-
2
-
-
78649909155
-
Erratum
-
Erratum in: Endocr Regul 2001, 35:94.
-
(2001)
Endocr Regul
, vol.35
, pp. 94
-
-
-
3
-
-
0042913365
-
Pheochromocytoma: The expanding genetic differential diagnosis
-
1:CAS:528:DC%2BD3sXntlWqsLc%3D 10.1093/jnci/djg024 12928344
-
J Bryant J Farmer LJ Kessler, et al. 2003 Pheochromocytoma: the expanding genetic differential diagnosis J Natl Cancer Inst 95 1196 1204 1:CAS:528:DC%2BD3sXntlWqsLc%3D 10.1093/jnci/djg024 12928344
-
(2003)
J Natl Cancer Inst
, vol.95
, pp. 1196-1204
-
-
Bryant, J.1
Farmer, J.2
Kessler, L.J.3
-
4
-
-
33748484479
-
Genetic basis of phaeochromocytoma and paraganglioma
-
DOI 10.1016/j.beem.2006.07.005, PII S1521690X06000510
-
DE Benn BG Robinson 2006 Genetic basis of phaeochromocytoma and paraganglioma Best Pract Res Clin Endocrinol Metab 20 435 450 1:CAS:528:DC%2BD28Xps1CntLk%3D 10.1016/j.beem.2006.07.005 16980204 (Pubitemid 44356452)
-
(2006)
Best Practice and Research: Clinical Endocrinology and Metabolism
, vol.20
, Issue.3
, pp. 435-450
-
-
Benn, D.E.1
Robinson, B.G.2
-
5
-
-
77958164441
-
SDHA is a tumor suppressor gene causing paraganglioma
-
1:CAS:528:DC%2BC3cXhtVahsLbM 10.1093/hmg/ddq206 20484225 These authors identified a heterozygous germline SDHA mutation, p.Arg589Trp, in a woman suffering from catecholamine-secreting abdominal PGL. They also investigated 202 PHEOs and PGLs for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC, and SDHD loci. LOH was detected at the SDHA locus in the patient's tumor but was present in only 4.5% of a large series of PHEOs and PGLs
-
N Burnichon JJ Brière R Libé, et al. 2010 SDHA is a tumor suppressor gene causing paraganglioma Hum Mol Genet 19 3011 3020 1:CAS:528:DC%2BC3cXhtVahsLbM 10.1093/hmg/ddq206 20484225 These authors identified a heterozygous germline SDHA mutation, p.Arg589Trp, in a woman suffering from catecholamine-secreting abdominal PGL. They also investigated 202 PHEOs and PGLs for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC, and SDHD loci. LOH was detected at the SDHA locus in the patient's tumor but was present in only 4.5% of a large series of PHEOs and PGLs
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3011-3020
-
-
Burnichon, N.1
Brière, J.J.2
Libé, R.3
-
6
-
-
69549088424
-
SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
-
1:CAS:528:DC%2BD1MXhtVersr%2FF 10.1126/science.1175689 19628817 These authors investigated a mitochondrial protein named SDH5, which interacts with the catalytic subunit of the SDH complex. SDH5 is required for SDH-dependent respiration and for SDHA flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene, located on chromosome 11q13.1, segregate with disease in a family with hereditary PGLs
-
HX Hao O Khalimonchuk M Schraders, et al. 2009 SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma Science 325 1139 1142 1:CAS:528:DC%2BD1MXhtVersr%2FF 10.1126/science.1175689 19628817 These authors investigated a mitochondrial protein named SDH5, which interacts with the catalytic subunit of the SDH complex. SDH5 is required for SDH-dependent respiration and for SDHA flavination (incorporation of the flavin adenine dinucleotide cofactor). Germline loss-of-function mutations in the human SDH5 gene, located on chromosome 11q13.1, segregate with disease in a family with hereditary PGLs
-
(2009)
Science
, vol.325
, pp. 1139-1142
-
-
Hao, H.X.1
Khalimonchuk, O.2
Schraders, M.3
-
7
-
-
77950342008
-
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
-
1:CAS:528:DC%2BC3cXjvF2nu7s%3D 10.1016/S1470-2045(10)70007-3 20071235 These authors identified a pathogenic germline DNA mutation of SDHAF2, 232G - ∈>∈A (Gly78Arg) in a family with head and neck PGLs with a young age of onset
-
JP Bayley HP Kunst A Cascon, et al. 2010 SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma Lancet Oncol 11 366 372 1:CAS:528:DC%2BC3cXjvF2nu7s%3D 10.1016/S1470-2045(10)70007-3 20071235 These authors identified a pathogenic germline DNA mutation of SDHAF2, 232G - ∈>∈A (Gly78Arg) in a family with head and neck PGLs with a young age of onset
