, Mook, Stella, additional, Nieuwdorp, Max, additional, Soeratram, Tanya T.D., additional, Ylstra, Bauke, additional, van Grieken, Nicole C.T., additional, de Gruijl, Tanja D., additional, Bijlsma, Maarten F., additional, Hulshof, Maarten C.C.M., additional, and Van Laarhoven, Hanneke W.M., additional

Published
2019
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32. Gastro-oesophageal junction: to FLOT or to CROSS?

Author

van den Ende, Tom, Hulshof, Maarten C. C. M., van Berge Henegouwen, Mark I., van Oijen, Martijn G. H., and van Laarhoven, Hanneke W. M.

Subjects
*CONFIDENCE intervals, *ESOPHAGEAL tumors, *FLUOROURACIL, *FOLINIC acid, *MEDICAL databases, *INFORMATION storage & retrieval systems, *MEDICAL information storage & retrieval systems, *MEDLINE, *META-analysis, *ONLINE information services, *PACLITAXEL, *STOMACH tumors, *DOCETAXEL, *SYSTEMATIC reviews, *OXALIPLATIN, *TREATMENT effectiveness, *PATIENTS' attitudes, *CARBOPLATIN, *ODDS ratio, *CHEMORADIOTHERAPY
Abstract

The authors discuss an exploratory network meta-analysis to indirectly compare FLOT and CROSS protocol for gastro-oesophageal junction. Highlights include subgroup analysis and node-split models, random effects network meta-analysis for overall survival, and the number of nodes created in the network based on compound similarity.

Published
2020
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36. Propriospinal myclonus.

Author

van der Salm, Sandra M. A., Erro, Roberto, Cordivari, Carla, Edwards, Mark J., Koelman, Johannes H. T. M., van den Ende, Tom, Bhatia, Kailash P., van Rootselaar, Anne-Fleur, Brown, Peter, and Tijssen, Marina A. J.

Published
2014

37. Prognostic and Predictive Factors for the Curative Treatment of Esophageal and Gastric Cancer in Randomized Controlled Trials: A Systematic Review and Meta-Analysis.

Author

van den Ende, Tom, ter Veer, Emil, Mali, Rosa M. A., van Berge Henegouwen, Mark I., Hulshof, Maarten C. C. M., van Oijen, Martijn G. H., and van Laarhoven, Hanneke W. M.

Subjects
*COMBINED modality therapy, *CONFERENCES & conventions, *ESOPHAGEAL tumors, *MEDICAL information storage & retrieval systems, *MEDLINE, *META-analysis, *ONLINE information services, *STOMACH tumors, *SYSTEMATIC reviews, *STATISTICAL significance, *PREDICTIVE validity, *PREDICTIVE tests
Abstract

Background: An overview of promising prognostic variables and predictive subgroups concerning the curative treatment of esophageal and gastric cancer from randomized controlled trials (RCTs) is lacking. Therefore, we conducted a systematic review and meta-analysis. Methods: PubMed, EMBASE, CENTRAL, and ASCO/ESMO conferences were searched up to March 2019 for RCTs on the curative treatment of esophageal or gastric cancer with data on prognostic and/or predictive factors for overall survival. Prognostic factors were deemed potentially clinically relevant according to the following criteria; (1) statistically significant (p < 0.05) in a multivariate analysis, (2) reported in at least 250 patients, and (3) p < 0.05, in ≥33% of the total number of patients in RCTs reporting this factor. Predictive factors were potentially clinically-relevant if (1) the p-value for interaction between subgroups was <0.20 and (2) the hazard ratio in one of the subgroups was significant (p < 0.05). Results: For gastric cancer, 39 RCTs were identified (n = 13,530 patients) and, for esophageal cancer, 33 RCTs were identified (n = 8618 patients). In total, we identified 23 potentially clinically relevant prognostic factors for gastric cancer and 16 for esophageal cancer. There were 15 potentially clinically relevant predictive factors for gastric cancer and 10 for esophageal cancer. Conclusion: The identified prognostic and predictive factors can be included and analyzed in future RCTs and be of guidance for nomograms. Further validation should be performed in large patient cohorts. [ABSTRACT FROM AUTHOR]

