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4. Kidney Organoids Are Capable of Forming Tumors, but Not Teratomas

Author

Shankar, Anusha S, Du, Zhaoyu, Tejeda Mora, Hector, Boers, Ruben, Cao, Wanlu, van den Bosch, Thierry P P, Korevaar, Sander S, Boers, Joachim, van IJcken, Wilfred F J, Bindels, Eric M J, Eussen, Bert, de Klein, Annelies, Pan, Qiuwei, Oudijk, Lindsey, Clahsen-van Groningen, Marian C, Hoorn, Ewout J, Baan, Carla C, Gribnau, Joost, Hoogduijn, Martin J, Shankar, Anusha S, Du, Zhaoyu, Tejeda Mora, Hector, Boers, Ruben, Cao, Wanlu, van den Bosch, Thierry P P, Korevaar, Sander S, Boers, Joachim, van IJcken, Wilfred F J, Bindels, Eric M J, Eussen, Bert, de Klein, Annelies, Pan, Qiuwei, Oudijk, Lindsey, Clahsen-van Groningen, Marian C, Hoorn, Ewout J, Baan, Carla C, Gribnau, Joost, and Hoogduijn, Martin J

Abstract

Induced pluripotent stem cell (iPSC)-derived kidney organoids are a potential tool for the regeneration of kidney tissue. They represent an early stage of nephrogenesis and have been shown to successfsully vascularize and mature further in vivo. However, there are concerns regarding the long-term safety and stability of iPSC derivatives. Specifically, the potential for tumorigenesis may impede the road to clinical application. To study safety and stability of kidney organoids, we analyzed their potential for malignant transformation in a teratoma assay and following long-term subcutaneous implantation in an immune-deficient mouse model. We did not detect fully functional residual iPSCs in the kidney organoids as analyzed by gene expression analysis, single-cell sequencing and immunohistochemistry. Accordingly, kidney organoids failed to form teratoma. Upon long-term subcutaneous implantation of whole organoids in immunodeficient IL2Ry-/-RAG2-/- mice, we observed tumor formation in 5 out of 103 implanted kidney organoids. These tumors were composed of WT1+CD56+ immature blastemal cells and showed histological resemblance with Wilms tumor. No genetic changes were identified that contributed to the occurrence of tumorigenic cells within the kidney organoids. However, assessment of epigenetic changes revealed a unique cluster of differentially methylated genes that were also present in undifferentiated iPSCs. We discovered that kidney organoids have the capacity to form tumors upon long-term implantation. The presence of epigenetic modifications combined with the lack of environmental cues may have caused an arrest in terminal differentiation. Our results indicate that the safe implementation of kidney organoids should exclude the presence of pro-tumorigenic methylation in kidney organoids.

Published
2022

5. Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma

Author

Drabarek, Wojtek, van Riet, Job, Nguyen, Josephine Q.N., Smit, Kyra N., van Poppelen, Natasha M., Jansen, Rick, Medico-Salsench, Eva, Vaarwater, Jolanda, Magielsen, Frank J., Brands, Tom, Eussen, Bert, van den Bosch, Thierry P.P., Verdijk, Robert M., Naus, Nicole C., Paridaens, Dion, de Klein, Annelies, Brosens, Erwin, van de Werken, Harmen J.G., Kilic, Emine, Drabarek, Wojtek, van Riet, Job, Nguyen, Josephine Q.N., Smit, Kyra N., van Poppelen, Natasha M., Jansen, Rick, Medico-Salsench, Eva, Vaarwater, Jolanda, Magielsen, Frank J., Brands, Tom, Eussen, Bert, van den Bosch, Thierry P.P., Verdijk, Robert M., Naus, Nicole C., Paridaens, Dion, de Klein, Annelies, Brosens, Erwin, van de Werken, Harmen J.G., and Kilic, Emine

