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4 results on '"Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]"'

1. Genotype-Specific Abnormalities in Mitochondrial Function Associate with Distinct Profiles of Energy Metabolism and Catecholamine Content in Pheochromocytoma and Paraganglioma

Author

Arjen R. Mensenkamp, Ron A. Wevers, Jyotsna U. Rao, Angelina G. Goudswaard, Henricus P.M. Kunst, Udo F. H. Engelke, Karel Pacak, Graeme Eisenhofer, Nan Qin, Ad Hermus, Jacques W. M. Lenders, Richard J. Rodenburg, Henri J. L. M. Timmers, Benno Kusters, and Fred C.G.J. Sweep

Subjects
Male, Cancer Research, SDHB, Adrenal Gland Neoplasms, Succinic Acid, DCN PAC - Perception action and control, Mitochondrion, Catecholamines, 0302 clinical medicine, Paraganglioma, Citrate synthase, 0303 health sciences, Cardiovascular diseases [NCEBP 14], Electron Transport Complex II, Succinate dehydrogenase, Middle Aged, Mitochondria, 3. Good health, Mitochondrial medicine [IGMD 8], Oncology, 030220 oncology & carcinogenesis, Female, medicine.drug, Adult, medicine.medical_specialty, Adolescent, Genotype, Pheochromocytoma, Biology, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, Internal medicine, ONCOL 3 - Translational research DCN MP - Plasticity and memory, medicine, Humans, Glycostation disorders [DCN PAC - Perception action and control IGMD 4], DCN NN - Brain networks and neuronal communication, 030304 developmental biology, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], Hormonal regulation [IGMD 6], Glycostation disorders [IGMD 4], medicine.disease, Endocrinology, Hereditary cancer and cancer-related syndromes Genomic disorders and inherited multi-system disorders [ONCOL 1], biology.protein, Catecholamine, Hormonal regulation Aetiology, screening and detection [IGMD 6], SDHD, Energy Metabolism
Abstract

Purpose: Pheochromocytomas and paragangliomas (PGL) are neuroendocrine tumors of sympathetic and parasympathetic paraganglia. This study investigated the relationships between genotype-specific differences in mitochondrial function and catecholamine content in PGL tumors. Experimental Design: Respiratory chain enzyme assays and 1H-nuclear magnetic resonance (NMR) spectroscopy at 500 MHz were conducted on homogenates of 35 sporadic PGLs and 59 PGLs from patients with hereditary mutations in succinate dehydrogenase subunits B and D (SDHB, SDHD), succinate dehydrogenase assembly factor 2, von Hippel-Lindau (VHL), rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and myc-associated factor X. Results: In SDHx-related PGLs, a significant decrease in complex II activity (P < 0.0001) and a significant increase in complex I, III, and IV enzyme activities were observed when compared to sporadic, RET, and NF1 tumors. Also, a significant increase in citrate synthase (P < 0.0001) enzyme activity was observed in SDHx-related PGLs when compared to sporadic-, VHL-, RET-, and NF1-related tumors. An increase in succinate accumulation (P < 0.001) and decrease in ATP/ADP/AMP accumulation (P < 0.001) was observed when compared to sporadic PGLs and PGLs of other genotypes. Positive correlations (P < 0.01) were observed between respiratory chain complex II activity and total catecholamine content and ATP/ADP/AMP and total catecholamine contents in tumor tissues. Conclusions: This study for the first time establishes a relationship between determinants of energy metabolism, like activity of respiratory chain enzyme complex II, ATP/ADP/AMP content, and catecholamine content in PGL tumors. Also, this study for the first time successfully uses NMR spectroscopy to detect catecholamines in PGL tumors and provides ex vivo evidence for the accumulation of succinate in PGL tumors with an SDHx mutation. Clin Cancer Res; 19(14); 3787–95. ©2013 AACR.