Published
2019
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38. Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Author

Van Den Ende, Tom, Sharifi, Sarvi, Van Der Salm, Sandra M. A., and Rootselaar, Anne-Fleur Van

Subjects
Myoclonus, Epilepsy, FOS: Biological sciences, Tremor, Genetics, Medicine, 3. Good health
Abstract

Background: Autosomal dominant familial cortical myoclonic tremor and epilepsy (FCMTE) is characterized by distal tremulous myoclonus, generalized seizures, and signs of cortical reflex myoclonus. FCMTE has been described in over 100 pedigrees worldwide, under several different names and acronyms. Pathological changes have been located in the cerebellum. This systematic review discusses the clinical spectrum, treatment, pathophysiology, and genetic findings. Methods: We carried out a PubMed search, using a combination of the following search terms: cortical tremor, myoclonus, epilepsy, benign course, adult onset, familial, and autosomal dominant; this resulted in a total of 77 studies (761 patients; 126 pedigrees) fulfilling the inclusion and exclusion criteria. Results: Phenotypic differences across pedigrees exist, possibly related to underlying genetic differences. A “benign” phenotype has been described in several Japanese families and pedigrees linked to 8q (FCMTE1). French patients (5p linkage; FCMTE3) exhibit more severe progression, and in Japanese/Chinese pedigrees (with unknown linkage) anticipation has been suggested. Preferred treatment is with valproate (mind teratogenicity), levetiracetam, and/or clonazepam. Several genes have been identified, which differ in potential pathogenicity. Discussion: Based on the core features (above), the syndrome can be considered a distinct clinical entity. Clinical features may also include proximal myoclonus and mild progression with aging. Valproate or levetiracetam, with or without clonazepam, reduces symptoms. FCMTE is a heterogeneous disorder, and likely to include a variety of different conditions with mutations of different genes. Distinct phenotypic traits might reflect different genetic mutations. Genes involved in Purkinje cell outgrowth or those encoding for ion channels or neurotransmitters seem good candidate genes.

39. Fecal, Duodenal and Tumor Microbiota Composition of Esophageal Carcinoma Patients, a Longitudinal Prospective Cohort.

Author

van den Ende T, de Clercq NC, Davids M, Goedegebuure R, Doeve BH, Ebrahimi G, Buijsen J, Hoekstra R, Mohammad NH, Bijlsma MF, Nieuwdorp M, and van Laarhoven HWM

Abstract

Background: The microbiome has been associated with chemotherapy and immune checkpoint inhibitor (ICI) efficacy. How this pertains to resectable esophageal carcinoma (EC) is unknown. Our aim was to identify microbial signatures in resectable EC associated with response to neoadjuvant chemoradiotherapy (nCRT) with or without ICI., Methods: From two prospectively collected EC cohorts (n = 172 in total) treated with nCRT alone (n = 132) or a combination of nCRT and ICI (n = 40), fecal samples were available at baseline, during treatment, and pre-surgery. Additionally, in the ICI treated patients, tumor and duodenal snap frozen biopsies were collected over time. Fecal, tumor and duodenal DNA were extracted for 16S rRNA sequencing. Associations were investigated between microbiome composition pathological complete response (pCR) and progression-free survival (PFS)., Results: There was a significant shift in the microbiota profile of the fecal, tumor and duodenal microbiota over time. In the total cohort, patients with a pCR had a stable fecal alpha diversity, while the diversity of poor responders decreased during treatment, p = 0.036. Pre-surgery, lower alpha diversity (<4.12) was related to worse PFS, log-rank p = 0.025. Baseline tumor biopsies of patients with short PFS had more Fusobacterium. A low baseline duodenal alpha diversity (<3.96) was associated with worse PFS, log-rank p = 0.012., Conclusions: Lower intestinal alpha diversity was associated with worse response and survival of EC patients. In tumor biopsies Fusobacterium was more abundant in patients with poor PFS. After further mechanistic validation, these findings may aid in response prediction and the design of novel microbiome modulating treatments for EC patients., (© The Author(s) 2024. Published by Oxford University Press.)

Published
2024
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