Search

Your search keyword '"Waanders, Esme"' showing total 37 results
Start Over Author "Waanders, Esme"
37 results on '"Waanders, Esme"'

1. European standard clinical practice – Key issues for the medical care of individuals with familial leukemia

Author

Förster, Alisa, Davenport, Claudia, Duployez, Nicolas, Erlacher, Miriam, Ferster, Alina, Fitzgibbon, Jude, Göhring, Gudrun, Hasle, Henrik, Jongmans, Marjolijn C., Kolenova, Alexandra, Kronnie, Geertruijte, Lammens, Tim, Mecucci, Cristina, Mlynarski, Wojciech, Niemeyer, Charlotte M., Sole, Francesc, Szczepanski, Tomasz, Waanders, Esmé, Biondi, Andrea, Wlodarski, Marcin, Schlegelberger, Brigitte, and Ripperger, Tim

Published
2023
Full Text
View/download PDF

2. Clonal evolution mechanisms in NT5C2 mutant-relapsed acute lymphoblastic leukaemia.

Author

Tzoneva, Gannie, Dieck, Chelsea L, Oshima, Koichi, Ambesi-Impiombato, Alberto, Sánchez-Martín, Marta, Madubata, Chioma J, Khiabanian, Hossein, Yu, Jiangyan, Waanders, Esme, Iacobucci, Ilaria, Sulis, Maria Luisa, Kato, Motohiro, Koh, Katsuyoshi, Paganin, Maddalena, Basso, Giuseppe, Gastier-Foster, Julie M, Loh, Mignon L, Kirschner-Schwabe, Renate, Mullighan, Charles G, Rabadan, Raul, and Ferrando, Adolfo A

Subjects
Animals, Humans, Mice, Disease Models, Animal, Recurrence, Purines, 5'-Nucleotidase, IMP Dehydrogenase, Guanosine, Xenograft Model Antitumor Assays, Cell Proliferation, Drug Resistance, Neoplasm, Mutation, Female, Male, Receptor, Notch1, Precursor Cell Lymphoblastic Leukemia-Lymphoma, HEK293 Cells, Clonal Evolution, Gain of Function Mutation, Mercaptopurine, 5-Nucleotidase, Disease Models, Animal, Drug Resistance, Neoplasm, Receptor, Notch1, General Science & Technology
Abstract

Relapsed acute lymphoblastic leukaemia (ALL) is associated with resistance to chemotherapy and poor prognosis. Gain-of-function mutations in the 5'-nucleotidase, cytosolic II (NT5C2) gene induce resistance to 6-mercaptopurine and are selectively present in relapsed ALL. Yet, the mechanisms involved in NT5C2 mutation-driven clonal evolution during the initiation of leukaemia, disease progression and relapse remain unknown. Here we use a conditional-and-inducible leukaemia model to demonstrate that expression of NT5C2(R367Q), a highly prevalent relapsed-ALL NT5C2 mutation, induces resistance to chemotherapy with 6-mercaptopurine at the cost of impaired leukaemia cell growth and leukaemia-initiating cell activity. The loss-of-fitness phenotype of NT5C2+/R367Q mutant cells is associated with excess export of purines to the extracellular space and depletion of the intracellular purine-nucleotide pool. Consequently, blocking guanosine synthesis by inhibition of inosine-5'-monophosphate dehydrogenase (IMPDH) induced increased cytotoxicity against NT5C2-mutant leukaemia lymphoblasts. These results identify the fitness cost of NT5C2 mutation and resistance to chemotherapy as key evolutionary drivers that shape clonal evolution in relapsed ALL and support a role for IMPDH inhibition in the treatment of ALL.

Published
2018

3. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

Author

Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., Molenaar, Jan J., Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Center of Experimental and Molecular Medicine, Oncogenomics, and CCA - Cancer Treatment and Quality of Life