Published
2013
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2. Hereditary leiomyomatosis and renal cell cancer presenting as metastatic kidney cancer at 18 years of age: implications for surveillance

Author

Sjoukje F. Oosting, Sjoerd Hovenga, Harry J. F. Semmelink, Arjen R. Mensenkamp, R. Jeroen A. van Moorselaar, Fred H. Menko, Sadhanna Badeloe, Karin Y. van Spaendonck-Zwarts, Jan Hein T.M. van Waesberghe, Urology, Radiology and nuclear medicine, Human genetics, CCA - Innovative therapy, and Guided Treatment in Optimal Selected Cancer Patients (GUTS)

Subjects
Male, Oncology, medicine.medical_specialty, Pathology, Cancer Research, Adolescent, CARCINOMA, urologic and male genital diseases, AGGRESSIVE FORM, PATIENT, HLRCC, FH, FAMILIES, Diagnosis, Differential, TUMOR SYNDROME, Leiomyomatosis, Germline mutation, Internal medicine, Epidemiology, Carcinoma, medicine, Genetics, Humans, Genetic Predisposition to Disease, Genetics(clinical), Papillary renal cancer, FUMARATE-HYDRATASE, UTERINE LEIOMYOMATA, Carcinoma, Renal Cell, Genetics (clinical), Hereditary leiomyomatosis, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], business.industry, Cancer, HYDRATASE GERMLINE MUTATION, Prognosis, medicine.disease, Kidney Neoplasms, Human genetics, Pedigree, Review Literature as Topic, Female, Original Article, Cell cancer, Differential diagnosis, business, Fumarate hydratase
Abstract

Item does not contain fulltext Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant syndrome characterized by skin piloleiomyomas, uterine leiomyomas and papillary type 2 renal cancer caused by germline mutations in the fumarate hydratase (FH) gene. Previously, we proposed renal imaging for FH mutation carriers starting at the age of 20 years. However, recently an 18-year-old woman from a Dutch family with HLRCC presented with metastatic renal cancer. We describe the patient and family data, evaluate current evidence on renal cancer risk and surveillance in HLRCC and consider the advantages and disadvantages of starting surveillance for renal cancer in childhood. We also discuss the targeted therapies administered to our patient.

Published
2012
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3. ATL1 and REEP1 mutations in hereditary and sporadic upper motor neuron syndromes

Author

Jan H. Veldink, L.H. van den Berg, Hubertus P. H. Kremer, B.P.C. van de Warrenburg, Arjen R. Mensenkamp, Sascha Vermeer, Erik-Jan Kamsteeg, Hans Scheffer, Frans Brugman, S.T. de Bot, and Molecular Neuroscience and Ageing Research (MOLAR)

Subjects
Male, Neurology, medicine.disease_cause, Cohort Studies, 0302 clinical medicine, Spastic, Non-U.S. Gov't, Genetics, 0303 health sciences, Mutation, Econometric and Statistical Methods: General, Upper motor neuron, Geneeskunde (GENK), Research Support, Non-U.S. Gov't, DOMINANT SPASTIC PARAPLEGIA, SPG3A, Middle Aged, Pedigree, medicine.anatomical_structure, Upper motor neuron syndrome, LATERAL-SCLEROSIS, Female, Paraplegia, Adult, Atlastin, medicine.medical_specialty, Adolescent, Hereditary spastic paraplegia, DCN MP - Plasticity and memory, FREQUENT, Research Support, Medical sciences, Genomic disorders and inherited multi-system disorders DCN MP - Plasticity and memory [IGMD 3], Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, 03 medical and health sciences, ATL1, Hereditary Spastic Paraplegia, GTP-Binding Proteins, Genetic screening, medicine, Journal Article, Humans, Bescherming en bevordering van de menselijke gezondheid, Motor Neuron Disease, Geneeskunde(GENK), Aged, Retrospective Studies, 030304 developmental biology, SPECTRUM, ATLASTIN, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], business.industry, Membrane Proteins, Membrane Transport Proteins, medicine.disease, Sporadic, General [Econometric and Statistical Methods], nervous system diseases, Upper motor neuron disease, ONSET, REEP1, Neurology (clinical), business, Neuroscience, 030217 neurology & neurosurgery
Abstract

Item does not contain fulltext SPAST mutations are the most common cause of autosomal dominant hereditary spastic paraplegias (AD-HSPs), but many spastic paraplegia patients are found to carry no mutations in this gene. In order to assess the contribution of ATL1 and REEP1 in AD-HSP, we performed mutational analysis in 27 SPAST-negative AD-HSP families. We found three novel ATL1 mutations and one REEP1 mutation in five index-patients. In 110 patients with sporadic adult-onset upper motor neuron syndromes, a novel REEP1 mutation was identified in one patient. Apart from a significantly younger age at onset in ATL1 patients and restless legs in some, the clinical phenotype of ATL1 and REEP1 was similar to other pure AD-HSPs.