-
(2010)
Lancet Oncol
, vol.11
, pp. 366-372
-
-
Bayley, J.P.1
Kunst, H.P.2
Cascon, A.3
-
8
-
-
77649175595
-
Germline mutations in TMEM127 confer susceptibility to pheochromocytoma
-
1:CAS:528:DC%2BC3cXhvFGmsr4%3D 10.1038/ng.533 20154675 These authors identified the transmembrane-encoding gene, TMEM127 on chromosome 2q11, as a new PHEO susceptibility gene. In a cohort of 103 samples, they detected truncating germline TMEM127 mutations in approximately 30% of familial tumors and about 3% of sporadic-appearing PHEOs
-
Y Qin L Yao EE King, et al. 2010 Germline mutations in TMEM127 confer susceptibility to pheochromocytoma Nat Genet 42 229 233 1:CAS:528: DC%2BC3cXhvFGmsr4%3D 10.1038/ng.533 20154675 These authors identified the transmembrane-encoding gene, TMEM127 on chromosome 2q11, as a new PHEO susceptibility gene. In a cohort of 103 samples, they detected truncating germline TMEM127 mutations in approximately 30% of familial tumors and about 3% of sporadic-appearing PHEOs
-
(2010)
Nat Genet
, vol.42
, pp. 229-233
-
-
Qin, Y.1
Yao, L.2
King, E.E.3
-
9
-
-
0037046659
-
Germ-line mutations in nonsyndromic pheochromocytoma
-
DOI 10.1056/NEJMoa020152
-
HP Neumann B Bausch SR McWhinney, et al. 2002 Germ-line mutations in nonsyndromic pheochromocytoma N Engl J Med 346 1459 1466 1:CAS:528: DC%2BD38XjsVynsLc%3D 10.1056/NEJMoa020152 12000816 (Pubitemid 34755714)
-
(2002)
New England Journal of Medicine
, vol.346
, Issue.19
, pp. 1459-1466
-
-
Neumann, H.P.H.1
Bausch, B.2
McWhinney, S.R.3
Bender, B.U.4
Gimm, O.5
Franke, G.6
Schipper, J.7
Klisch, J.8
Altehoefer, C.9
Zerres, K.10
Januszewicz, A.11
Smith, W.M.12
Munk, R.13
Manz, T.14
Glaesker, S.15
Apel, T.W.16
Treier, M.17
Reineke, M.18
Walz, M.K.19
Hoang-Vu, C.20
Brauckhoff, M.21
Klein-Franke, A.22
Klose, P.23
Schmidt, H.24
Maier-Woelfle, M.25
Peczkowska, M.26
Szmigielski, C.27
Eng, C.28
more..
-
10
-
-
66149098136
-
Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas
-
1:CAS:528:DC%2BD1MXlvVCqtr0%3D 10.1210/jc.2008-2419 19223516 These authors examined 501 consecutive patients with PHEOs or PGLs (secreting or nonsecreting). Germline mutations were detected in 32.1% of cases, but frequencies varied widely depending on the classification criteria, ranging from 100% in patients with associated syndromic lesions to 11.6% in patients with a single tumor and a negative family history
-
M Mannelli M Castellano F Schiavi, et al. 2009 Clinically guided genetic screening in a large cohort of Italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas J Clin Endocrinol Metab 94 1541 1547 1:CAS:528:DC%2BD1MXlvVCqtr0%3D 10.1210/jc.2008-2419 19223516 These authors examined 501 consecutive patients with PHEOs or PGLs (secreting or nonsecreting). Germline mutations were detected in 32.1% of cases, but frequencies varied widely depending on the classification criteria, ranging from 100% in patients with associated syndromic lesions to 11.6% in patients with a single tumor and a negative family history
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1541-1547
-
-
Mannelli, M.1
Castellano, M.2
Schiavi, F.3
-
11
-
-
33644834491
-
Genetic testing in pheochromocytoma or functional paraganglioma
-
DOI 10.1200/JCO.2005.03.1484
-
L Amar J Bertherat E Baudin, et al. 2005 Genetic testing in pheochromocytoma or functional paraganglioma J Clin Oncol 23 8812 8818 1:CAS:528:DC%2BD28XisFc%3D 10.1200/JCO.2005.03.1484 16314641 (Pubitemid 46211527)
-
(2005)
Journal of Clinical Oncology
, vol.23
, Issue.34
, pp. 8812-8818
-
-
Amar, L.1
Bertherat, J.2
Baudin, E.3
Ajzenberg, C.4
Bressac-De Paillerets, B.5
Chabre, O.6
Chamontin, B.7
Delemer, B.8
Giraud, S.9
Murat, A.10
Niccoli-Sire, P.11
Richard, S.12
Rohmer, V.13
Sadoul, J.-L.14
Strompf, L.15
Schlumberger, M.16
Bertagna, X.17
Plouin, P.-F.18
Jeunemaitre, X.19
Gimenez-Roqueplo, A.-P.20
more..