Subjects
Cancer Research, Adolescent, Molecular biology, Precision medicine, High-Throughput Nucleotide Sequencing, Medical Oncology, Hereditary, Oncology, Neoplasms, Mutation, Exome Sequencing, Next-generation sequencing, Humans, Molecular targeted therapy, Prospective Studies, Child, Cancer
Abstract

iTHER is a Dutch prospective national precision oncology program aiming to define tumour molecular profiles in children and adolescents with primary very high-risk, relapsed, or refractory paediatric tumours. Between April 2017 and April 2021, 302 samples from 253 patients were included. Comprehensive molecular profiling including low-coverage whole genome sequencing (lcWGS), whole exome sequencing (WES), RNA sequencing (RNA-seq), Affymetrix, and/or 850k methylation profiling was successfully performed for 226 samples with at least 20% tumour content. Germline pathogenic variants were identified in 16% of patients (35/219), of which 22 variants were judged causative for a cancer predisposition syndrome. At least one somatic alteration was detected in 204 (90.3%), and 185 (81.9%) were considered druggable, with clinical priority very high (6.1%), high (21.3%), moderate (26.0%), intermediate (36.1%), and borderline (10.5%) priority. iTHER led to revision or refinement of diagnosis in 8 patients (3.5%). Temporal heterogeneity was observed in paired samples of 15 patients, indicating the value of sequential analyses. Of 137 patients with follow-up beyond twelve months, 21 molecularly matched treatments were applied in 19 patients (13.9%), with clinical benefit in few. Most relevant barriers to not applying targeted therapies included poor performance status, as well as limited access to drugs within clinical trial. iTHER demonstrates the feasibility of comprehensive molecular profiling across all ages, tumour types and stages in paediatric cancers, informing of diagnostic, prognostic, and targetable alterations as well as reportable germline variants. Therefore, WES and RNA-seq is nowadays standard clinical care at the Princess Máxima Center for all children with cancer, including patients at primary diagnosis. Improved access to innovative treatments within biology-driven combination trials is required to ultimately improve survival.

Published
2022

6. A Novel Germline PAX5 Single Exon Deletion in a Paediatric Patient with B-Cell Leukaemia

Author

van Engelen, Nienke, primary, Roest, Merel A., additional, van Dijk, Freerk, additional, Sonneveld, Edwin, additional, Bladergroen, Reno, additional, van Reijmersdal, Simon, additional, van der Velden, Vincent H.J., additional, Hoogeveen, Patricia G., additional, Kors, W.A., additional, Waanders, Esme, additional, Kuiper, Roland P., additional, and Jongmans, Marjolijn C.J., additional

Published
2022
Full Text
View/download PDF

7. Independent prognostic value of BCR-ABL1-like signature and IKZF1 deletion, but not high CRLF2 expression, in children with B-cell precursor ALL

Author

van der Veer, Arian, Waanders, Esmé, Pieters, Rob, Willemse, Marieke E., Van Reijmersdal, Simon V., Russell, Lisa J., Harrison, Christine J., Evans, William E., van der Velden, Vincent H.J., Hoogerbrugge, Peter M., Van Leeuwen, Frank, Escherich, Gabriele, Horstmann, Martin A., Mohammadi Khankahdani, Leila, Rizopoulos, Dimitris, De Groot-Kruseman, Hester A., Sonneveld, Edwin, Kuiper, Roland P., and Den Boer, Monique L.

Published
2013
Full Text
View/download PDF

8. Characteristics of white blood cell count in acute lymphoblastic leukemia : A COST LEGEND phenotype-genotype study

Author

Helenius, Marianne, Vaitkeviciene, Goda, Abrahamsson, Jonas, Jonsson, Olafur Gisli, Lund, Bendik, Harila-Saari, Arja H., Vettenranta, Kim, Mikkel, Sirje, Stanulla, Martin, Lopez-Lopez, Elixabet, Waanders, Esme, Madsen, Hans O., Marquart, Hanne Vibeke, Modvig, Signe, Gupta, Ramneek, Schmiegelow, Kjeld, Nielsen, Rikke Linnemann, Helenius, Marianne, Vaitkeviciene, Goda, Abrahamsson, Jonas, Jonsson, Olafur Gisli, Lund, Bendik, Harila-Saari, Arja H., Vettenranta, Kim, Mikkel, Sirje, Stanulla, Martin, Lopez-Lopez, Elixabet, Waanders, Esme, Madsen, Hans O., Marquart, Hanne Vibeke, Modvig, Signe, Gupta, Ramneek, Schmiegelow, Kjeld, and Nielsen, Rikke Linnemann