Published
2013

4. MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

Author

Patricia L. M. Dahia, Maurizio Castellano, Nicole Reisch, Carli M. J. Tops, N. Abermil, Marta Barontini, Graeme Eisenhofer, Sandra Bernaldo de Quirós, Salud Borrego, Álvaro Gómez-Graña, Nelly Burnichon, M. Giacchè, Mercedes Robledo, Emiliano Honrado, Giuseppe Opocher, Francesca Schiavi, Xavier Girerd, Elena Rapizzi, Lucía Inglada-Pérez, Esther Korpershoek, Henri J L M Timmers, Massimo Mannelli, Encarna B. Gomez-Garcia, Elisa Taschin, María-Dolores Chiara, Sara Bobisse, Alberto Cascón, Peggy Pierre, Carlos Suárez, Alexander P.A. Stegmann, Arjen R. Mensenkamp, Felix Beuschlein, Luigi Mori, Iñaki Comino-Méndez, Marinus J. Blok, Laurence Amar, Arnaud Murat, Macarena Ruiz-Ferrer, Ronald R. de Krijger, F Schillo, Frederik J. Hes, Karel Pacak, Nicole Paes Morales, Tonino Ercolino, Jacques W.M. Lenders, Rocío Letón, Miguel Urioste, Eleonora P M Corssmit, Isabelle Guilhem, Nan Qin, Anne-Paule Gimenez-Roqueplo, Giovanna Roncador, Pierre-François Plouin, Tamara Prodanov, Yves-Jean Bignon, Victoria M. Raymond, Jérôme Bertherat, Miguel Quesada-Charneco, Anna Merlo, Aguirre A. de Cubas, Philippe Chanson, Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de génétique [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Service d'Endocrinologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Centre de Référence pour les Maladies Rares, Laboratoire de diagnostic génétique et moléculaire, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Equipe de recherche sur les traitements individualisés des cancers (ERTICa), Université d'Auvergne - Clermont-Ferrand I (UdA), Clinical Genetics, Maastricht University Medical Centre (MUMC), Maastricht University [Maastricht]-Maastricht University [Maastricht], School for Oncology & Developmental Biology (GROW), Department of Genetics, Reproduction and Fetal Medicine, Universidad de Sevilla / University of Sevilla-Institute of Biomedicine of Seville (IBIS)-Hospital Universitario Virgen del Rocío [Sevilla], Centre for Biomedical Network Research on Rare Diseases (CIBERER), Récepteurs stéroïdiens : physiopathologie endocrinienne et métabolique, Université Paris-Sud - Paris 11 (UP11)-IFR93-Institut National de la Santé et de la Recherche Médicale (INSERM), Departments of Pathology, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Centre Hospitalier Universitaire [Rennes], Laboratoire de Neurosciences Cognitives [Marseille] (LNC), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Beijing Genomics Institute [Shenzhen] (BGI), Monoclonal antibodies unit, Centro Nacional de Investigaciones Oncológicas, Group of Human Genetics, Spanish National Cancer Research Center (CNIO), Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS & Department of Medical and Surgical Sciences, Università degli Studi di Padova = University of Padua (Unipd), Carl Gustav Carus University Hospital, Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, MUMC+: DA KG Lab Centraal Lab (9), Klinische Genetica, Genetica & Celbiologie, RS: GROW - School for Oncology and Reproduction, Université Paris Descartes - Paris 5 (UPD5)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Cochin [AP-HP]-Centre de Référence pour les Maladies Rares, Centre Jean Perrin, Maastricht University Medical Center (MUMC), Universidad de Sevilla-Hospital Universitario Virgen del Rocío [Sevilla]-Institute of Biomedicine of Seville (IBIS), Human Cancer Genetics Program, Spanish National Cancer Centre (CNIO), Universita degli Studi di Padova, Centro Nacional de Investigaciones Oncológicas, CNIO, Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR93-Université Paris-Sud - Paris 11 (UP11), Centre National de la Recherche Scientifique (CNRS)-Aix Marseille Université (AMU), Pathology, Pediatrics, Clinical sciences, Medical Genetics, Paris-Centre de Recherche Cardiovasculaire ( PARCC - U970 ), Université Paris Descartes - Paris 5 ( UPD5 ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Université Paris Descartes - Paris 5 ( UPD5 ), Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP]-Centre de Référence pour les Maladies Rares, Equipe de recherche sur les traitements individualisés des cancers ( ERTICa ), Université d'Auvergne - Clermont-Ferrand I ( UdA ), Maastricht University Medical Center (MUMC+), Universidad de Sevilla-University Hospital Virgen del Rocio-Institute of Biomedicine of Seville (IBIS), Université Paris-Sud - Paris 11 ( UP11 ) -IFR93-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Erasmus MC-University Medical Center, Laboratoire de Neurosciences Cognitives [Marseille] ( LNC ), Aix Marseille Université ( AMU ) -Centre National de la Recherche Scientifique ( CNRS ), Beijing Genomics Institute [Shenzhen] ( BGI ), and Beijing Genomics Institute

