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Your search keyword '"Hoogkamer, A. Q."' showing total 25 results
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25 results on '"Hoogkamer, A. Q."'

3. Integrating copy number data of 64 iAMP21 BCP-ALL patients narrows the common region of amplification to 1.57 Mb

Author

Hormann, Femke M., Hoogkamer, Alex Q., Boeree, Aurélie, Sonneveld, Edwin, Escherich, Gabriele, den Boer, Monique L., Boer, Judith M., Hormann, Femke M., Hoogkamer, Alex Q., Boeree, Aurélie, Sonneveld, Edwin, Escherich, Gabriele, den Boer, Monique L., and Boer, Judith M.

Abstract

Background and purpose: Intrachromosomal amplification of chromosome 21 (iAMP21) is a rare subtype of B-cell precursor acute lymphoblastic leukaemia (BCP-ALL). It is unknown how iAMP21 contributes to leukaemia. The currently known commonly amplified region is 5.1 Mb. Methods: We aimed to narrow down the common region of amplification by using high resolution techniques. Array comparative genomic hybridization (aCGH) was used to determine copy number aberrations, Affymetrix U133 Plus2 expression arrays were used to determine gene expression. Genome-wide expression correlations were evaluated using Globaltest. Results: We narrowed down the common region of amplification by combining copy number data from 12 iAMP21 cases with 52 cases from literature. The combined common region of amplification was 1.57 Mb, located from 36.07 to 37.64 Mb (GRCh38). This region is located telomeric from, but not including, RUNX1, which is the locus commonly used to diagnose iAMP21. This narrow region, which falls inside the Down Syndrome critical region, includes 13 genes of which the expression of eight genes was significantly upregulated compared with 143 non-iAMP21 B-other cases. Among these, transcriptional repressor RIPPLY3 (also known as DSCR6) was the highest overexpressed gene (fold change = 4.2, FDR < 0.001) and most strongly correlated (R = 0.58) with iAMP21-related genome-wide expression changes. Discussion: The more precise definition of the common region of amplification could be beneficial in the diagnosis of iAMP21 based on copy number analysis from DNA sequencing or arrays as well as stimulate functional research into the role of the included genes in iAMP21 biology.

Published
2023

8. NUTM1 is a recurrent fusion gene partner in B-cell precursor acute lymphoblastic leukemia associated with increased expression of genes on chromosome band 10p12.31-12.2

Author

Hormann, Femke M., primary, Hoogkamer, Alex Q., additional, Beverloo, H. Berna, additional, Boeree, Aurélie, additional, Dingjan, Ilse, additional, Wattel, Moniek M., additional, Stam, Ronald W., additional, Escherich, Gabriele, additional, Pieters, Rob, additional, den Boer, Monique L., additional, and Boer, Judith M., additional

Published
2019
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9. Fibroblast growth factor receptor signaling in pediatric B-cell precursor acute lymphoblastic leukemia

Author

CMM, Other research (not in main researchprogram), Genetica Sectie Genoomdiagnostiek, Jerchel, Isabel S., Hoogkamer, Alex Q., Ariës, Ingrid M., Boer, Judith M., Besselink, Nicolle J.M., Koudijs, Marco J., Pieters, Rob, den Boer, Monique L., CMM, Other research (not in main researchprogram), Genetica Sectie Genoomdiagnostiek, Jerchel, Isabel S., Hoogkamer, Alex Q., Ariës, Ingrid M., Boer, Judith M., Besselink, Nicolle J.M., Koudijs, Marco J., Pieters, Rob, and den Boer, Monique L.

Published
2019

11. RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia

Author

Jerchel, I. S., Hoogkamer, A. Q., Ariës, I. M., Steeghs, E. M.P., Boer, J. M., Besselink, N. J.M., Boeree, A., Van De Ven, C., De Groot-Kruseman, H. A., De Haas, V., Horstmann, M. A., Escherich, G., Zwaan, C. M., Cuppen, E., Koudijs, M. J., Pieters, R., Den Boer, M. L., Jerchel, I. S., Hoogkamer, A. Q., Ariës, I. M., Steeghs, E. M.P., Boer, J. M., Besselink, N. J.M., Boeree, A., Van De Ven, C., De Groot-Kruseman, H. A., De Haas, V., Horstmann, M. A., Escherich, G., Zwaan, C. M., Cuppen, E., Koudijs, M. J., Pieters, R., and Den Boer, M. L.