-
12
-
-
68549092478
-
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
-
1:CAS:528:DC%2BD1MXpvFGnt70%3D 10.1210/jc.2008-2504 19454582 These authors examined 445 patients with head-and-neck and/or thoracic-abdominal or pelvic PGLs. A head-and-neck PGL was present in 97.7% of carriers of an SDHD mutation and 87.5% of SDHC mutation carriers, but in only 42.7% of SDHB carriers; on the other hand, a thoracic-abdominal or pelvic location was present in 63.5% of carriers of an SDHB mutation, 16.1% of SDHD mutation carriers, and 12.5% of those with an SDHC mutation. A malignant PGL was documented in 37.5% of the SDHB
-
N Burnichon V Rohmer L Amar, et al. 2009 The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas J Clin Endocrinol Metab 94 2817 2827 1:CAS:528:DC%2BD1MXpvFGnt70%3D 10.1210/jc.2008-2504 19454582 These authors examined 445 patients with head-and-neck and/or thoracic-abdominal or pelvic PGLs. A head-and-neck PGL was present in 97.7% of carriers of an SDHD mutation and 87.5% of SDHC mutation carriers, but in only 42.7% of SDHB carriers; on the other hand, a thoracic-abdominal or pelvic location was present in 63.5% of carriers of an SDHB mutation, 16.1% of SDHD mutation carriers, and 12.5% of those with an SDHC mutation. A malignant PGL was documented in 37.5% of the SDHB
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 2817-2827
-
-
Burnichon, N.1
Rohmer, V.2
Amar, L.3
-
13
-
-
33947530604
-
Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas
-
DOI 10.1210/jc.2006-2315
-
HJ Timmers A Kozupa G Eisenhofer, et al. 2007 Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas J Clin Endocrinol Metab 92 779 786 1:CAS:528:DC%2BD2sXjtlGntb4%3D 10.1210/jc.2006-2315 17200167 This study included 29 patients with SDHB-related abdominal or thoracic PGLs. The mean age at diagnosis was 33. 7∈±∈15.7 years. Tumor-related pain was among the presenting symptoms in 54% of patients. Hypertension was present in 76%, and 90% lacked a family history of PGL. All primary tumors but one originated from extra-adrenal locations. The mean tumor size (± SD) was 7.8∈±∈3.7 cm. Twenty-eight percent of patients (Pubitemid 46465640)
-
(2007)
Journal of Clinical Endocrinology and Metabolism
, vol.92
, Issue.3
, pp. 779-786
-
-
Timmers, H.J.L.M.1
Kozupa, A.2
Eisenhofer, G.3
Raygada, M.4
Adams, K.T.5
Solis, D.6
Lenders, J.W.M.7
Pacak, K.8
-
14
-
-
35348989206
-
Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
-
This study included 54 patients with malignant PHEOs/PGLs. Germline mutations were identified in SDHB genes (n∈=∈23, including 21 patients with apparent sporadic tumors) and VHL genes (n∈=∈1); two patients had NF1. Patients with SDHB mutations were younger, more frequently had extra-adrenal tumors, and had a shorter metanephrine excretion doubling time. The presence of SDHB mutations was significantly and independently associated with mortality
-
L Amar E Baudin N Burnichon, et al. 2007 Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas J Clin Endocrinol Metab 10 3822 3828 This study included 54 patients with malignant PHEOs/PGLs. Germline mutations were identified in SDHB genes (n∈=∈23, including 21 patients with apparent sporadic tumors) and VHL genes (n∈=∈1); two patients had NF1. Patients with SDHB mutations were younger, more frequently had extra-adrenal tumors, and had a shorter metanephrine excretion doubling time. The presence of SDHB mutations was significantly and independently associated with mortality
-
(2007)
J Clin Endocrinol Metab
, vol.10
, pp. 3822-3828
-
-
Amar, L.1
Baudin, E.2
Burnichon, N.3
-
15
-
-
40949109793
-
Multiple endocrine neoplasia type 2: 2007 update
-
10.1159/000110589 18174721
-