Abstract

Approximately 25% of all uveal melanoma (UM) contain driver mutations in the gene encoding the spliceosome factor SF3B1, and whilst patients with such SF3B1 mutations generally have an intermediate risk on developing metastatic disease, a third of these patients develop early metastasis within 5 years after diagnosis. We therefore investigated whether clinical and/or genetic variables could be indicative of short progression-free survival (PFS; <60 months) or long PFS (PFS ≥60 months) for SF3B1-mutated (SF3B1mut) UM patients. We collected 146 SF3B1mut UM from our Rotterdam Ocular Melanoma Studygroup (ROMS) database and external published datasets. After stratification of all SF3B1mut UM using short PFS vs. long PFS, only largest tumor diameter (LTD) was significantly larger (mean: 17.7 mm (±2.8 SD) in the short PFS SF3B1mut group vs. the long PFS group (mean: 14.7 (±3.7 SD, p = 0.001). Combined ROMS and The Cancer Genome Atlas (TCGA) transcriptomic data were evaluated, and we identified SF3B1mut-specific canonical transcripts (e.g., a low expression of ABHD6 indicative for early-onset metastatic disease) or distinct expression of SF3B1mut UM aberrant transcripts, indicative of early-or late-onset or no metastatic SF3B1mut UM.

Published
2022

6. Complex MAX Rearrangement in a Family With Malignant Pheochromocytoma, Renal Oncocytoma, and Erythrocytosis

Author

Korpershoek, Esther, Koffy, Djamailys, Eussen, Bert H., Oudijk, Lindsey, Papathomas, Thomas G., van Nederveen, Francien H., Belt, Eric J. T., Franssen, Gaston J. H., Restuccia, David F. J., Krol, Niels M. G., van der Luijt, Rob B., Feelders, Richard A., Oldenburg, Rogier A., van Ijcken, Wilfred F. J., de Klein, Annelies, de Herder, Wouter W., de Krijger, Ronald R., and Dinjens, Winand N. M.

Published
2016

7. Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis

Author

Poppelen, Natasha M. van, Ipenburg, J.A. van, Bosch, Quincy van den, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Kilic, Emine, Verdijk, Robert M., Poppelen, Natasha M. van, Ipenburg, J.A. van, Bosch, Quincy van den, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Kilic, Emine, and Verdijk, Robert M.

Abstract

Contains fulltext : 240775.pdf (Publisher’s version ) (Open Access)

Published
2021

8. Molecular genetics of conjunctival melanoma and prognostic value of tert promoter mutation analysis

Author

van Poppelen, Natasha M., van Ipenburg, Jolique A., van den Bosch, Quincy, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Magielsen, Frank, Dubbink, Hendrikus J., Paridaens, Dion, Brosens, Erwin, Naus, Nicole, de Klein, Annelies, Kiliç, Emine, Verdijk, Robert M., van Poppelen, Natasha M., van Ipenburg, Jolique A., van den Bosch, Quincy, Vaarwater, Jolanda, Brands, Tom, Eussen, Bert, Magielsen, Frank, Dubbink, Hendrikus J., Paridaens, Dion, Brosens, Erwin, Naus, Nicole, de Klein, Annelies, Kiliç, Emine, and Verdijk, Robert M.

Abstract

The aim of this study was exploration of the genetic background of conjunctival melanoma (CM) and correlation with recurrent and metastatic disease. Twenty-eight CM from the Rotterdam Ocular Melanoma Study group were collected and DNA was isolated from the formalin-fixed paraffin embedded tissue. Targeted next-generation sequencing was performed using a panel covering GNAQ, GNA11, EIF1AX, BAP1, BRAF, NRAS, c-KIT, PTEN, SF3B1, and TERT genes. Recurrences and metastasis were present in eight (29%) and nine (32%) CM cases, respectively. TERT promoter mutations were most common (54%), but BRAF (46%), NRAS (21%), BAP1 (18%), PTEN (14%), c-KIT (7%), and SF3B1 (4%) mutations were also observed. No mutations in GNAQ, GNA11, and EIF1AX were found. None of the mutations was significantly associated with recurrent disease. Presence of a TERT promoter mutation was associated with metastatic disease (p-value = 0.008). Based on our molecular findings, CM comprises a separate entity within melanoma, although there are overlapping molecular features with uveal melanoma, such as the presence of BAP1 and SF3B1 mutations. This warrants careful interpretation of molecular data, in the light of clinical findings. About three quarter of CM contain drug-targetable mutations, and TERT promoter mutations are correlated to metastatic disease in CM.

