Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

Bausch, Birke (författare): Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany

Borozdin, Wiktor (författare): Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany / Center of Human Genetics, Freiburg, Germany

Mautner, Victor F (författare): Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany

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Hoffmann, Michael M (författare): Department of Laboratory Medicine, University Medical Center Freiburg, D-79106 Freiburg, Germany

Boehm, Detlef (författare): Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany

Robledo, Mercedes (författare): Hereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain

Cascon, Alberto (författare): Hereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid, Spain

Harenberg, Tomas (författare): Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany

Schiavi, Francesca (författare): Istituto Oncologico Veneto Instituto di Ricovero e Cura a Carattere Scientifico, Padova, Italy

Pawlu, Christian (författare): Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany

Peczkowska, Mariola (författare): Department of Hypertension, Institute of Cardiology, Warsaw, Poland

Letizia, Claudio (författare): Department of Clinical Sciences, University of Rome La Sapienza, Rome, Italy

Calvieri, Stefano (författare): Department of Dermatology, University of Rome La Sapienza, Rome, Italy

Arnaldi, Giorgio (författare): Department of Endocrinology, Azienda Ospedaliero-Universitaria Ospedali Riuniti di Ancona, Ancona, Italy

Klingenberg-Noftz, Rolf D (författare): Medical Clinic I, Universitätsklinikum Schleswig-Holstein, Campus Lübeck, Lübeck, Germany

Reisch, Nicole (författare): Department of Endocrinology, Ludwig-Maximilians-University of Munich, Munich, Germany

Fassina, Ambrogio (författare): Department of Pathology, University of Padova, Padova, Italy

Brunaud, Laurent (författare): Department of Digestive and Endocrine Surgery, University Hospital Nancy, University of Nancy, Nancy, France

Walter, Martin A (författare): Institute of Nuclear Medicine, Division of Endocrinology, University of Basel, Basel, Switzerland

Mannelli, Massimo (författare): Department of Clinical Pathophysiology, Endocrine Unit, University of Florence, Florence, Italy

MacGregor, Graham (författare): Blood Pressure Unit, Department of Cardiovascular Sciences, St. George’s University, London, United Kingdom

Palazzo, F Fausto (författare): Endocrine Surgery Unit, Hammersmith Hospital, London, United Kingdom

Barontini, Marta (författare): Centro de Investigaciones Endocrinologicas-Consejo Nacional de Investigaciones Científicas y Técnicas, Buenos Aires, Argentina

Walz, Martin K (författare): Department of Surgery, Kliniken Essen-Mitte, Essen, Germany

Kremens, Bernhard (författare): Department of Pediatrics, University of Essen, Essen, Germany

Brabant, Georg (författare): Department of Endocrinology, Medizinische Hochschule, Hannover, Germany

Pfäffle, Roland (författare): Department of Pediatrics, University of Leipzig, Leipzig, Germany

Koschker, Ann-Cathrin (författare): Department of Internal Medicine I-Endocrine and Diabetes, University of Wuerzburg, Wuerzburg, Germany

Lohoefner, Felix (författare): Department of Surgery, Hospital of the German Red Cross, Berlin, Germany

Mohaupt, Markus (författare): Department of Nephrology and Hypertension, University of Berne, Berne, Switzerland

Gimm, Oliver (författare): Department of Visceral Surgery, University of Halle, Halle, Germany

Jarzab, Barbara (författare): Department of Nuclear Medicine and Endocrine Oncology, M. Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Gliwice, Poland

McWhinney, Sarah R (författare): Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA / Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA

Opocher, Giuseppe (författare): Istituto Oncologico Veneto Instituto di Ricovero e Cura a Carattere Scientifico, Padova, Italy

Januszewicz, Andrzej (författare): Department of Hypertension, Institute of Cardiology, Warsaw, Poland

Kohlhase, Jürgen (författare): Institute for Human Genetics and Anthropology, University of Freiburg, Freiburg, Germany / Center of Human Genetics, Freiburg, Germany

Eng, Charis (författare): Genomic Medicine Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA / Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA

Neumann, Hartmut P H (författare): Department of Nephrology, University Medical Center Freiburg, D-79106 Freiburg, Germany

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(creator_code:org_t)

The Endocrine Society, 2007
2007
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 92:7, s. 2784-92

Relaterad länk:: https://academic.oup...; visa fler...; https://urn.kb.se/re...; https://doi.org/10.1...; visa färre...

Tidskriftsartikel (refereegranskat)

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BACKGROUND: Neurofibromatosis type 1 (NF1) is a pheochromocytoma-associated syndrome. Because of the low prevalence of pheochromocytoma in NF1, we ascertained subjects by pheochromocytoma that also had NF1 in the hope of describing the germline NF1 mutational spectra of NF1-related pheochromocytoma.MATERIALS AND METHODS: An international registry for NF1-pheochromocytomas was established. Mutation scanning was performed using denaturing HPLC for intragenic variation and quantitative PCR for large deletions. Loss-of-heterozygosity analysis using markers in and around NF1 was performed.RESULTS: There were 37 eligible subjects (ages 14-70 yr). Of 21 patients with corresponding tumor available, 67% showed somatic loss of the nonmutated allele at the NF1 locus vs. 0 of 12 sporadic tumors (P = 0.0002). Overall, 86% of the 37 patients had exonic or splice site mutations, 14% large deletions or duplications; 79% of the mutations are novel. The cysteine-serine rich domain (CSR) was affected in 35% but the RAS GTPase activating protein domain (RGD) in only 13%. There did not appear to be an association between any clinical features, particularly pheochromocytoma presentation and severity, and NF1 mutation genotype.CONCLUSIONS: The germline NF1 mutational spectra comprise intragenic mutations and deletions in individuals with pheochromocytoma and NF1. NF1 mutations tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in individuals with NF1-pheochromocytoma than in NF1 individuals without this tumor. Loss-of-heterozygosity of NF1 markers in NF1-related pheochromocytoma was significantly more frequent than in sporadic pheochromocytoma, providing further molecular evidence that pheochromocytoma is a true component of NF1.

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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.

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