Abstract

Background White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well-known prognostic factor in acute lymphoblastic leukemia (ALL), but its biology, including impact of host genome variants, is poorly understood. Methods We included patients treated with the Nordic Society of Paediatric Haematology and Oncology (NOPHO) ALL-2008 protocol (N = 2347, 72% were genotyped by Illumina Omni2.5exome-8-Bead chip) aged 1-45 years, diagnosed with B-cell precursor (BCP-) or T-cell ALL (T-ALL) to investigate the variation in WBC. Spline functions of WBC were fitted correcting for association with age across ALL subgroups of immunophenotypes and karyotypes. The residuals between spline WBC and actual WBC were used to identify WBC-associated germline genetic variants in a genome-wide association study (GWAS) while adjusting for age and ALL subtype associations. Results We observed an overall inverse correlation between age and WBC, which was stronger for the selected patient subgroups of immunophenotype and karyotypes (rho(BCP-ALL )= -.17, rho(T-ALL )= -.19; p < 3 x 10(-4)). Spline functions fitted to age, immunophenotype, and karyotype explained WBC variation better than age alone (rho = .43, p << 2 x 10(-6)). However, when the spline-adjusted WBC residuals were used as phenotype, no GWAS significant associations were found. Based on available annotation, the top 50 genetic variants suggested effects on signal transduction, translation initiation, cell development, and proliferation. Conclusion These results indicate that host genome variants do not strongly influence WBC across ALL subsets, and future studies of why some patients are more prone to hyperleukocytosis should be performed within specific ALL subsets that apply more complex analyses to capture potential germline variant interactions and impact on WBC.

Published
2022
Full Text
View/download PDF

9. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program ‘iTHER’

Author

Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., Molenaar, Jan J., Dep Scheikunde, Afd Pharmaceutics, Pharmaceutics, Langenberg, Karin P.S., Meister, Michael T., Bakhuizen, Jette J., Boer, Judith M., van Eijkelenburg, Natasha K.A., Hulleman, Esther, Ilan, Uri, Looze, Eleonora J., Dierselhuis, Miranda P., van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G., Ober, Kimberley, van Hooff, Sander R., Scheijde-Vermeulen, Marijn A., Hiemcke-Jiwa, Laura S., Flucke, Uta E., Kranendonk, Mariette E.G., Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T.P., Volckmann, Richard, Hehir-Kwa, Jayne Y., Kester, Lennart A., Koudijs, Marco M.J., Waanders, Esme, Holstege, Frank C.P., Vormoor, H. Josef, Hoving, Eelco W., van Noesel, Max M., Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P., Van Tilburg, Cornelis M., Jones, Barbara C., Jones, David T.W., Witt, Olaf, Pfister, Stefan M., Jongmans, Marjolijn C.J., Kuiper, Roland P., de Krijger, Ronald R., Wijnen, Marc H.W., den Boer, Monique L., Zwaan, C. Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B.J., Goemans, Bianca F., and Molenaar, Jan J.

Published
2022

10. Implementation of paediatric precision oncology into clinical practice: The Individualized Therapies for Children with cancer program 'iTHER'

