Mutations associated with succinate dehydrogenase D-related malignant paragangliomas

被引：36

作者：

Timmers, Henri J. L. M. ^{[1
,3
]}

Pacak, Karel ^{[1
]}

Bertherat, Jerome ^{[5
,6
,7
]}

Lenders, Jacques W. M. ^{[4
]}

Duet, Michele ^{[8
,9
]}

Eisenhofer, Graeme ^{[10
]}

Stratakis, Constantine A. ^{[2
]}

Niccoli-Sire, Patricia ^{[11
]}

Huy, Patrice Tran Ba ^{[12
]}

Burnichon, Nelly ^{[13
]}

Gimenez-Roqueplo, Anne-Paule ^{[13
,14
,15
,16
]}

机构：

[1] NICHHD, Reprod Biol & Adult Endocrinol Program, NIH, Bethesda, MD 20892 USA

[2] NICHHD, Sect Endocrinol & Genet, Dev Endocrinol Branch, NIH, Bethesda, MD 20892 USA

[3] Radboud Univ Nijmegen, Med Ctr, Dept Endocrinol, NL-6525 ED Nijmegen, Netherlands

[4] Radboud Univ Nijmegen, Med Ctr, Dept Internal Med, Div Gen Internal Med, NL-6525 ED Nijmegen, Netherlands

[5] INSERM, Unite 567, F-75010 Paris, France

[6] CNRS, UMR8140, Inst Cochin, F-75010 Paris, France

[7] Univ Paris 05, F-75010 Paris, France

[8] Hop Lariboisiere, AP HP, Dept Nucl Med, F-75010 Paris, France

[9] Univ Paris 07, F-75221 Paris 05, France

[10] Natl Inst Neurol Disorders & Stroke, Clin Neurocardiol Sect, NIH, Bethesda, MD USA

[11] CHU Timone, Serv Endocrinol, Marseille, France

[12] Hop Lariboisiere, AP HP, Dept Otorhinolaryngol, F-75010 Paris, France

[13] Hop Europeen Georges Pompidou, AP HP, Serv Genet, F-75015 Paris, France

[14] Univ Paris 05, Fac Med, F-75005 Paris, France

[15] INSERM, Unite 772, F-75005 Paris, France

[16] Coll France, F-75005 Paris, France

来源：

CLINICAL ENDOCRINOLOGY | 2008年 / 68卷 / 04期

关键词：

D O I：

10.1111/j.1365-2265.2007.03086.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Objective Hereditary paraganglioma (PGL) syndromes result from germline mutations in genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase (SDHB, SDHC and SDHD). SDHB-related PGLs are known in particular for their high malignant potential. Recently, however, malignant PGLs were also reported among a small minority of Dutch carriers of the SDHD founder mutation D92Y. The aim of the study was to investigate which SDHD mutations are associated with malignant PGL. Design Case histories; collaborative study between referral centres in France, the USA, and the Netherlands. Patients Six unrelated patients with metastatic PGLs of either sympathetic or parasympathetic origin. Measurements Assessment of SDHD mutations underlying malignant PGL. Results Germline SDHD mutations underlying metastatic PGL were G148D, Y114X, L85X, W43X, D92Y, and IVS2+5G -> A. Conclusion Our findings indicate that malignant SDHD-related PGL is associated with several mutations besides D92Y.

引用

页码：561 / 566

页数：6

共 22 条

[1] Genetic testing in pheochromocytoma or functional paraganglioma [J].

Amar, L ;

Bertherat, J ;

Baudin, E ;

Ajzenberg, C ;

Bressac-de Paillerets, B ;

Chabre, O ;

Chamontin, B ;

Delemer, B ;

Giraud, S ;

Murat, A ;

Niccoli-Sire, P ;

Richard, SP ;

Rohmer, V ;

Sadoul, JL ;

Strompf, L ;

Schlumberger, M ;

Bertagna, X ;

Plouin, PF ;

Jeunemaitre, X ;

Gimenez-Roqueplo, AP .

JOURNAL OF CLINICAL ONCOLOGY, 2005, 23 (34) :8812-8818

[2] Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect [J].

Astrom, K ;

Cohen, JE ;

Willett-Brozick, JE ;

Aston, CE ;

Baysal, BE .

HUMAN GENETICS, 2003, 113 (03) :228-237

[3] Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma [J].

Astuti, D ;

Latif, F ;

Dallol, A ;

Dahia, PLM ;

Douglas, F ;

George, E ;

Sköldberg, F ;

Husebye, ES ;

Eng, C ;

Maher, ER .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (01) :49-54

[4] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma [J].

Baysal, BE ;

Ferrell, RE ;

Willett-Brozick, JE ;

Lawrence, EC ;

Myssiorek, D ;

Bosch, A ;

van der Mey, A ;

Taschner, PEM ;

Rubinstein, WS ;

Myers, EN ;

Richard, CW ;

Cornelisse, CJ ;

Devilee, P ;

Devlin, B .

SCIENCE, 2000, 287 (5454) :848-851

[5] Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes [J].

Benn, DE ;

Gimenez-Roqueplo, AP ;

Reilly, JR ;

Bertherat, J ;

Burgess, J ;

Byth, K ;

Croxson, M ;

Dahia, PLM ;

Elston, M ;

Gimm, O ;

Henley, D ;

Herman, P ;

Murday, V ;

Niccoli-Sire, P ;

Pasieka, JL ;

Rohmer, V ;

Tucker, K ;

Jeunemaitre, X ;

Marsh, DJ ;

Plouin, PF ;

Robinson, BG .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2006, 91 (03) :827-836

[6] Malignant hereditary paraganglioma: problems raised by non-functional forms management [J].

Bonnet, S. ;

Durand, X. ;

Baton, O. ;

Gimenez-Roqueplo, A. -P. ;

Baudin, E. ;

Visset, J. ;

Algayres, J. -P. ;

Baranger, B. .

ANNALES DE CHIRURGIE, 2006, 131 (10) :626-630

[7] Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad [J].

Carney, JA ;

Stratakis, CA .

AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (02) :132-139

[8] Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma [J].

Cascon, A ;

Ruiz-Llorente, S ;

Cebrian, A ;

Telleria, D ;

Rivero, JC ;

Diez, JJ ;

Lopez-Ibarra, PJ ;

Jaunsolo, MA ;

Benitez, J ;

Robledo, M .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2002, 10 (08) :457-461

[9]

DeLellis RA, 2004, PATHOLOGY GENETICS W

[10] Bone metastases from head and neck paragangliomas: Uncommon MR findings in an uncommon condition - Report of three cases [J].

Duet, Michele ;

Herman, Philippe ;

Wassef, Michel ;

Huy, Patrice Tran Ba ;

Laredo, Jean-Denis .

JOURNAL OF MAGNETIC RESONANCE IMAGING, 2006, 24 (02) :428-433

← 1 2 3 →