Published
2021

10. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Author

Oei, Ling, Hsu, Yi-Hsiang, Styrkarsdottir, Unnur, Eussen, Bert H, de Klein, Annelies, Peters, Marjolein J, Halldorsson, Bjarni, Liu, Ching-Ti, Alonso, Nerea, Kaptoge, Stephen K, Thorleifsson, Gudmar, Hallmans, Göran, Hocking, Lynne J, Husted, Lise Bjerre, Jameson, Karen A, Kruk, Marcin, Lewis, Joshua R, Patel, Millan S, Scollen, Serena, Svensson, Olle, Trompet, Stella, van Schoor, Natasja M, Zhu, Kun, Buckley, Brendan M, Cooper, Cyrus, Ford, Ian, Goltzman, David, González-Macías, Jesús, Langdahl, Bente Lomholt, Leslie, William D, Lips, Paul, Lorenc, Roman S, Olmos, José M, Pettersson-Kymmer, Ulrika, Reid, David M, Riancho, José A, Slagboom, P Eline, Garcia-Ibarbia, Carmen, Ingvarsson, Thorvaldur, Johannsdottir, Hrefna, Luben, Robert, Medina-Gómez, Carolina, Arp, Pascal, Nandakumar, Kannabiran, Palsson, Stefan Th, Sigurdsson, Gunnar, van Meurs, Joyce B J, Zhou, Yanhua, Hofman, Albert, Jukema, J Wouter, Pols, Huibert A P, Prince, Richard L, Cupples, L Adrienne, Marshall, Christian R, Pinto, Dalila, Sato, Daisuke, Scherer, Stephen W, Reeve, Jonathan, Thorsteinsdottir, Unnur, Karasik, David, Richards, J Brent, Stefansson, Kari, Uitterlinden, André G, Ralston, Stuart H, Ioannidis, John P A, Kiel, Douglas P, Rivadeneira, Fernando, and Estrada, Karol

Published
2014
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12. Molecular Genetics of Conjunctival Melanoma and Prognostic Value of TERT Promoter Mutation Analysis

Author

van Poppelen, Natasha M., primary, van Ipenburg, Jolique A., additional, van den Bosch, Quincy, additional, Vaarwater, Jolanda, additional, Brands, Tom, additional, Eussen, Bert, additional, Magielsen, Frank, additional, Dubbink, Hendrikus J., additional, Paridaens, Dion, additional, Brosens, Erwin, additional, Naus, Nicole, additional, de Klein, Annelies, additional, Kiliç, Emine, additional, and Verdijk, Robert M., additional

Published
2021
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15. High-throughput analysis of subtelomeric chromosome rearrangements by use of array-based comparative genomic hybridization

Author

Veltman, Joris A., Schoenmakers, Eric F.P.M., Eussen, Bert H., Janssen, Irene, Merkx, Gerard, van Cleef, Brigitte, van Ravenswaaij, Conny M., Brunner, Han G., Smeets, Dominique, and van Kessel, Ad Geurts

Subjects
Genetic research -- Analysis, Genomes -- Physiological aspects, Mental retardation -- Causes of, Miscarriage -- Causes of, Genetic disorders -- Physiological aspects, Genetic markers -- Physiological aspects, Cytogenetics -- Research, Biological sciences
Published
2002

16. Infantile hypertrophic pyloric stenosis in patients with esophageal atresia

Author

Kate, Chantal A., primary, Brouwer, Rutger W. W., additional, Bever, Yolande, additional, Martens, Vera K., additional, Brands, Tom, additional, Beelen, Nicole W. G., additional, Brooks, Alice S., additional, Huigh, Daphne, additional, Helm, Robert M., additional, Eussen, Bert H. F. M. M., additional, IJcken, Wilfred F. J., additional, IJsselstijn, Hanneke, additional, Tibboel, Dick, additional, Wijnen, Rene M. H., additional, Klein, Annelies, additional, Hofstra, Robert M. W., additional, and Brosens, Erwin, additional

Published
2020
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17. Cystic renal-epithelial derived induced pluripotent stem cells from polycystic kidney disease patients

