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  1. Article ; Online: Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes.

    Bayley, Jean-Pierre / Devilee, Peter

    Genes

    2022  Volume 13, Issue 6

    Abstract: Despite two decades of paraganglioma-pheochromocytoma research, the fundamental question of how the different succinate dehydrogenase (SDH)-related tumor phenotypes are initiated has remained unanswered. Here, we discuss two possible scenarios by which ... ...

    Abstract Despite two decades of paraganglioma-pheochromocytoma research, the fundamental question of how the different succinate dehydrogenase (SDH)-related tumor phenotypes are initiated has remained unanswered. Here, we discuss two possible scenarios by which missense (hypomorphic alleles) or truncating (null alleles) SDH gene variants determine clinical phenotype. Dysfunctional SDH is a major source of reactive oxygen species (ROS) but ROS are inhibited by rising succinate levels. In scenario 1, we propose that SDH missense variants disrupt electron flow, causing elevated ROS levels that are toxic in sympathetic PPGL precursor cells but well controlled in oxygen-sensing parasympathetic paraganglion cells. We also suggest that SDHAF2 variants, solely associated with HNPGL, may cause the reversal of succinate dehydrogenase to fumarate reductase, producing very high ROS levels. In scenario 2, we propose a modified succinate threshold model of tumor initiation. Truncating SDH variants cause high succinate accumulation and likely initiate tumorigenesis via disruption of 2-oxoglutarate-dependent enzymes in both PPGL and HNPGL precursor tissues. We propose that missense variants (including SDHAF2) cause lower succinate accumulation and thus initiate tumorigenesis only in very metabolically active tissues such as parasympathetic paraganglia, which naturally show very high levels of succinate.
    MeSH term(s) Adrenal Gland Neoplasms/genetics ; Cell Transformation, Neoplastic ; Humans ; Phenotype ; Pheochromocytoma/genetics ; Pheochromocytoma/pathology ; Reactive Oxygen Species ; Succinate Dehydrogenase/genetics ; Succinates ; Transcription Factors/genetics
    Chemical Substances Reactive Oxygen Species ; Succinates ; Transcription Factors ; Succinate Dehydrogenase (EC 1.3.99.1)
    Language English
    Publishing date 2022-06-07
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13061025
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Hypothesis: Why Different Types of SDH Gene Variants Cause Divergent Tumor Phenotypes

    Bayley, Jean-Pierre / Devilee, Peter

    Genes. 2022 June 07, v. 13, no. 6

    2022  

    Abstract: Despite two decades of paraganglioma-pheochromocytoma research, the fundamental question of how the different succinate dehydrogenase (SDH)-related tumor phenotypes are initiated has remained unanswered. Here, we discuss two possible scenarios by which ... ...

    Abstract Despite two decades of paraganglioma-pheochromocytoma research, the fundamental question of how the different succinate dehydrogenase (SDH)-related tumor phenotypes are initiated has remained unanswered. Here, we discuss two possible scenarios by which missense (hypomorphic alleles) or truncating (null alleles) SDH gene variants determine clinical phenotype. Dysfunctional SDH is a major source of reactive oxygen species (ROS) but ROS are inhibited by rising succinate levels. In scenario 1, we propose that SDH missense variants disrupt electron flow, causing elevated ROS levels that are toxic in sympathetic PPGL precursor cells but well controlled in oxygen-sensing parasympathetic paraganglion cells. We also suggest that SDHAF2 variants, solely associated with HNPGL, may cause the reversal of succinate dehydrogenase to fumarate reductase, producing very high ROS levels. In scenario 2, we propose a modified succinate threshold model of tumor initiation. Truncating SDH variants cause high succinate accumulation and likely initiate tumorigenesis via disruption of 2-oxoglutarate-dependent enzymes in both PPGL and HNPGL precursor tissues. We propose that missense variants (including SDHAF2) cause lower succinate accumulation and thus initiate tumorigenesis only in very metabolically active tissues such as parasympathetic paraganglia, which naturally show very high levels of succinate.
    Keywords carcinogenesis ; neoplasms ; phenotype ; reactive oxygen species ; succinate dehydrogenase (quinone) ; succinic acid ; threshold models ; toxicity
    Language English
    Dates of publication 2022-0607
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes13061025
    Database NAL-Catalogue (AGRICOLA)

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  3. Book ; Thesis: The allele specific expression of cytokine genes

