Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10

Human Mutation - Tập 32 Số 1 - Trang 51-58 - 2011
Karin Frank‐Raue1,2, Lisa Rybicki3,2, Zoran Erlic4,2, Heiko Schweizer4,2, Aurelia Winter4, Ioana Milos5,4, S. P. A. Toledo6, Rodrigo A. Toledo6, Marcos Roberto Tavares7, Maria Alevizaki8, Caterina Mian9, Heide Siggelkow10, M. Hüfner11, Nelson Wohllk12, Giuseppe Opocher13, Šárka Dvořáková14, Běla Bendlová15, Małgorzata Czetwertyńska16, E. Skasko16, Marta Barontini17, Gabriela Sansó17, Christian Vorländer18, Ana Luiza Maia19, Attila Patócs20, Thera P. Links21, Jan Willem de Groot21, Michiel N. Kerstens21, Gerlof D. Valk22, Hamid Irannejad23, Thomas J. Musholt24, Josefina Biarnés25, Svetozar Damjanović26, Mihaela Mureşan27, Christian Wüster28, Martin Faßnacht29, Mariola Pęczkowska30, Christine Fauth31, Henriette Golcher32, Martin A. Walter33, J Pichl34, Friedhelm Raue1,35, Charis Eng36,35, Hartmut P.H. Neumann4,35
1Endocrine Practice and Molecular Laboratory, Heidelberg, Germany
2These authors contributed equally to this study
3Department of Quantitative Health Sciences and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio
4Section of Preventive Medicine, Department of Nephrology, University of Freiburg Medical Centre, Freiburg im Breisgau, Germany
5Department of Endocrinology of the University of Medicine and Pharmacy “Victor Babes” Timisoara, Romania
6Endocrine Genetics Unit (LIM-25), Endocrinology, Department of Internal Medicine, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
7Head and Neck Division, Department of Surgery, Hospital das Clinicas, University of Sao Paulo School of Medicine, Sao Paulo, Brazil
8Endocrine Unit, Department of Medical Therapeutics, Alexandra Hospital, University School of Medicine, Athens, Greece
9Operative Unit of Endocrinology Department of Surgical and Medical Sciences University of Padua, Padua, Italy
10Department of Gastroenterology and Endocrinology, University of Göttingen and Endokrinologikum, Göttingen, Germany
11Endokrinologikum, Göttingen, Germany
12Endocrine Section, Hospital del Salvador, Universidad de Chile, Santiago de Chile, Chile
13Familial Cancer Clinic, Veneto Institute of Oncology, IRCCS and Department of Medical and Surgical Sciences, University of Padova, Padova, Italy
14Department of Molecular Endocrinology of the Institute of Endocrinology Prague, Prague, Czech Republic
15Department of Nuclear Medicine and Oncological Endocrinology, Maria Sklodowska Curie Memorial Center and Institute of Oncology, Warsaw, Poland
16Department of Endocrinology, Maria Sklodowska Curie Memorial Center and Institute of Oncology, Warsaw, Poland
17Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina
18Department of Endocrine Surgery, Bürgerhospital, Frankfurt, Germany
19Thyroid Section, Endocrine Divison Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Brazil
20Molecular Medicine Research Group, Hungarian Academy of Sciences and 2nd Department of Medicine, Semmelweis University, Budapest, Hungary.
21University Medical Center Groningen, Department of Endocrinology, Groningen, The Netherlands
22Department of Internal Medicine, University Medical Center Utrecht, The Netherlands
23Department of Endocrinology, University Hospital of Leipzig, Leipzig, Germany
24Endocrine Surgery, Department of General and Abdominal Surgery, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany
25Endocrinology Unit, Hospital Dr. Josep Trueta de Girona, Girona, Spain
26Institute of Endocrinology, Diabetes and Metabolic Diseases, Medical School, University of Belgrade, Serbia
27Department of Endocrinology, Hôpital N.-D. de Bon Secours, Metz, France
28Private Praxis for Endocrinology, Mainz, Germany
29Department of Medicine I, University Hospital, University of Würzburg, Germany
30Department of Hypertension, Institute of Cardiology, Warsaw, Poland
31Division of Clinical Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
32Department of Surgery, Friedrich-Alexander University Hospital of Erlangen, Erlangen, Germany
33Institute of Nuclear Medicine, University Hospital, Basel, Switzerland
34St.Theresien-Hospital, Nuernberg, Germany
35These authors are senior authors.
36Genomic Medicine Institute, Lerner Research Institute, Taussig Cancer Institute, and Stanley Shalom Zielony Nursing Institute, Cleveland Clinic, Cleveland, Ohio