Author

Genetica Oper.Mang. Clinical Genetics, Cancer, PMC Medisch specialisten, Arts-assistenten Kinderen, Groep Holstege, Pathologie Pathologen staf, Pathologie Groep Van Diest, Brain, Hematologie ICAT, Infection & Immunity, CDL Cluster Onderzoek en Onderwijs, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, Onderzoek Beeld, Child Health, Neurochirurgen, Zorg en O&O, Genetica Klinische Genetica, Genetica, Zorgeenheid Kinderchirurgie Medisch, Speerpunt, CMM, Langenberg, Karin P S, Meister, Michael T, Bakhuizen, Jette J, Boer, Judith M, van Eijkelenburg, Natasha K A, Hulleman, Esther, Ilan, Uri, Looze, Eleonora J, Dierselhuis, Miranda P, van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G, Ober, Kimberley, van Hooff, Sander R, Scheijde-Vermeulen, Marijn A, Hiemcke-Jiwa, Laura S, Flucke, Uta E, Kranendonk, Mariette E G, Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T P, Volckmann, Richard, Hehir-Kwa, Jayne Y, Kester, Lennart A, Koudijs, Marco M J, Waanders, Esme, Holstege, Frank C P, Vormoor, H Josef, Hoving, Eelco W, van Noesel, Max M, Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P, Van Tilburg, Cornelis M, Jones, Barbara C, Jones, David T W, Witt, Olaf, Pfister, Stefan M, Jongmans, Marjolijn C J, Kuiper, Roland P, de Krijger, Ronald R, Wijnen, Marc H W, den Boer, Monique L, Zwaan, C Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B J, Goemans, Bianca F, Molenaar, Jan J, Genetica Oper.Mang. Clinical Genetics, Cancer, PMC Medisch specialisten, Arts-assistenten Kinderen, Groep Holstege, Pathologie Pathologen staf, Pathologie Groep Van Diest, Brain, Hematologie ICAT, Infection & Immunity, CDL Cluster Onderzoek en Onderwijs, Pathologie Moleculair, Genetica Sectie Genoomdiagnostiek, Onderzoek Beeld, Child Health, Neurochirurgen, Zorg en O&O, Genetica Klinische Genetica, Genetica, Zorgeenheid Kinderchirurgie Medisch, Speerpunt, CMM, Langenberg, Karin P S, Meister, Michael T, Bakhuizen, Jette J, Boer, Judith M, van Eijkelenburg, Natasha K A, Hulleman, Esther, Ilan, Uri, Looze, Eleonora J, Dierselhuis, Miranda P, van der Lugt, Jasper, Breunis, Willemijn, Schild, Linda G, Ober, Kimberley, van Hooff, Sander R, Scheijde-Vermeulen, Marijn A, Hiemcke-Jiwa, Laura S, Flucke, Uta E, Kranendonk, Mariette E G, Wesseling, Pieter, Sonneveld, Edwin, Punt, Simone, Boltjes, Arjan, van Dijk, Freerk, Verwiel, Eugene T P, Volckmann, Richard, Hehir-Kwa, Jayne Y, Kester, Lennart A, Koudijs, Marco M J, Waanders, Esme, Holstege, Frank C P, Vormoor, H Josef, Hoving, Eelco W, van Noesel, Max M, Pieters, Rob, Kool, Marcel, Stumpf, Miriam, Blattner-Johnson, Mirjam, Balasubramanian, Gnana P, Van Tilburg, Cornelis M, Jones, Barbara C, Jones, David T W, Witt, Olaf, Pfister, Stefan M, Jongmans, Marjolijn C J, Kuiper, Roland P, de Krijger, Ronald R, Wijnen, Marc H W, den Boer, Monique L, Zwaan, C Michel, Kemmeren, Patrick, Koster, Jan, Tops, Bastiaan B J, Goemans, Bianca F, and Molenaar, Jan J

Published
2022

12. Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Author

Antic, Zeljko, Yu, J., Reijmersdal, S.V. van, Dijk, A.H.A. van, Dekker, Linde, Segerink, Wouter H., Leeuwen, Frank N. van, Geurts van Kessel, A.H.M., Waanders, Esme, Kuiper, R.P., Antic, Zeljko, Yu, J., Reijmersdal, S.V. van, Dijk, A.H.A. van, Dekker, Linde, Segerink, Wouter H., Leeuwen, Frank N. van, Geurts van Kessel, A.H.M., Waanders, Esme, and Kuiper, R.P.

Abstract

Contains fulltext : 242555.pdf (Publisher’s version ) (Open Access)

Published
2021

14. Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Author

Antić, Željko, primary, Yu, Jiangyan, additional, Van Reijmersdal, Simon V., additional, Van Dijk, Anke, additional, Dekker, Linde, additional, Segerink, Wouter H., additional, Sonneveld, Edwin, additional, Fiocco, Marta, additional, Pieters, Rob, additional, Hoogerbrugge, Peter M., additional, Van Leeuwen, Frank N., additional, Van Kessel, Ad Geurts, additional, Waanders, Esme, additional, and Kuiper, Roland P., additional

Published
2020
Full Text
View/download PDF

15. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J. Waanders, Esme Ligtenberg, Marjolijn J. van Bladel, Diede A. G. Kamping, Eveline J. Hoogerbrugge, Peter M. and Hopman, Saskia Olderode-Berends, Maran J. Gerkes, Erica H. and Koolen, David A. Marcelis, Carlo Santen, Gijs W. van Belzen, Martine J. Mordaunt, Dylan McGregor, Lesley and Thompson, Elizabeth Kattamis, Antonis Pastorczak, Agata and Mlynarski, Wojciech Ilencikova, Denisa Vulto-van Silfhout, Anneke Gardeitchik, Thatjana de Bont, Eveline S. Loeffen, Jan Wagner, Anja Mensenkamp, Arjen R. Kuiper, Roland P. and Hoogerbrugge, Nicoline Jongmans, Marjolijn C.