    Bayley, Jean-Pierre Louis

    2003  

    Author's details door Jean-Pierre Louis Bayley
    Language English ; Dutch
    Size 109 S. : Ill., graph. Darst.
    Publishing country Netherlands
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Leiden, Univ., Diss., 2003
    Note Zsfassung in niederländ. Sprache ; Enth. 4 Sonderabdr. aus verschiedenen Zeitschr.
    HBZ-ID HT015519532
    Database Catalogue ZB MED Medicine, Health

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    In stock of ZB MED Cologne/Königswinter

    Shelf markLoan statusLocation
    2008 E 376 order for loan Magazin

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  4. Article: SDHAF2

    de Jong, Monique A M / Corssmit, Eleonora P M / Jansen, Jeroen C / Potjer, Thomas P / Bayley, Jean-Pierre L / Hensen, Erik F

    Case reports in otolaryngology

    2024  Volume 2024, Page(s) 2111531

    Abstract: Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed ... ...

    Abstract Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that
    Language English
    Publishing date 2024-03-20
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2648756-1
    ISSN 2090-6773 ; 2090-6765
    ISSN (online) 2090-6773
    ISSN 2090-6765
    DOI 10.1155/2024/2111531
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Advances in paraganglioma-pheochromocytoma cell lines and xenografts.

    Bayley, Jean-Pierre / Devilee, Peter

    Endocrine-related cancer

    2020  Volume 27, Issue 12, Page(s) R433–R450

    Abstract: This review describes human and rodent-derived cell lines and xenografts developed over the last five decades that are suitable or potentially suitable models for paraganglioma-pheochromocytoma research. We outline the strengths and weaknesses of various ...

    Abstract This review describes human and rodent-derived cell lines and xenografts developed over the last five decades that are suitable or potentially suitable models for paraganglioma-pheochromocytoma research. We outline the strengths and weaknesses of various models and emphasize the recurring theme that, despite the major challenges involved, more effort is required in the search for valid human and animal cell models of paraganglioma-pheochromocytoma, particularly those relevant to cancers carrying a mutation in one of the succinate dehydrogenase genes. Despite many setbacks, the recent development of a potentially important new model, the RS0 cell line, gives reason for optimism regarding the future of models in the paraganglioma-pheochromocytoma field. We also note that classic approaches to cell line derivation such as SV40-mediated immortalization and newer approaches such as organoid culture or iPSCs have been insufficiently explored. As many existing cell lines have been poorly characterized, we provide recommendations for reporting of paraganglioma and pheochromocytoma cell lines, including the strong recommendation that cell lines are made widely available via the ATCC or a similar cell repository. Basic research in paraganglioma-pheochromocytoma is currently transitioning from the analysis of genetics to the analysis of disease mechanisms and the clinically exploitable vulnerabilities of tumors. A successful transition will require many more disease-relevant human and animal models to ensure continuing progress.
    MeSH term(s) Animals ; Cell Line, Tumor ; Disease Models, Animal ; Humans ; Mice ; Paraganglioma/genetics ; Pheochromocytoma/genetics ; Rats ; Xenograft Model Antitumor Assays
    Language English
    Publishing date 2020-10-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1218450-0
    ISSN 1479-6821 ; 1351-0088
    ISSN (online) 1479-6821
    ISSN 1351-0088
    DOI 10.1530/ERC-19-0434
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 4192: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
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  6. Article: Optimal Screening for Hereditary Head and Neck Paraganglioma in Asymptomatic SDHx Variant Carriers in the Netherlands

    Heesters, Anouk Frederique / Tops, Carli / Potjer, Thomas / Corssmit, Eleonora P.M. / Bayley, Jean-Pierre / Hensen, Erik / Jansen, Jeroen

    Journal of Neurological Surgery Part B: Skull Base

    2024  

    Abstract: Background: SDHx variant carriers have an increased risk of developing head and neck paraganglioma. The Dutch guidelines state that these patients require lifelong follow-up, but no clear recommendation is made about the frequency of screening.: ... ...