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Borrego, 1998, Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease, J Clin Endocrinol Metab, 83, 3361

Borrego, 2000, RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease, J Med Genet, 37, 572, 10.1136/jmg.37.8.572

Borrego, 1999, Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression, J Med Genet, 36, 771, 10.1136/jmg.36.10.771

Borrego, 2003, A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma, Am J Hum Genet, 72, 88, 10.1086/345466

Brandi, 2001, Guidelines for diagnosis and therapy of MEN type 1 and type 2, J Clin Endocrinol Metab, 86, 5658, 10.1210/jcem.86.12.8070

Butter, 2007, Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease, J Pediatr Surg, 42, 203, 10.1016/j.jpedsurg.2006.09.019

Calva, 2009, When is prophylactic thyroidectomy indicated for patients with the RET codon 609 mutation?, Ann Surg Oncol, 16, 2237, 10.1245/s10434-009-0524-3

DeLellis, 2004, World Healthe Organization Classifican of Tumours. Pathology and genetics of tumours of endocrine organs, 51

Elisei, 2007, RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center, J Clin Endocrinol Metab, 92, 4725, 10.1210/jc.2007-1005

Eng, 1996, The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis, JAMA, 276, 1575, 10.1001/jama.1996.03540190047028

Erlic, 2009, Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients, Clin Cancer Res, 15, 6378, 10.1158/1078-0432.CCR-09-1237

Fernandez, 2003, The RET C620S mutation causes multiple endocrine neoplasia type 2A (MEN2A) but not Hirschsprung disease (HSCR) in a family cosegregating both phenotypes, Hum Mutat, 22, 412, 10.1002/humu.10273

Frank-Raue, 2006, Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype, Eur J Endocrinol, 155, 229, 10.1530/eje.1.02216

Greene, 2002, Cancer staging mannua, 10.1007/978-1-4757-3656-4

Hansen, 2000, Is thyroidectomy necessary in RET mutations carriers of the familial medullary thyroid carcinoma syndrome?, Cancer, 89, 863, 10.1002/1097-0142(20000815)89:4<863::AID-CNCR19>3.0.CO;2-Z

Iihara, 1997, A nationwide clinical survey of patients with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma in Japan, Jpn J Clin Oncol, 27, 128, 10.1093/jjco/27.3.128

Kloos, 2009, Medullary thyroid cancer: management guidelines of the American Thyroid Association, Thyroid, 19, 565, 10.1089/thy.2008.0403

Machens, 2009, Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10, Endocr Relat Cancer, 16, 171, 10.1677/ERC-08-0096

Mian, 2009, Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation, Fam Cancer, 8, 379, 10.1007/s10689-009-9250-z

Milos, 2008, Age-related neoplastic risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germ line RET Cys634Trp (TGC>TGG) mutation, Endocr Relat Cancer, 15, 1035, 10.1677/ERC-08-0105

Modigliani, 1998, Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d'etude des tumeurs a calcitonine, Clin Endocrinol (Oxf), 48, 265, 10.1046/j.1365-2265.1998.00392.x

Moers, 1996, Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family, Am J Med, 101, 635, 10.1016/S0002-9343(96)00330-0

Neumann, 2002, Germ-line mutations in nonsyndromic pheochromocytoma, N Engl J Med, 346, 1459, 10.1056/NEJMoa020152

Neumann, 2004, Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations, JAMA, 292, 943, 10.1001/jama.292.8.943

Neumann, 2007, Evidence of MEN-2 in the original description of classic pheochromocytoma, N Engl J Med, 357, 1311, 10.1056/NEJMoa071407

Ponder, 1988a, Family screening in medullary thyroid carcinoma presenting without a family history, Q J Med, 67, 299

Ponder, 1988b, Risk estimation and screening in families of patients with medullary thyroid carcinoma, Lancet, 1, 397, 10.1016/S0140-6736(88)91191-9

Santoro, 1999, Molecular mechanisms of RET activation in human neoplasia, J Endocrinol Invest, 22, 811, 10.1007/BF03343650

Schiavi, 2005, Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene, JAMA, 294, 2057, 10.1001/jama.294.16.2057

Siggelkow, 2001, Presentation of a kindred with familial medullary thyroid carcinoma and Cys611Phe mutation of the RET proto-oncogene demonstrating low grade malignancy, Eur J Endocrinol, 144, 467, 10.1530/eje.0.1440467

Sobin, 2002, TNM classification of malignant tumours

Zbuk, 2007, Cancer phenomics: RET and PTEN as illustrative models, Nat Rev Cancer, 7, 35, 10.1038/nrc2037

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Human Mutation

Tập 32 Số 1

51-58

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