Abstract

Purpose: In many children with cancer and characteristics suggestive of a genetic predisposition syndrome, the genetic cause is still unknown. We studied the yield of pathogenic mutations by applying whole-exome sequencing on a selected cohort of children with cancer. Experimental Design: To identify mutations in known and novel cancer-predisposing genes, we performed trio-based whole-exome sequencing on germline DNA of 40 selected children and their parents. These children were diagnosed with cancer and had at least one of the following features: (1) intellectual disability and/or congenital anomalies, (2) multiple malignancies, (3) family history of cancer, or (4) an adult type of cancer. We first analyzed the sequence data for germline mutations in 146 known cancer-predisposing genes. If no causative mutation was found, the analysis was extended to the whole exome. Results: Four patients carried causative mutations in a known cancer-predisposing gene: TP53 and DICER1 (n = 3). In another 4 patients, exome sequencing revealed mutations causing syndromes that might have contributed to the malignancy (EP300-based Rubinstein-Taybi syndrome, ARID1A-based Coffin-Siris syndrome, ACTB-based Baraitser-Winter syndrome, and EZH2-based Weaver syndrome). In addition, we identified two genes, KDM3B and TYK2, which are possibly involved in genetic cancer predisposition. Conclusions: In our selected cohort of patients, pathogenic germline mutations causative or likely causative of the cancer phenotype were found in 8 patients, and two possible novel cancer-predisposing genes were identified. Therewith, our study shows the added value of sequencing beyond a cancer gene panel in selected patients, to recognize childhood cancer predisposition. (C) 2018 AACR.

Published
2018

16. Genetic Analysis of B-Cell Acute Lymphoblastic Leukemia Dissemination to the Central Nervous System Identifies Clonal Selection and Therapeutic Vulnerability

Author

Vanner, Robert, primary, Dobson, Stephanie M., additional, Grandal, Ildiko, additional, Gan, Olga I., additional, McLeod, Jessica, additional, Kennedy, James, additional, Voisin, Veronique, additional, Guidos, Cynthia, additional, Danska, Jayne S., additional, Waanders, Esme, additional, Minden, Mark D., additional, Mullighan, Charles G., additional, and Dick, John E., additional

Published
2018
Full Text
View/download PDF

17. Relapse-Initiating Clones Preexisting at Diagnosis in B- Cell Acute Lymphoblastic Leukemia Help Predict Molecular Pathways of Relapse

Author

Garcia Prat, Laura, primary, Dobson, Stephanie M., additional, Chan-Seng-Yue, Michelle, additional, Vanner, Robert, additional, Murison, Alex, additional, Wintersinger, Jeffery, additional, Waanders, Esme, additional, Gan, Olga I., additional, McLeod, Jessica, additional, Payne-Turner, Debbie, additional, Edmonson, Michael, additional, Gu, Zhaohui, additional, Ma, Xiaotu, additional, Fan, Yiping, additional, Gupta, Pankaj, additional, Rusch, Michael, additional, Shao, Ying, additional, Easton, John, additional, Zhang, Jinghui, additional, Minden, Mark D., additional, Morris, Quaid, additional, Lupien, Mathieu, additional, Mullighan, Charles G., additional, and Dick, John E., additional

Published
2018
Full Text
View/download PDF

18. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Diets, Illja J., Waanders, Esme, Ligtenberg, Marjolijn J., van Bladel, Diede A.G., Kamping, Eveline J., Hoogerbrugge, Peter M., Hopman, Saskia, Olderode-Berends, Maran J., Gerkes, Erica H., Koolen, David A., Marcelis, Carlo, Santen, Gijs W., van Belzen, Martine J., Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, Vulto-Van Silfhout, Anneke, Gardeitchik, Thatjana, de Bont, Eveline S., Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R., Kuiper, Roland P., Hoogerbrugge, Nicoline, Jongmans, Marjolijn C., Diets, Illja J., Waanders, Esme, Ligtenberg, Marjolijn J., van Bladel, Diede A.G., Kamping, Eveline J., Hoogerbrugge, Peter M., Hopman, Saskia, Olderode-Berends, Maran J., Gerkes, Erica H., Koolen, David A., Marcelis, Carlo, Santen, Gijs W., van Belzen, Martine J., Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, Vulto-Van Silfhout, Anneke, Gardeitchik, Thatjana, de Bont, Eveline S., Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R., Kuiper, Roland P., Hoogerbrugge, Nicoline, and Jongmans, Marjolijn C.