Author

Kenter, Annegien T., primary, Rentmeester, Eveline, additional, Riet, Job, additional, Boers, Ruben, additional, Boers, Joachim, additional, Ghazvini, Mehrnaz, additional, Xavier, Vanessa J., additional, Leenders, Geert J.L.H., additional, Verhagen, Paul C.M.S., additional, Til, Marjan E., additional, Eussen, Bert, additional, Losekoot, Monique, additional, Klein, Annelies, additional, Peters, Dorien J.M., additional, IJcken, Wilfred F.J., additional, Werken, Harmen J.G., additional, Zietse, Robert, additional, Hoorn, Ewout J., additional, Jansen, Gert, additional, and Gribnau, Joost H., additional

Published
2020
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19. Molecular Alterations in Dog Pheochromocytomas and Paragangliomas

Author

Korpershoek, Esther, Dieduksman, Daphne A E R, Grinwis, Guy C M, Day, Michael J, Reusch, Claudia E, Hilbe, Monika, Fracassi, Federico, Krol, Niels M G, Uitterlinden, André G, de Klein, Annelies, Eussen, Bert, Stoop, Hans, de Krijger, Ronald R, Galac, Sara, Dinjens, Winand N M, dPB CR, Veterinair Pathologisch Diagnostisch Cnt, LS Pathologie, Applied Veterinary Research, PB AVM, dCSCA RMSC-2, Sub Endocrinologie, Pathology, Internal Medicine, Clinical Genetics, University of Zurich, Korpershoek, Esther, Korpershoek E., Dieduksman D.A.E.R., Grinwis G.C.M., Day M.J., Reusch C.E., Hilbe M., Fracassi F., Krol N.M.G., Uitterlinden A.G., De Klein A., Eussen B., Stoop H., De Krijger R.R., Galac S., Dinjens W.N.M., dPB CR, Veterinair Pathologisch Diagnostisch Cnt, LS Pathologie, Applied Veterinary Research, PB AVM, dCSCA RMSC-2, and Sub Endocrinologie

Subjects
0301 basic medicine, Cancer Research, 10253 Department of Small Animals, chromosomal alteration, SDHB, SDHA, 10184 Institute of Veterinary Pathology, Single-nucleotide polymorphism, Pheochromocytoma, comparative genomics, Biology, lcsh:RC254-282, Article, Paraganglioma, 03 medical and health sciences, symbols.namesake, paraganglioma, 0302 clinical medicine, Comparative genomic, Dog, medicine, 1306 Cancer Research, SDHD, Sanger sequencing, 630 Agriculture, Comparative genomics, Chromosome, Chromosomal alteration, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Molecular biology, pheochromocytoma, 030104 developmental biology, Oncology, 030220 oncology & carcinogenesis, Mutation, dog, symbols, 570 Life sciences, biology, 2730 Oncology, mutation
Abstract

8658860258318000Recently, genetic alterations in the genes encoding succinate dehydrogenase subunit B and D (SDHB and SDHD) were identified in pet dogs that presented with spontaneously arising pheochromocytomas (PCC) and paragangliomas (PGL, together PPGL), suggesting dogs might be an interesting comparative model for the study of human PPGL. To study whether canine PPGL resembled human PPGL, we investigated a series of 50 canine PPGLs by immunohistochemistry to determine the expression of synaptophysin (SYP), tyrosine hydroxylase (TH) and succinate dehydrogenase subunit A (SDHA) and B (SDHB). In parallel, 25 canine PPGLs were screened for mutations in SDHB and SDHD by Sanger sequencing. To detect large chromosomal alterations, single nucleotide polymorphism (SNP) arrays were performed for 11 PPGLs, including cases for which fresh frozen tissue was available. The immunohistochemical markers stained positive in the majority of canine PPGLs. Genetic screening of the canine tumors revealed the previously described variants in four cases, SDHB p.Arg38Gln (n = 1) and SDHD p.Lys122Arg (n = 3). Furthermore, the SNP arrays revealed large chromosomal alterations of which the loss of chromosome 5, partly homologous to human chromosome 1p and chromosome 11, was the most frequent finding (100% of the six cases with chromosomal alterations). In conclusion, canine and human PPGLs show similar genomic alterations, suggestive of common interspecies PPGL-related pathways.