Subjects
Male, Pheochromocytoma, Genetics, Cancer Research, Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics, MESH : Germ-Line Mutation, Somatic cell, MESH: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MESH : Aged, Adrenal Gland Neoplasms, MESH : Child, Preschool, medicine.disease_cause, Germline, MESH : Pheochromocytoma, 0302 clinical medicine, MESH: Aged, 80 and over, MESH : Child, Paraganglioma, MESH: Child, MESH: Germ-Line Mutation, MESH : Female, Child, Aged, 80 and over, MESH: Aged, 0303 health sciences, Mutation, MESH: Middle Aged, Cardiovascular diseases [NCEBP 14], Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, MESH: Genetic Predisposition to Disease, MESH : Adult, Middle Aged, MESH : Paraganglioma, Phenotype, 3. Good health, Oncology, MESH: Young Adult, 030220 oncology & carcinogenesis, Child, Preschool, Female, MESH : Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, Adult, MESH: Paraganglioma, Adolescent, MESH : Adrenal Gland Neoplasms, MESH : Male, MESH : Young Adult, Biology, 03 medical and health sciences, Young Adult, Germline mutation, SDG 3 - Good Health and Well-being, MESH : Adolescent, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, medicine, Adrenal Gland Neoplasms/genetics, Humans, MESH : Middle Aged, Genetic Predisposition to Disease, MESH: Pheochromocytoma, MESH : Aged, 80 and over, Germ-Line Mutation, 030304 developmental biology, Aged, MESH: Adolescent, MESH: Humans, Paraganglioma/genetics, Genetic heterogeneity, Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3], MESH : Humans, Hormonal regulation [IGMD 6], MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Adrenal Gland Neoplasms, MESH: Male, Pheochromocytoma/genetics, Cancer research, MESH : Genetic Predisposition to Disease, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

11 pages, 2 figures, 2 tables.-- Burnichón, Nelly et al., Purpose: Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How MAX mutations contribute to PCC/PGL and associated phenotypes remain unclear. This study aimed to examine the prevalence and associated phenotypic features of germline and somatic MAX mutations in PCC/PGL., Design: We sequenced MAX in 1,694 patients with PCC or PGL (without mutations in other major susceptibility genes) from 17 independent referral centers. We screened for large deletions/duplications in 1,535 patients using a multiplex PCR-based method. Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics., Results: Sixteen MAX pathogenic mutations were identified in 23 index patients. All had adrenal tumors, including 13 bilateral or multiple PCCs within the same gland (P < 0.001), 15.8% developed additional tumors at thoracoabdominal sites, and 37% had familial antecedents. Age at diagnosis was lower (P = 0.001) in MAX mutation carriers compared with nonmutated cases. Two patients (10.5%) developed metastatic disease. A mutation affecting MAX was found in five tumors, four of them confirmed as somatic (1.65%). MAX tumors were characterized by substantial increases in normetanephrine, associated with normal or minor increases in metanephrine., Conclusions: Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients. ©2012 AACR.

Published
2012
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