    Abstract Background: SDHx variant carriers have an increased risk of developing head and neck paraganglioma. The Dutch guidelines state that these patients require lifelong follow-up, but no clear recommendation is made about the frequency of screening.
    Objective: To determine the annual risk of developing head and neck paraganglioma in SDHx variant carriers after a negative initial screening.
    Methods: We conducted a retrospective single-center cohort study in the Netherlands that included 49 SDHA, SDHB, and SDHD variant carriers with a negative first screening and at least one follow-up. The main outcome measure was the annual risk of developing a paraganglioma for the SDHx variants separately.
    Results: Between 2000 and 2022, nine patients developed a paraganglioma all of whom were carriers of a SDHD variant ( n  = 23). Neither the 24 SDHB-related cases nor the 2 SDHA variant carriers developed a paraganglioma after a median of 4.83 and 5.92 years of follow-up, respectively.
    Conclusion: The 5-year risk for head and neck paragangliomas in pathological SDHx variant carriers is less than 20%. A 5-year interval for screening SDHx carriers seems sufficient to prevent the unnoticed development of head and neck paragangliomas that warrant treatment.
    Keywords paraganglioma ; hereditary ; SDHA ; SDHB ; SDHD ; screening
    Language English
    Publishing date 2024-03-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2654269-9
    ISSN 2193-634X ; 2193-6331
    ISSN (online) 2193-634X
    ISSN 2193-6331
    DOI 10.1055/s-0044-1781438
    Database Thieme publisher's database

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    Zs.A 3425: Show issues Location:
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  7. Article ; Online: Succinate dehydrogenase gene variants and their role in Cowden syndrome.

    Bayley, Jean-Pierre

    American journal of human genetics

    2011  Volume 88, Issue 5, Page(s) 674–5; author reply 676

    MeSH term(s) Genetic Variation ; Germ-Line Mutation ; Hamartoma Syndrome, Multiple/genetics ; Hamartoma Syndrome, Multiple/pathology ; Humans ; Succinate Dehydrogenase/genetics ; Succinate Dehydrogenase/metabolism
    Chemical Substances SDHD protein, human ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Language English
    Publishing date 2011-05-03
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2010.12.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 107: Show issues Location:
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  8. Article ; Online: Are these compound heterozygous mutations of SDHB really mutations?

    Bayley, Jean-Pierre

    Pediatric blood & cancer

    2010  Volume 55, Issue 1, Page(s) 211; author reply 212

    MeSH term(s) Brain Neoplasms/enzymology ; Brain Neoplasms/genetics ; DNA, Neoplasm/genetics ; Heterozygote ; Humans ; Mutation/genetics ; Mutation, Missense/genetics ; Paraganglioma/enzymology ; Paraganglioma/genetics ; RNA Splice Sites/genetics ; Succinate Dehydrogenase/genetics
    Chemical Substances DNA, Neoplasm ; RNA Splice Sites ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1)
    Language English
    Publishing date 2010-07-15
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 2131448-2
    ISSN 1545-5017 ; 1545-5009
    ISSN (online) 1545-5017
    ISSN 1545-5009
    DOI 10.1002/pbc.22455
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 1131: Show issues Location:
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  9. Article ; Online: Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.

    Bayley, Jean-Pierre / Rebel, Heggert G / Scheurwater, Kimberly / Duesman, Dominique / Zhang, Juan / Schiavi, Francesca / Korpershoek, Esther / Jansen, Jeroen C / Schepers, Abbey / Devilee, Peter

    PloS one

    2022  Volume 17, Issue 9, Page(s) e0274478

    Abstract: The neuroendocrine tumours paraganglioma and pheochromocytoma (PPGLs) are commonly associated with succinate dehydrogenase (SDH) gene variants, but no human SDH-related PPGL-derived cell line has been developed to date. The aim of this study was to ... ...