Published
2019
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20. Molecular Alterations in Dog Pheochromocytomas and Paragangliomas

Author

dPB CR, Veterinair Pathologisch Diagnostisch Cnt, LS Pathologie, Applied Veterinary Research, PB AVM, dCSCA RMSC-2, Sub Endocrinologie, Korpershoek, Esther, Dieduksman, Daphne A E R, Grinwis, Guy C M, Day, Michael J, Reusch, Claudia E, Hilbe, Monika, Fracassi, Federico, Krol, Niels M G, Uitterlinden, André G, de Klein, Annelies, Eussen, Bert, Stoop, Hans, de Krijger, Ronald R, Galac, Sara, Dinjens, Winand N M, dPB CR, Veterinair Pathologisch Diagnostisch Cnt, LS Pathologie, Applied Veterinary Research, PB AVM, dCSCA RMSC-2, Sub Endocrinologie, Korpershoek, Esther, Dieduksman, Daphne A E R, Grinwis, Guy C M, Day, Michael J, Reusch, Claudia E, Hilbe, Monika, Fracassi, Federico, Krol, Niels M G, Uitterlinden, André G, de Klein, Annelies, Eussen, Bert, Stoop, Hans, de Krijger, Ronald R, Galac, Sara, and Dinjens, Winand N M

Published
2019

21. Molecular alterations in dog pheochromocytomas and paragangliomas

Author

Pathologie patiënten zorg, Pathologie Pathologen staf, Korpershoek, Esther, Dieduksman, Daphne A.E.R., Grinwis, Guy C.M., Day, Michael J., Reusch, Claudia E., Hilbe, Monika, Fracassi, Federico, Krol, Niels M.G., Uitterlinden, André G., De Klein, Annelies, Eussen, Bert, Stoop, Hans, De Krijger, Ronald R., Galac, Sara, Dinjens, Winand N.M., Pathologie patiënten zorg, Pathologie Pathologen staf, Korpershoek, Esther, Dieduksman, Daphne A.E.R., Grinwis, Guy C.M., Day, Michael J., Reusch, Claudia E., Hilbe, Monika, Fracassi, Federico, Krol, Niels M.G., Uitterlinden, André G., De Klein, Annelies, Eussen, Bert, Stoop, Hans, De Krijger, Ronald R., Galac, Sara, and Dinjens, Winand N.M.

Published
2019

22. Identification and characterization of the tuberous sclerosis gene on chromosome 16

Author

Nellist, Mark, Janssen, Bart, Brook-Carter, Phillip T., Hesseling-Janssen, Arjenne L.W., Maheshwar, Magitha M., Verhoef, Senno, Ouweland, Ans M.W. van den, Lindhout, Dick, Eussen, Bert, Cordeiro, Isabel, Santos, Heloisa, Halley, Dicky J.J., Sampson, Julian R., Ward, Christopher J., Peral, Belen, Thomas, Sandra, Hughes, Jim, Harris, Peter C., Roelfsema, Jeroen H., Saris, Jasper J., Spruit, Lia, Peters, Dorien J.M., Dauwerse, Johannes G., and Breuning, Martijn H.

Subjects
Tuberous sclerosis -- Research, Chromosome deletion -- Analysis, Genetic transcription -- Analysis, G proteins -- Research, Biological sciences
Abstract

A gene on chromosome 16 that becomes mutated in individual with tuberous sclerosis (TSC) is identified using a positional cloning strategy. The 5.5 kb transcript of this gene, named TSC2, is expressed widely. The protein product of TSC2 tuberin exhibits regional homology to the protein GAP3. The role of tuberin in cellular proliferation and differentiation, in relation to the product of the unidentified TSC1 gene, reveals the basic mechanism underlying TSC.