Published
2018

12. RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia

Author

Lab Reumatologie/Klinische Immunologie, Other research (not in main researchprogram), PMC Medisch specialisten, CMM, Genetica Sectie Genoomdiagnostiek, Child Health, Jerchel, I. S., Hoogkamer, A. Q., Ariës, I. M., Steeghs, E. M.P., Boer, J. M., Besselink, N. J.M., Boeree, A., Van De Ven, C., De Groot-Kruseman, H. A., De Haas, V., Horstmann, M. A., Escherich, G., Zwaan, C. M., Cuppen, E., Koudijs, M. J., Pieters, R., Den Boer, M. L., Lab Reumatologie/Klinische Immunologie, Other research (not in main researchprogram), PMC Medisch specialisten, CMM, Genetica Sectie Genoomdiagnostiek, Child Health, Jerchel, I. S., Hoogkamer, A. Q., Ariës, I. M., Steeghs, E. M.P., Boer, J. M., Besselink, N. J.M., Boeree, A., Van De Ven, C., De Groot-Kruseman, H. A., De Haas, V., Horstmann, M. A., Escherich, G., Zwaan, C. M., Cuppen, E., Koudijs, M. J., Pieters, R., and Den Boer, M. L.

Published
2018

13. High STAP1 expression in DUX4-rearranged cases is not suitable as therapeutic target in pediatric B-cell precursor acute lymphoblastic leukemia

Author

Steeghs, Elisabeth M. P., primary, Bakker, Marjolein, additional, Hoogkamer, Alex Q., additional, Boer, Judith M., additional, Hartman, Quirine J., additional, Stalpers, Femke, additional, Escherich, Gabriele, additional, de Haas, Valerie, additional, de Groot-Kruseman, Hester A., additional, Pieters, Rob, additional, and den Boer, Monique L., additional

Published
2018
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15. RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia

Author

Jerchel, I S, primary, Hoogkamer, A Q, additional, Ariës, I M, additional, Steeghs, E M P, additional, Boer, J M, additional, Besselink, N J M, additional, Boeree, A, additional, van de Ven, C, additional, de Groot-Kruseman, H A, additional, de Haas, V, additional, Horstmann, M A, additional, Escherich, G, additional, Zwaan, C M, additional, Cuppen, E, additional, Koudijs, M J, additional, Pieters, R, additional, and den Boer, M L, additional

Published
2017
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16. JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia

Author

Steeghs, Elisabeth M.P., primary, Jerchel, Isabel S., additional, de Goffau-Nobel, Willemieke, additional, Hoogkamer, Alex Q., additional, Boer, Judith M., additional, Boeree, Aurélie, additional, van de Ven, Cesca, additional, Koudijs, Marco J., additional, Besselink, Nicolle J.M., additional, de Groot-Kruseman, Hester A., additional, Zwaan, Christian Michel, additional, Horstmann, Martin A., additional, Pieters, Rob, additional, and den Boer, Monique L., additional

Published
2017
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17. JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia

Author

Steeghs, Elisabeth M.P., Jerchel, Isabel S., de Goffau-Nobel, Willemieke, Hoogkamer, Alex Q., Boer, Judith M., Boeree, Aurélie, van de Ven, Cesca, Koudijs, Marco J., Besselink, Nicolle J.M., de Groot-Kruseman, Hester A., Zwaan, Christian Michel, Horstmann, Martin A., Pieters, Rob, den Boer, Monique L., Steeghs, Elisabeth M.P., Jerchel, Isabel S., de Goffau-Nobel, Willemieke, Hoogkamer, Alex Q., Boer, Judith M., Boeree, Aurélie, van de Ven, Cesca, Koudijs, Marco J., Besselink, Nicolle J.M., de Groot-Kruseman, Hester A., Zwaan, Christian Michel, Horstmann, Martin A., Pieters, Rob, and den Boer, Monique L.