    Abstract The neuroendocrine tumours paraganglioma and pheochromocytoma (PPGLs) are commonly associated with succinate dehydrogenase (SDH) gene variants, but no human SDH-related PPGL-derived cell line has been developed to date. The aim of this study was to systematically explore practical issues related to the classical 2D-culture of SDH-related human paragangliomas and pheochromocytomas, with the ultimate goal of identifying a viable tumour-derived cell line. PPGL tumour tissue/cells (chromaffin cells) were cultured in a variety of media formulations and supplements. Tumour explants and dissociated primary tumour cells were cultured and stained with a range of antibodies to identify markers suitable for use in human PPGL culture. We cultured 62 PPGLs, including tumours with confirmed SDHB, SDHC and SDHD variants, as well as several metastatic tumours. Testing a wide range of basic cell culture media and supplements, we noted a marked decline in chromaffin cell numbers over a 4-8 week period but the persistence of small numbers of synaptophysin/tyrosine hydroxylase-positive chromaffin cells for up to 99 weeks. In cell culture, immunohistochemical staining for chromogranin A and neuron-specific enolase was generally negative in chromaffin cells, while staining for synaptophysin and tyrosine hydroxylase was generally positive. GFAP showed the most consistent staining of type II sustentacular cells. Of the media tested, low serum or serum-free media best sustained relative chromaffin cell numbers, while lactate enhanced the survival of synaptophysin-positive cells. Synaptophysin-positive PPGL tumour cells persist in culture for long periods but show little evidence of proliferation. Synaptophysin was the most consistent cell marker for chromaffin cells and GFAP the best marker for sustentacular cells in human PPGL cultures.
    MeSH term(s) Adrenal Gland Neoplasms/pathology ; Chromogranin A/metabolism ; Culture Media, Serum-Free ; Germ-Line Mutation ; Humans ; Lactates ; Paraganglioma/genetics ; Paraganglioma/pathology ; Pheochromocytoma/pathology ; Phosphopyruvate Hydratase/metabolism ; Succinate Dehydrogenase/genetics ; Succinate Dehydrogenase/metabolism ; Synaptophysin/metabolism ; Tyrosine 3-Monooxygenase/metabolism
    Chemical Substances Chromogranin A ; Culture Media, Serum-Free ; Lactates ; SDHD protein, human ; Synaptophysin ; Tyrosine 3-Monooxygenase (EC 1.14.16.2) ; SDHB protein, human (EC 1.3.5.1) ; Succinate Dehydrogenase (EC 1.3.99.1) ; Phosphopyruvate Hydratase (EC 4.2.1.11)
    Language English
    Publishing date 2022-09-30
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2267670-3
    ISSN 1932-6203 ; 1932-6203
    ISSN (online) 1932-6203
    ISSN 1932-6203
    DOI 10.1371/journal.pone.0274478
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: The Warburg effect in 2012.

    Bayley, Jean-Pierre / Devilee, Peter

    Current opinion in oncology

    2012  Volume 24, Issue 1, Page(s) 62–67

    Abstract: Purpose of review: A revival of interest in tumor metabolism is underway and here we discuss recent results with a focus on the central theme of the Warburg effect, aerobic glycolysis.: Recent findings: The M2 tumor-specific isoform of pyruvate ... ...

    Abstract Purpose of review: A revival of interest in tumor metabolism is underway and here we discuss recent results with a focus on the central theme of the Warburg effect, aerobic glycolysis.
    Recent findings: The M2 tumor-specific isoform of pyruvate kinase has generated much interest, but it has now been reported that PKM2 is not specific to tumors. Despite this setback, the reciprocal regulation of PKM2, prolyl hydroxylase 3 and HIF-1 in a positive feedback loop shows that PKM2 is important to tumor metabolism. Hexokinase II was reported to be a crucial regulator of glycolysis in glioblastoma multiforme, and the importance of lactate dehydrogenase was underlined by evidence that a 'lactate-based dialog' exists between cancer cells and endothelial cells. A growing appreciation of the role of oncogenes and tumor suppressor genes in the Warburg effect was reflected in reports of the regulation of glutamine metabolism by p53, the role of c-Myc in the high glucose uptake of tumors, and the regulation of ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5) and ATP consumption by AKT. The sirtuins, SIRT3 and SIRT6, were also shown to play central roles in aerobic glycolysis and other aspects of tumor metabolism.
    Summary: The results discussed illustrate the growing integration of the previously distinct fields of molecular biological and metabolic cancer research and show that this synergy is beginning to yield a more complete and comprehensive understanding of the tumor cell.
    MeSH term(s) Aerobiosis ; DNA-Binding Proteins/metabolism ; Glycolysis/physiology ; Hexokinase/metabolism ; Humans ; L-Lactate Dehydrogenase/metabolism ; Neoplasms/metabolism ; Pyruvate Kinase/metabolism ; Sirtuins/metabolism ; Transcription Factors/metabolism ; Tumor Suppressor Protein p53/metabolism
    Chemical Substances DNA-Binding Proteins ; MYCBP protein, human ; TP53 protein, human ; Transcription Factors ; Tumor Suppressor Protein p53 ; L-Lactate Dehydrogenase (EC 1.1.1.27) ; Hexokinase (EC 2.7.1.1) ; Pyruvate Kinase (EC 2.7.1.40) ; Sirtuins (EC 3.5.1.-)
    Language English
    Publishing date 2012-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1049384-0
    ISSN 1531-703X ; 1040-8746
    ISSN (online) 1531-703X
    ISSN 1040-8746
    DOI 10.1097/CCO.0b013e32834deb9e
    Database MEDical Literature Analysis and Retrieval System OnLINE

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