Published
1993

25. Generation of genetically matched hiPSC lines from two mosaic facioscapulohumeral dystrophy type 1 patients

Author

van der Wal, Erik, primary, den Hamer, Bianca, additional, van der Vliet, Patrick J., additional, Tok, Merve, additional, Brands, Tom, additional, Eussen, Bert, additional, Lemmers, Richard J.L.F., additional, Freund, Christian, additional, de Klein, Annelies, additional, Buijsen, Ronald A.M., additional, van Roon-Mom, Willeke M.C., additional, Tawil, Rabi, additional, van der Maarel, Silvère M., additional, and de Greef, Jessica C., additional

Published
2019
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26. Generation of 5 induced pluripotent stem cell lines, LUMCi007-A and B and LUMCi008-A, B and C, from 2 patients with Huntington disease

Author

van der Graaf, Linda M., primary, Gardiner, Sarah L., additional, Tok, Merve, additional, Brands, Tom, additional, Boogaard, Merel W., additional, Pepers, Barry A., additional, Eussen, Bert, additional, de Klein, Annelies, additional, Aziz, N. Ahmad, additional, Freund, Christian, additional, Buijsen, Ronald A.M., additional, and van Roon-Mom, Willeke M.C., additional

Published
2019
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27. Models for infantile hypertrophic pyloric stenosis development in patients with esophageal atresia

Author

ten Kate, Chantal A., primary, Brouwer, Rutger W.W., additional, van Bever, Yolande, additional, Martens, Vera K., additional, Brands, Tom, additional, van Beelen, Nicole W.G., additional, Brooks, Alice S., additional, Huigh, Daphne, additional, Eussen, Bert J.F.M.M., additional, van IJcken, Wilfred F.J., additional, IJsselstijn, Hanneke, additional, Tibboel, Dick, additional, Wijnen, Rene M.H., additional, de Klein, Annelies, additional, Hofstra, Robert M.W., additional, and Brosens, Erwin, additional

Published
2019
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28. Generation of 3 human induced pluripotent stem cell lines LUMCi005-A, B and C from a Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch type patient

Author

Daoutsali, Elena, primary, Buijsen, Ronald A.M., additional, van de Pas, Simone, additional, Jong, Anke 't, additional, Mikkers, Harald, additional, Brands, Tom, additional, Eussen, Bert, additional, de Klein, Annelies, additional, van der Graaf, Linda M., additional, Pepers, Barry A., additional, Freund, Christian, additional, Terwindt, Gisela M., additional, Orlova, Valeria V., additional, and van Roon-Mom, Willeke M.C., additional

Published
2019
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31. Chromosomal rearrangements in uveal melanoma: Chromothripsis

Author

van Poppelen, Natasha M., primary, Yavuzyigitoglu, Serdar, additional, Smit, Kyra N., additional, Vaarwater, Jolanda, additional, Eussen, Bert, additional, Brands, Tom, additional, Paridaens, Dion, additional, Kiliç, Emine, additional, and de Klein, Annelies, additional

Published
2018
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32. Generation of 3 spinocerebellar ataxia type 1 (SCA1) patient-derived induced pluripotent stem cell lines LUMCi002-A, B, and C and 2 unaffected sibling control induced pluripotent stem cell lines LUMCi003-A and B

Author

Buijsen, Ronald A.M., primary, Gardiner, Sarah L., additional, Bouma, Marga J., additional, van der Graaf, Linda M., additional, Boogaard, Merel W., additional, Pepers, Barry A., additional, Eussen, Bert, additional, de Klein, Annelies, additional, Freund, Christian, additional, and van Roon-Mom, Willeke M.C., additional

Published
2018
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34. Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity

Author

van Bever, Yolande, primary, Wolffenbuttel, Katja P., additional, Brüggenwirth, Hennie T., additional, Blom, Eric, additional, de Klein, Annelies, additional, Eussen, Bert H.J., additional, van der Windt, Florijn, additional, Hannema, Sabine E., additional, Dessens, Arianne B., additional, Dorssers, Lambert C.J., additional, Biermann, Katharina, additional, Hersmus, Remko, additional, de Rijke, Yolanda B., additional, and Looijenga, Leendert H.J., additional

Published
2017
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35. Correlation of Gene Mutation Status with Copy Number Profile in Uveal Melanoma

Author

Yavuzyigitoglu, Serdar, primary, Drabarek, Wojtek, additional, Smit, Kyra N., additional, van Poppelen, Natasha, additional, Koopmans, Anna E., additional, Vaarwater, Jolanda, additional, Brands, Tom, additional, Eussen, Bert, additional, Dubbink, Hendrikus J., additional, van Riet, Job, additional, van de Werken, Harmen J.G., additional, Beverloo, Berna, additional, Verdijk, Robert M., additional, Naus, Nicole, additional, Paridaens, Dion, additional, Kilic, Emine, additional, and de Klein, Annelies, additional