F Raue K Frank-Raue 2007 Multiple endocrine neoplasia type 2: 2007 update Horm Res 68 Suppl 5 101 104 10.1159/000110589 18174721
-
(2007)
Horm Res
, vol.68
, Issue.SUPPL. 5
, pp. 101-104
-
-
Raue, F.1
Frank-Raue, K.2
-
16
-
-
69149093162
-
Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome
-
K Pacak G Eisenhofer I Ilias 2009 Diagnosis of pheochromocytoma with special emphasis on MEN2 syndrome Hormones (Athens) 8 111 116
-
(2009)
Hormones (Athens)
, vol.8
, pp. 111-116
-
-
Pacak, K.1
Eisenhofer, G.2
Ilias, I.3
-
17
-
-
0028881998
-
Genotype-phenotype correlation in multiple endocrine neoplasia type 2: Report of the International RET Mutation Consortium
-
1:STN:280:DyaK28%2FmvFKmsg%3D%3D 10.1111/j.1365-2796.1995.tb01208.x 7595170
-
LM Mulligan DJ Marsh BG Robinson, et al. 1995 Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium J Intern Med 238 343 346 1:STN:280: DyaK28%2FmvFKmsg%3D%3D 10.1111/j.1365-2796.1995.tb01208.x 7595170
-
(1995)
J Intern Med
, vol.238
, pp. 343-346
-
-
Mulligan, L.M.1
Marsh, D.J.2
Robinson, B.G.3
-
18
-
-
23844520735
-
Phaeochromocytoma
-
DOI 10.1016/S0140-6736(05)67139-5, PII S0140673605671395
-
JW Lenders G Eisenhofer M Mannelli K Pacak 2005 Phaeochromocytoma Lancet 366 665 675 10.1016/S0140-6736(05)67139-5 16112304 (Pubitemid 41176020)
-
(2005)
Lancet
, vol.366
, Issue.9486
, pp. 665-675
-
-
Lenders, J.W.M.1
Eisenhofer, G.2
Mannelli, M.3
Pacak, K.4
-
19
-
-
17744374251
-
Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes
-
DOI 10.1210/jc.86.5.1999
-
G Eisenhofer MM Walther TT Huynh, et al. 2001 Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes J Clin Endocrinol Metab 86 1999 2008 1:CAS:528:DC%2BD3MXjs1Omsbs%3D 10.1210/jc.86.5.1999 11344198 (Pubitemid 32472911)
-
(2001)
Journal of Clinical Endocrinology and Metabolism
, vol.86
, Issue.5
, pp. 1999-2008
-
-
Eisenhofer, G.1
Walther, M.M.2
Huynh, T.-T.3
Li, S.-T.4
Bornstein, S.R.5
Vortmeyer, A.6
Mannelli, M.7
Goldstein, D.S.8
Linehan, W.M.9
Lenders, J.W.M.10
Pacak, K.11
-
20
-
-
0025000210
-
Clinical features and natural history of von Hippel-Lindau disease
-
1:STN:280:DyaK3M7htVyksQ%3D%3D 2274658
-
ER Maher JR Yates R Harries, et al. 1990 Clinical features and natural history of von Hippel-Lindau disease Q J Med 77 1151 1163 1:STN:280: DyaK3M7htVyksQ%3D%3D 2274658
-
(1990)
Q J Med
, vol.77
, pp. 1151-1163
-
-
Maher, E.R.1
Yates, J.R.2
Harries, R.3
-
21
-
-
14644415508
-
Pheochromocytoma and functional paraganglioma syndrome: No longer the 10% tumor
-
DOI 10.1002/jso.20177
-
EE Elder G Elder C Larsson 2005 Pheochromocytoma and functional paraganglioma syndrome: no longer the 10% tumor J Surg Oncol 89 193 201 10.1002/jso.20177 15719371 (Pubitemid 40315916)
-
(2005)
Journal of Surgical Oncology
, vol.89
, Issue.3
, pp. 193-201
-
-
Elder, E.E.1
Elder, G.2
Larsson, C.3
-
22
-
-
72249089978
-
Phaeochromocytomas and sympathetic paragangliomas
-
10.1002/bjs.6821 19918850
-
BJ Petri CH van Eijck WW de Herder, et al. 2009 Phaeochromocytomas and sympathetic paragangliomas Br J Surg 96 1381 1392 10.1002/bjs.6821 19918850
-
(2009)
Br J Surg
, vol.96
, pp. 1381-1392
-
-
Petri, B.J.1
Van Eijck, C.H.2
De Herder, W.W.3
-
23
-
-
0033587146
-
The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis
-
DOI 10.1038/20459
-
PH Maxwell MS Wiesener GW Chang, et al. 1999 The tumour suppressor protein VHL targets hypoxia-inducible factors for oxygen-dependent proteolysis Nature 399 271 275 1:CAS:528:DyaK1MXjsFyqt74%3D 10.1038/20459 10353251 (Pubitemid 29246458)
-
(1999)
Nature
, vol.399
, Issue.6733
, pp. 271-275
-
-
Maxwell, P.H.1
Wlesener, M.S.2
Chang, G.-W.3
Clifford, S.C.4
Vaux, E.C.5
Cockman, M.E.6
Wykoff, C.C.7
Pugh, C.W.8
Maher, E.R.9
Ratcliffe, P.J.10
-
24
-
-
0037340392
-
Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease
-
DOI 10.1210/jc.2002-021466
-
FJ Hes JW Höppener CJ Lips 2003 Clinical review 155: Pheochromocytoma in Von Hippel-Lindau disease J Clin Endocrinol Metab 88 969 974 1:CAS:528:DC%2BD3sXit1egtLY%3D 10.1210/jc.2002-021466 12629069 (Pubitemid 36337740)
-
(2003)
Journal of Clinical Endocrinology and Metabolism
, vol.88
, Issue.3
, pp. 969-974
-
-
Hes, F.J.1
Hoppener, J.W.M.2
Lips, C.J.M.3
-
25
-
-
67650492401
-
Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours
-
1:CAS:528:DC%2BD1MXptlOhtbk%3D 10.1677/ERC-08-0239 19208735 This study assessed 31 patients with chromaffin tumors; 16 had SDHB gene mutations and 15 had a diagnosis of VHL. VHL-related tumors were predominantly adrenal PHEOs (84.6%), whereas SDHB-related tumors were predominantly extra-adrenal PGLs (76%). Multifocal disease (bilateral PHEOs) was present in 60% of the VHL cohort but only 19% of the SDHB cohort, whereas metastatic disease was found in 31% of the SDHB cohort but was not found in the VHL cohort
-
U Srirangalingam B Khoo L Walker, et al. 2009 Contrasting clinical manifestations of SDHB and VHL associated chromaffin tumours Endocr Relat Cancer 16 515 525 1:CAS:528:DC%2BD1MXptlOhtbk%3D 10.1677/ERC-08-0239 19208735 This study assessed 31 patients with chromaffin tumors; 16 had SDHB gene mutations and 15 had a diagnosis of VHL. VHL-related tumors were predominantly adrenal PHEOs (84.6%), whereas SDHB-related tumors were predominantly extra-adrenal PGLs (76%). Multifocal disease (bilateral PHEOs) was present in 60% of the VHL cohort but only 19% of the SDHB cohort, whereas metastatic disease was found in 31% of the SDHB cohort but was not found in the VHL cohort
-
(2009)
Endocr Relat Cancer
, vol.16
, pp. 515-525
-
-
Srirangalingam, U.1
Khoo, B.2
Walker, L.3
-
26
-
-
66749179952
-
Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2
-
1:CAS:528:DC%2BD1MXntFGmsbg%3D 10.1210/jc.2009-0354 19336503 From a total of 809 head and neck PGLs, 12 patients were found to have hereditary non-SDHx head-and-neck PGLs: 11 in the setting of germline VHL mutations and one with a RET mutation
-
CC Boedeker Z Erlic S Richard, et al. 2009 Head and neck paragangliomas in von Hippel-Lindau disease and multiple endocrine neoplasia type 2 J Clin Endocrinol Metab 94 1938 1944 1:CAS:528:DC%2BD1MXntFGmsbg%3D 10.1210/jc.2009-0354 19336503 From a total of 809 head and neck PGLs, 12 patients were found to have hereditary non-SDHx head-and-neck PGLs: 11 in the setting of germline VHL mutations and one with a RET mutation
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1938-1944
-
-
Boedeker, C.C.1
Erlic, Z.2
Richard, S.3
-
27
-
-
0032825694
-
Von Recklinghausen's disease and pheochromocytomas
-
DOI 10.1016/S0022-5347(05)68171-2
-
MM Walther J Herring E Enquist, et al. 1999 von Recklinghausen's disease and pheochromocytomas J Urol 162 1582 1586 1:STN:280:DyaK1Mvlt1GjsQ%3D%3D 10.1016/S0022-5347(05)68171-2 10524872 (Pubitemid 29474665)
-
(1999)
Journal of Urology
, vol.162
, Issue.5
, pp. 1582-1586
-
-
Walther, M.M.1
Herring, J.2
Enquist, E.3
Keiser, H.R.4
Linehan, W.M.5
-
28
-
-
0030960182
-
Malignant and benign tumors in patients with neurofibromatosis type I in a defined Swedish population
-
DOI 10.1002/(SICI)1097-0142(19970601)79:11<2125::AID-CNCR9>3.0. CO;2-N
-
ME Zöller B Rembeck A Odén, et al. 1997 Malignant and benign tumors in patients with neurofibromatosis type 1 in a defined Swedish population Cancer 79 2125 2131 10.1002/(SICI)1097-0142(19970601)79:11<2125::AID- CNCR9>3.0.CO;2-N 9179058 (Pubitemid 27227376)
-
(1997)
Cancer
, vol.79
, Issue.11
, pp. 2125-2131
-
-
Zoller, M.E.T.1
Rembeck, B.2
Oden, A.3
Samuelsson, M.4
Angervall, L.5
-
29