Published
2017

18. JAK2 aberrations in childhood B-cell precursor acute lymphoblastic leukemia

Author

CMM Groep Cuppen, NEMI, Genetica Sectie Genoomdiagnostiek, Other research (not in main researchprogram), Lab Reumatologie/Klinische Immunologie, Child Health, PMC Medisch specialisten, Steeghs, Elisabeth M.P., Jerchel, Isabel S., de Goffau-Nobel, Willemieke, Hoogkamer, Alex Q., Boer, Judith M., Boeree, Aurélie, van de Ven, Cesca, Koudijs, Marco J., Besselink, Nicolle J.M., de Groot-Kruseman, Hester A., Zwaan, Christian Michel, Horstmann, Martin A., Pieters, Rob, den Boer, Monique L., CMM Groep Cuppen, NEMI, Genetica Sectie Genoomdiagnostiek, Other research (not in main researchprogram), Lab Reumatologie/Klinische Immunologie, Child Health, PMC Medisch specialisten, Steeghs, Elisabeth M.P., Jerchel, Isabel S., de Goffau-Nobel, Willemieke, Hoogkamer, Alex Q., Boer, Judith M., Boeree, Aurélie, van de Ven, Cesca, Koudijs, Marco J., Besselink, Nicolle J.M., de Groot-Kruseman, Hester A., Zwaan, Christian Michel, Horstmann, Martin A., Pieters, Rob, and den Boer, Monique L.

Published
2017

19. JAK2 Aberrations in Childhood B-Cell Precursor Acute Lymphoblastic Leukemia

Author

Steeghs, Elisabeth M.P., primary, Jerchel, Isabel S., additional, de Goffau-Nobel, Willemieke, additional, Hoogkamer, Alex Q., additional, Boer, Judith M., additional, Boeree, Aurélie, additional, van de Ven, Cesca, additional, Koudijs, Marco J., additional, Besselink, Nicolle J.M., additional, de Groot-Kruseman, Hester A., additional, Zwaan, C. Michel, additional, Horstmann, Martin A., additional, Pieters, Rob, additional, and Den Boer, Monique L., additional

Published
2016
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20. RAS Pathway Mutations As Predictive Biomarker for Treatment Adaptation in Pediatric B-Cell Precursor Acute Lymphoblastic Leukemia

Author

Jerchel, Isabel S., primary, Hoogkamer, Alex Q., additional, Ariës, Ingrid M., additional, Steeghs, Elisabeth M.P., additional, Boer, Judith M., additional, Besselink, Nicolle J.M., additional, Boeree, Aurélie, additional, van de Ven, Cesca, additional, de Groot-Kruseman, Hester A., additional, De Haas, Valerie, additional, Horstmann, Martin A., additional, Escherich, Gabriele, additional, Stam, Ronald W., additional, Zwaan, C. Michel, additional, Cuppen, Edwin, additional, Koudijs, Marco J., additional, Pieters, Rob, additional, and Den Boer, Monique L., additional

Published
2016
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22. RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia

Author

Jerchel, I S, Hoogkamer, A Q, Ariës, I M, Steeghs, E M P, Boer, J M, Besselink, N J M, Boeree, A, van de Ven, C, de Groot-Kruseman, H A, de Haas, V, Horstmann, M A, Escherich, G, Zwaan, C M, Cuppen, E, Koudijs, M J, Pieters, R, and den Boer, M L

Abstract

RAS pathway mutations have been linked to relapse and chemotherapy resistance in pediatric B-cell precursor acute lymphoblastic leukemia (BCP-ALL). However, comprehensive data on the frequency and prognostic value of subclonal mutations in well-defined subgroups using highly sensitive and quantitative methods are lacking. Targeted deep sequencing of 13 RAS pathway genes was performed in 461 pediatric BCP-ALL cases at initial diagnosis and in 19 diagnosis-relapse pairs. Mutations were present in 44.2% of patients, with 24.1% carrying a clonal mutation. Mutation frequencies were highest in high hyperdiploid, infant t(4;11)-rearranged, BCR-ABL1-like and B-other cases (50–70%), whereas mutations were less frequent in ETV6-RUNX1-rearranged, and rare in TCF3-PBX1- and BCR-ABL1-rearranged cases (27–4%). RAS pathway-mutated cells were more resistant to prednisolone and vincristine ex vivo. Clonal, but not subclonal, mutations were linked to unfavorable outcome in standard- and high-risk-treated patients. At relapse, most RAS pathway mutations were clonal (9 of 10). RAS mutant cells were sensitive to the MEK inhibitor trametinib ex vivo, and trametinib sensitized resistant cells to prednisolone. We conclude that RAS pathway mutations are frequent, and that clonal, but not subclonal, mutations are associated with unfavorable risk parameters in newly diagnosed pediatric BCP-ALL. These mutations may designate patients eligible for MEK inhibitor treatment.

Published
2018
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