Published
2017
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36. Molecular Cytogenetic Analysis of Eight Inversion Duplications of Human Chromosome 13q That Each Contain a Neocentromere

Author

Warburton, Peter E., Dolled, Marisa, Mahmood, Radma, Alonso, Alicia, Li, Shulan, Naritomi, Kenji, Tohma, Takaya, Nagai, Toshiro, Hasegawa, Tomonobu, Ohashi, Hirofumi, Govaerts, Lutgarde C. P., Eussen, Bert H. J., Van Hemel, Jan O., Lozzio, Carmen, Schwartz, Stuart, Dowhanick-Morrissette, Jennifer J., Spinner, Nancy B., Rivero, Horacio, Crolla, John A., Yu, Chih-yu, and Warburton, Dorothy

Subjects
Human genetics -- Research, Chromosomes -- Research, Cells -- Analysis, Immunofluorescence -- Analysis, DNA -- Research, Proteins -- Research, Biological sciences
Published
2000

37. Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula

Author

Brosens, Erwin, primary, Marsch, Florian, additional, de Jong, Elisabeth M, additional, Zaveri, Hitisha P, additional, Hilger, Alina C, additional, Choinitzki, Vera Gisela, additional, Hölscher, Alice, additional, Hoffmann, Per, additional, Herms, Stefan, additional, Boemers, Thomas M, additional, Ure, Benno M, additional, Lacher, Martin, additional, Ludwig, Michael, additional, Eussen, Bert H, additional, van der Helm, Robert M, additional, Douben, Hannie, additional, Van Opstal, Diane, additional, Wijnen, Rene M H, additional, Beverloo, H Berna, additional, van Bever, Yolande, additional, Brooks, Alice S, additional, IJsselstijn, Hanneke, additional, Scott, Daryl A, additional, Schumacher, Johannes, additional, Tibboel, Dick, additional, Reutter, Heiko, additional, and de Klein, Annelies, additional

Published
2016
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38. Uveal Melanomas with SF3B1 Mutations

Author

Yavuzyigitoglu, Serdar, primary, Koopmans, Anna E., additional, Verdijk, Robert M., additional, Vaarwater, Jolanda, additional, Eussen, Bert, additional, van Bodegom, Alice, additional, Paridaens, Dion, additional, Kiliç, Emine, additional, and de Klein, Annelies, additional

Published
2016
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39. Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.

Author

van Bever, Yolande, Wolffenbuttel, Katja P., Brüggenwirth, Hennie T., Blom, Eric, de Klein, Annelies, Eussen, Bert H.J., van der Windt, Florijn, Hannema, Sabine E., Dessens, Arianne B., Dorssers, Lambert C.J., Biermann, Katharina, Hersmus, Remko, de Rijke, Yolanda B., and Looijenga, Leendert H.J.

Subjects
DISEASES, SCROTUM, GYNECOMASTIA, HYPERPIGMENTATION, CASTRATION, IMMUNOHISTOCHEMISTRY, KARYOTYPES
Abstract

We report on an adult male initially presenting with gynecomastia and a painless scrotal mass without additional genital anomalies. Hyperpigmentation of the skin following the Blaschko's lines was identified. He underwent gonadectomy because of suspected cancer. Histological analyses revealed an ovotestis with ovulatory activity confirmed by immunohistochemistry with multiple markers. Karyotyping of cultured peripheral blood lymphocytes and a buccal smear revealed a 46,XX/46,XY chimeric constitution with different percentages. Multiple molecular analyses as well as blood typing implied a tetragametic origin. After the unilateral gonadectomy, the patient developed recurrent painful cystic swellings of the remaining gonad. Because of the wish to preserve hormonal activity as well as future fertility, the patient underwent surgical resection of a cystic gonadal area. The removed tissue showed ovulation-related features in addition to both testicular and ovarian tissue, diagnosed as an ovotestis. Testosterone therapy was initiated to suppress the persistently elevated gonadotropins and thereby suppress ovarian activity. During treatment, the recurrent pain complaints and cystic swellings ceased, although gonadotropin levels were not fully suppressed. Based on these observations, the importance of a detailed genetic and pathological diagnosis and the clinical dilemmas including the pros and cons of personalized treatment with gonadal preservative surgery are discussed. [ABSTRACT FROM AUTHOR]