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
1:STN:280:DyaK2szltV2lsQ%3D%3D 10.1001/jama.278.1.51 9207339
-
DH Gutmann A Aylsworth JC Carey, et al. 1997 The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2 JAMA 278 51 57 1:STN:280:DyaK2szltV2lsQ%3D%3D 10.1001/jama.278.1.51 9207339
-
(1997)
JAMA
, vol.278
, pp. 51-57
-
-
Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
-
30
-
-
33745275854
-
European-American Pheochromocytoma Study Group: Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma
-
1:CAS:528:DC%2BD28XmtFSgt74%3D 10.1056/NEJMc066006 16790714
-
B Bausch W Borozdin HP Neumann 2006 European-American Pheochromocytoma Study Group: Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma N Engl J Med 354 2729 2731 1:CAS:528:DC%2BD28XmtFSgt74%3D 10.1056/NEJMc066006 16790714
-
(2006)
N Engl J Med
, vol.354
, pp. 2729-2731
-
-
Bausch, B.1
Borozdin, W.2
Neumann, H.P.3
-
31
-
-
0034964421
-
Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma
-
Astuti D, Latif F, Dallol A, et al.: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet 2001, 69:49-54.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 49-54
-
-
Astuti, D.1
Latif, F.2
Dallol, A.3
-
32
-
-
85031464615
-
Erratum
-
Erratum in Am J Hum Genet 2002, 70:565.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 565
-
-
-
33
-
-
0033767445
-
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
-
1:CAS:528:DC%2BD3cXotVWhsL4%3D 10.1038/81551 11062460
-
S Niemann U Müller 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3 Nat Genet 26 268 270 1:CAS:528:DC%2BD3cXotVWhsL4%3D 10.1038/81551 11062460
-
(2000)
Nat Genet
, vol.26
, pp. 268-270
-
-
Niemann, S.1
Müller, U.2
-
34
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
DOI 10.1126/science.287.5454.848
-
BE Baysal RE Ferrell JE Willett-Brozick, et al. 2000 Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma Science 287 848 851 1:CAS:528:DC%2BD3cXhtVehtrs%3D 10.1126/science.287.5454.848 10657297 (Pubitemid 30084326)
-
(2000)
Science
, vol.287
, Issue.5454
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
Lawrence, E.C.4
Myssiorek, D.5
Bosch, A.6
Van Der Mey, A.7
Taschner, P.E.M.8
Rubinstein, W.S.9
Myers, E.N.10
Richard III, C.W.11
Cornelisse, C.J.12
Devilee, P.13
Devlin, B.14
-
35
-
-
67650501167
-
Clinical aspects of SDHx-related pheochromocytoma and paraganglioma
-
1:CAS:528:DC%2BD1MXptlOht70%3D 10.1677/ERC-08-0284 19190077
-
HJ Timmers AP Gimenez-Roqueplo M Mannelli K Pacak 2009 Clinical aspects of SDHx-related pheochromocytoma and paraganglioma Endocr Relat Cancer 16 391 400 1:CAS:528:DC%2BD1MXptlOht70%3D 10.1677/ERC-08-0284 19190077
-
(2009)
Endocr Relat Cancer
, vol.16
, pp. 391-400
-
-
Timmers, H.J.1
Gimenez-Roqueplo, A.P.2
Mannelli, M.3
Pacak, K.4
-
36
-
-
66249108601
-
Understanding the Warburg effect: The metabolic requirements of cell proliferation
-
Vander Heiden MG, Cantley LC, Thompson CB: Understanding the Warburg effect: the metabolic requirements of cell proliferation. Science 2009, 324:1029-1033.
-
(2009)
Science
, vol.324
, pp. 1029-1033
-
-
Vander Heiden, M.G.1
Cantley, L.C.2
Thompson, C.B.3
-
37
-
-
2942561954
-
Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families
-
DOI 10.1038/sj.onc.1207591
-
EF Hensen ES Jordanova IJ van Minderhout, et al. 2004 Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families Oncogene 23 4076 4083 1:CAS:528:DC%2BD2cXktVyju7k%3D 10.1038/sj.onc.1207591 15064708 (Pubitemid 38747938)
-
(2004)
Oncogene
, vol.23
, Issue.23
, pp. 4076-4083
-
-
Hensen, E.F.1
Jordanova, E.S.2
Van Minderhout, I.J.H.M.3
Hogendoorn, P.C.W.4
Taschner, P.E.M.5
Van Der Mey, A.G.L.6
Devilee, P.7
Cornelisse, C.J.8
-
38
-
-
33747638645
-
Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes?