Published
2018

19. High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer

Author

Genetica Sectie Genoomdiagnostiek, PMC Medisch specialisten, Genetica, Genetica Klinische Genetica, Child Health, Cancer, Diets, Illja J., Waanders, Esme, Ligtenberg, Marjolijn J., van Bladel, Diede A.G., Kamping, Eveline J., Hoogerbrugge, Peter M., Hopman, Saskia, Olderode-Berends, Maran J., Gerkes, Erica H., Koolen, David A., Marcelis, Carlo, Santen, Gijs W., van Belzen, Martine J., Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, Vulto-Van Silfhout, Anneke, Gardeitchik, Thatjana, de Bont, Eveline S., Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R., Kuiper, Roland P., Hoogerbrugge, Nicoline, Jongmans, Marjolijn C., Genetica Sectie Genoomdiagnostiek, PMC Medisch specialisten, Genetica, Genetica Klinische Genetica, Child Health, Cancer, Diets, Illja J., Waanders, Esme, Ligtenberg, Marjolijn J., van Bladel, Diede A.G., Kamping, Eveline J., Hoogerbrugge, Peter M., Hopman, Saskia, Olderode-Berends, Maran J., Gerkes, Erica H., Koolen, David A., Marcelis, Carlo, Santen, Gijs W., van Belzen, Martine J., Mordaunt, Dylan, McGregor, Lesley, Thompson, Elizabeth, Kattamis, Antonis, Pastorczak, Agata, Mlynarski, Wojciech, Ilencikova, Denisa, Vulto-Van Silfhout, Anneke, Gardeitchik, Thatjana, de Bont, Eveline S., Loeffen, Jan, Wagner, Anja, Mensenkamp, Arjen R., Kuiper, Roland P., Hoogerbrugge, Nicoline, and Jongmans, Marjolijn C.

Published
2018

20. Abstract 5173: Genetic profiling of central nervous system dissemination of B-acute lymphoblastic leukemia reveals clonal selection and therapeutic vulnerability

Author

Vanner, Robert J., primary, Dobson, Stephanie M., additional, Grandal, Ildiko, additional, Gan, Olga, additional, McLeod, Jessica, additional, Kennedy, James, additional, Voisin, Veroniqu, additional, Daghrach, Abdellatif, additional, Schoof, Erwin M., additional, Guidos, Cynthia, additional, Danska, Jayne, additional, Waanders, Esme, additional, Minden, Mark, additional, Mullighan, Charles G., additional, and Dick, John E., additional

Published
2018
Full Text
View/download PDF

21. Outcome of children with hypodiploid ALL treated with risk-directed therapy based on MRD levels

Author

Mullighan, Charles G., Jeha, Sima, Pei, Deqing, Payne-Turner, Debbie, Coustan-Smith, Elaine, Roberts, Kathryn G., Waanders, Esmé, Choi, John K., Ma, Xiaotu, Raimondi, Susana C., Fan, Yiping, Yang, Wenjian, Song, Guangchun, Yang, Jun J., Inaba, Hiroto, Downing, James R., Leung, Wing H., Bowman, W. Paul, Relling, Mary V., Evans, William E., Zhang, Jinghui, Campana, Dario, and Pui, Ching-Hon

Published
2015
Full Text
View/download PDF

23. Linking Subclonal Genetic Diversity with Functional Heterogeneity Identifies Diagnosis Subclones Destined to Relapse

Author

Dobson, Stephanie M., primary, Waanders, Esme, additional, Vanner, Robert, additional, Gan, Olga I, additional, McLeod, Jessica, additional, Grandal, Ildiko, additional, Payne-Turner, Debbie, additional, Edmonson, Michael, additional, Gu, Zhaohui, additional, Ma, Xiaotu, additional, Fan, Yiping, additional, Abelson, Sagi, additional, Gupta, Pankaj, additional, Rusch, Michael, additional, Shao, Ying, additional, Shi, Lei, additional, Pounds, Stanley, additional, Olsen, Scott, additional, Neale, Geoffrey A., additional, Easton, John, additional, Guidos, Cynthia J., additional, Danska, Jayne S., additional, Zhang, Jinghui, additional, Minden, Mark D., additional, Mullighan, Charles G., additional, and Dick, John E., additional