Published
2018
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40. Stable X Chromosome Reactivation in Female Human Induced Pluripotent Stem Cells

Author

Barakat, Tahsin Stefan, primary, Ghazvini, Mehrnaz, additional, de Hoon, Bas, additional, Li, Tracy, additional, Eussen, Bert, additional, Douben, Hannie, additional, van der Linden, Reinier, additional, van der Stap, Nathalie, additional, Boter, Marjan, additional, Laven, Joop S., additional, Galjaard, Robert-Jan, additional, Grootegoed, J. Anton, additional, de Klein, Annelies, additional, and Gribnau, Joost, additional

Published
2015
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45. Structural and numerical changes of chromosome X in patients with esophageal atresia

Author

Brosens, Erwin, primary, de Jong, Elisabeth M, additional, Barakat, Tahsin Stefan, additional, Eussen, Bert H, additional, D'haene, Barbara, additional, De Baere, Elfride, additional, Verdin, Hannah, additional, Poddighe, Pino J, additional, Galjaard, Robert-Jan, additional, Gribnau, Joost, additional, Brooks, Alice S, additional, Tibboel, Dick, additional, and de Klein, Annelies, additional

Published
2014
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46. A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus

Author

Oei, Ling, primary, Hsu, Yi-Hsiang, additional, Styrkarsdottir, Unnur, additional, Eussen, Bert H, additional, de Klein, Annelies, additional, Peters, Marjolein J, additional, Halldorsson, Bjarni, additional, Liu, Ching-Ti, additional, Alonso, Nerea, additional, Kaptoge, Stephen K, additional, Thorleifsson, Gudmar, additional, Hallmans, Göran, additional, Hocking, Lynne J, additional, Husted, Lise Bjerre, additional, Jameson, Karen A, additional, Kruk, Marcin, additional, Lewis, Joshua R, additional, Patel, Millan S, additional, Scollen, Serena, additional, Svensson, Olle, additional, Trompet, Stella, additional, van Schoor, Natasja M, additional, Zhu, Kun, additional, Buckley, Brendan M, additional, Cooper, Cyrus, additional, Ford, Ian, additional, Goltzman, David, additional, González-Macías, Jesús, additional, Langdahl, Bente Lomholt, additional, Leslie, William D, additional, Lips, Paul, additional, Lorenc, Roman S, additional, Olmos, José M, additional, Pettersson-Kymmer, Ulrika, additional, Reid, David M, additional, Riancho, José A, additional, Slagboom, P Eline, additional, Garcia-Ibarbia, Carmen, additional, Ingvarsson, Thorvaldur, additional, Johannsdottir, Hrefna, additional, Luben, Robert, additional, Medina-Gómez, Carolina, additional, Arp, Pascal, additional, Nandakumar, Kannabiran, additional, Palsson, Stefan Th, additional, Sigurdsson, Gunnar, additional, van Meurs, Joyce B J, additional, Zhou, Yanhua, additional, Hofman, Albert, additional, Jukema, J Wouter, additional, Pols, Huibert A P, additional, Prince, Richard L, additional, Cupples, L Adrienne, additional, Marshall, Christian R, additional, Pinto, Dalila, additional, Sato, Daisuke, additional, Scherer, Stephen W, additional, Reeve, Jonathan, additional, Thorsteinsdottir, Unnur, additional, Karasik, David, additional, Richards, J Brent, additional, Stefansson, Kari, additional, Uitterlinden, André G, additional, Ralston, Stuart H, additional, Ioannidis, John P A, additional, Kiel, Douglas P, additional, Rivadeneira, Fernando, additional, and Estrada, Karol, additional

Published
2013
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49. 5q11.2 deletion in a patient with tracheal agenesis

Author

de Jong, Elisabeth M, primary, Douben, Hannie, additional, Eussen, Bert H, additional, Felix, Janine F, additional, Wessels, Marja W, additional, Poddighe, Pino J, additional, Nikkels, Peter G J, additional, de Krijger, Ronald R, additional, Tibboel, Dick, additional, and de Klein, Annelies, additional

Published
2010
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