-
DOI 10.1210/jc.2005-2178
-
C Jiménez G Cote A Arnold RF Gagel 2006 Review: Should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? J Clin Endocrinol Metab 91 2851 2858 10.1210/jc.2005-2178 16735498 (Pubitemid 44271723)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.8
, pp. 2851-2858
-
-
Jimenez, C.1
Cote, G.2
Arnold, A.3
Gagel, R.F.4
-
39
-
-
38549134313
-
Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation
-
DOI 10.1038/ncpendmet0726, PII NCPENDMET0726
-
M Peczkowska A Cascon A Prejbisz, et al. 2008 Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation Nat Clin Pract Endocrinol Metab 4 111 115 1:CAS:528:DC%2BD1cXovFOisw%3D%3D 10.1038/ ncpendmet0726 18212813 The family presented had adrenal pheochromocytoma and carotid body tumor as parts of a familial PHEO-PGL syndrome associated with a germline mutation in the SDHC gene (Pubitemid 351156901)
-
(2008)
Nature Clinical Practice Endocrinology and Metabolism
, vol.4
, Issue.2
, pp. 111-115
-
-
Peczkowska, M.1
Cascon, A.2
Prejbisz, A.3
Kubaszek, A.4
Cwikla, J.5
Furmanek, M.6
Erlic, Z.7
Eng, C.8
Januszewicz, A.9
Neumann, H.P.H.10
-
40
-
-
51749113159
-
Germline SDHB mutations and familial renal cell carcinoma
-
1:CAS:528:DC%2BD1cXhtFWit7%2FK 10.1093/jnci/djn254 18728283 These authors investigated whether germline mutations in SDH subunit genes (SDHB, SDHC, SDHD) were associated with renal cell carcinoma (RCC) susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome. No mutations in SDHC or SDHD were identified in probands, but 3 (4.4%) of the 68 probands had a germline SDHB mutation
-
C Ricketts ER Woodward P Killick, et al. 2008 Germline SDHB mutations and familial renal cell carcinoma J Natl Cancer Inst 100 1260 1262 1:CAS:528:DC%2BD1cXhtFWit7%2FK 10.1093/jnci/djn254 18728283 These authors investigated whether germline mutations in SDH subunit genes (SDHB, SDHC, SDHD) were associated with renal cell carcinoma (RCC) susceptibility in 68 patients with no clinical evidence of an RCC susceptibility syndrome. No mutations in SDHC or SDHD were identified in probands, but 3 (4.4%) of the 68 probands had a germline SDHB mutation
-
(2008)
J Natl Cancer Inst
, vol.100
, pp. 1260-1262
-
-
Ricketts, C.1
Woodward, E.R.2
Killick, P.3
-
41
-
-
37349074531
-
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD
-
DOI 10.1038/sj.ejhg.5201904, PII 5201904
-
B Pasini SR McWhinney T Bei, et al. 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD Eur J Hum Genet 16 79 88 1:CAS:528:DC%2BD2sXhsVaisrvF 10.1038/sj.ejhg.5201904 17667967 These authors investigated 11 patients with the dyad of PGL and gastric stromal sarcoma; in 8, the GISTs were caused by germline mutations of SDHB, SDHC, or SDHD genes (Pubitemid 350284184)
-
(2008)
European Journal of Human Genetics
, vol.16
, Issue.1
, pp. 79-88
-
-
Pasini, B.1
McWhinney, S.R.2
Bei, T.3
Matyakhina, L.4
Stergiopoulos, S.5
Muchow, M.6
Boikos, S.A.7
Ferrando, B.8
Pacak, K.9
Assie, G.10
Baudin, E.11
Chompret, A.12
Ellison, J.W.13
Briere, J.-J.14
Rustin, P.15
Gimenez-Roqueplo, A.-P.16
Eng, C.17
Carney, J.A.18
Stratakis, C.A.19
-
42
-
-
71649113569
-
Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization
-
1:CAS:528:DC%2BD1MXhsFykurzI 10.1016/j.cancergencyto.2009.09.005 20082856
-
J Lee J Wang M Torbenson, et al. 2010 Loss of SDHB and NF1 genes in a malignant phyllodes tumor of the breast as detected by oligo-array comparative genomic hybridization Cancer Genet Cytogenet 196 179 183 1:CAS:528: DC%2BD1MXhsFykurzI 10.1016/j.cancergencyto.2009.09.005 20082856
-
(2010)
Cancer Genet Cytogenet
, vol.196
, pp. 179-183
-
-
Lee, J.1
Wang, J.2
Torbenson, M.3
-
43
-
-
4143105824
-
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
-
Neumann HP, Pawlu C, Peczkowska M, et al.: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 2004, 292:943-951.