Published
2016
Full Text
View/download PDF

27. Expression of an Oncogenic ERG isoform Characterizes a Distinct Subtype of B-Progenitor Acute Lymphoblastic Leukemia

Author

Zhang, Jinghui, McCastlain, Kelly, Qu, Chunxu, Wu, Gang, Edmonson, Michael, Li, Yongjin, Wei, Lei, Payne-Turner, Debbie, Yoshihara, Hiroki, Churchman, Michelle L., Waanders, Esmé, Ntziachristos, Panagiotis, Aifantis, Iannis, Roberts, Kathryn G., Ma, Jing, Song, Guangchun, Easton, John, Mulder, Heather L., Chen, Xiang, Rusch, Michael, Boggs, Kristy, Vadodaria, Bhavin, Dalton, James, Valentine, Marcus L, Ding, Li, Lu, Charles, Fulton, Robert S., Fulton, Lucinda, Tabib, Yashodan, Ochoa, Kerri, Devidas, Meenakshi, Pei, Deqing, Cheng, Cheng, Evans, William E., Pui, Ching-Hon, Jeha, Sima, Harvey, Richard C., Chen, I-Ming L, Willman, Cheryl L., Marcucci, Guido, Bloomfield, Clara D., Kohlschmidt, Jessica, Mrozek, Krzysztof, Paietta, Elisabeth, Tallman, Martin S., Stock, Wendy, Voorhees, Peter M., Racevskis, Janis, Rowe, Jacob M., Luger, Selina, Kornblau, Steven M., Shurtleff, Sheila A, Raimondi, Susana C., Mardis, Elaine R, Wilson, Richard K, Hunger, Stephen P, Loh, Mignon L., Downing, James R., and Mullighan, Charles G.

Published
2015
Full Text
View/download PDF

28. Genomic Landscape of Relapsed Acute Lymphoblastic Leukemia

Author

Waanders, Esmé, Dobson, Stephanie M, Ma, Xiaotu, Payne-Turner, Debbie, Song, Guangchun, Fan, Yiping, Gu, Zhaohui, Shao, Ying, Rusch, Michael, McCastlain, Kelly, Iacobucci, Ilaria, Roberts, Kathryn G., Chen, Shann-Ching, Gupta, Pankaj, Wen, Ji, Wu, Gang, Ma, Jing, Bailey, Colin, Lear, Matthew, Olsen, Scott, Naeve, Deanna, Neale, Geoffrey A., Easton, John, Jeha, Sima, Pui, Ching-Hon, Downing, James R., Evans, William E., Relling, Mary V., Yang, Jun J, Dick, John E., Zhang, Jinghui, and Mullighan, Charles G.

Published
2015
Full Text
View/download PDF

37. Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Author

Antić Ž, Yu J, Van Reijmersdal SV, Van Dijk A, Dekker L, Segerink WH, Sonneveld E, Fiocco M, Pieters R, Hoogerbrugge PM, Van Leeuwen FN, Van Kessel AG, Waanders E, and Kuiper RP

Subjects
Child, Clone Cells, Genomics, Humans, Mutation, Prognosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma diagnosis, Precursor Cell Lymphoblastic Leukemia-Lymphoma genetics
Abstract

Genomic studies of pediatric acute lymphoblastic leukemia (ALL) have shown remarkable heterogeneity in initial diagnosis, with multiple (sub)clones harboring lesions in relapse-associated genes. However, the clinical relevance of these subclonal alterations remains unclear. We assessed the clinical relevance and prognostic value of subclonal alterations in the relapse-associated genes IKZF1, CREBBP, KRAS, NRAS, PTPN11, TP53, NT5C2, and WHSC1 in 503 ALL cases. Using Molecular Inversion Probe sequencing and breakpoint-spanning PCR we reliably detected alterations below 1% allele frequency. We identified 660 genomic alterations in 285 diagnosis samples of which 495 (75%) were subclonal. RAS pathway mutations were common, particularly in minor subclones, and comparisons between RAS hotspot mutations revealed differences in their capacity to drive clonal expansion in ALL. We did not find an association of subclonal alterations with unfavorable outcome. Particularly for IKZF1, an established prognostic marker in ALL, all clonal but none of the subclonal alterations were preserved at relapse. We conclude that, for the genes tested, there is no basis to consider subclonal alterations detected at diagnosis for risk group stratification of ALL treatment.

Published
2021
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results