-
(2004)
JAMA
, vol.292
, pp. 943-951
-
-
Neumann, H.P.1
Pawlu, C.2
Peczkowska, M.3
-
44
-
-
85136423573
-
Erratum
-
Erratum in: JAMA 2004, 292:1686.
-
(2004)
JAMA
, vol.292
, pp. 1686
-
-
-
45
-
-
33751528825
-
High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: Implications for genetic testing
-
DOI 10.1210/jc.2006-0423
-
FM Brouwers G Eisenhofer JJ Tao, et al. 2006 High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing J Clin Endocrinol Metab 91 4505 4509 1:CAS:528:DC%2BD28Xht1WhurjN 10.1210/jc.2006-0423 16912137 (Pubitemid 44833431)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.11
, pp. 4505-4509
-
-
Brouwers, F.M.1
Eisenhofer, G.2
Tao, J.J.3
Kant, J.A.4
Adams, K.T.5
Linehan, W.M.6
Pacak, K.7
-
46
-
-
33644822473
-
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
-
DOI 10.1210/jc.2005-1862
-
DE Benn AP Gimenez-Roqueplo JR Reilly, et al. 2006 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes J Clin Endocrinol Metab 91 827 836 1:CAS:528:DC%2BD28Xis1Cmtrg%3D 10.1210/jc.2005-1862 16317055 (Pubitemid 43357746)
-
(2006)
Journal of Clinical Endocrinology and Metabolism
, vol.91
, Issue.3
, pp. 827-836
-
-
Benn, D.E.1
Gimenez-Roqueplo, A.-P.2
Reilly, J.R.3
Bertherat, J.4
Burgess, J.5
Byth, K.6
Croxson, M.7
Dahia, P.L.M.8
Elston, M.9
Gimm, O.10
Henley, D.11
Herman, P.12
Murday, V.13
Niccoli-Sire, P.14
Pasieka, J.L.15
Rohmer, V.16
Tucker, K.17
Jeunemaitre, X.18
Marsh, D.J.19
Plouin, P.-F.20
Robinson, B.G.21
more..
-
47
-
-
74049144943
-
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD
-
1:CAS:528:DC%2BC3cXhtFKmt7o%3D 10.1002/humu.21136 19802898 Authors assessed 358 patients with SDHB (n∈=∈295) and SDHD (n∈=∈63) mutations. At age 60 years, the risk of head and neck PGL in SDHB mutation carriers was 29% and the risk of PHEO was 52%; in SDHD mutation carriers, the risks were and 71% and 29%, respectively. Risks of malignant PHEO and renal tumors (14% at age 70 years) were higher in SDHB mutation carriers. No clear genotype-phenotype correlations were detected for SDHB mutations
-
CJ Ricketts JR Forman E Rattenberry, et al. 2010 Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD Hum Mutat 31 41 51 1:CAS:528:DC%2BC3cXhtFKmt7o%3D 10.1002/humu.21136 19802898 Authors assessed 358 patients with SDHB (n∈=∈295) and SDHD (n∈=∈63) mutations. At age 60 years, the risk of head and neck PGL in SDHB mutation carriers was 29% and the risk of PHEO was 52%; in SDHD mutation carriers, the risks were and 71% and 29%, respectively. Risks of malignant PHEO and renal tumors (14% at age 70 years) were higher in SDHB mutation carriers. No clear genotype-phenotype correlations were detected for SDHB mutations
-
(2010)
Hum Mutat
, vol.31
, pp. 41-51
-
-
Ricketts, C.J.1
Forman, J.R.2
Rattenberry, E.3
-
48
-
-
77951974895
-
Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes
-
1:CAS:528:DC%2BC3cXmtFWlu7k%3D 10.1016/j.humpath.2009.12.005 20236688 These authors defined positive, weak diffuse, and negative immunohistochemistry staining for SDHB. All 12 SDH mutated tumors (6 SDHB, 5 SDHD, and 1 SDHC) showed weak diffuse or negative staining, whereas 9 of 10 tumors with known mutations of VHL, RET, or NF1 showed positive staining. One VHL-associated tumor showed weak diffuse staining; one PGL with no known SDH mutation but clinical features suggesting familial disease was negative, and one showed weak diffuse staining
-
AJ Gill DE Benn A Chou, et al. 2010 Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes Hum Pathol 41 805 814 1:CAS:528:DC%2BC3cXmtFWlu7k%3D 10.1016/j.humpath.2009.12.005 20236688 These authors defined positive, weak diffuse, and negative immunohistochemistry staining for SDHB. All 12 SDH mutated tumors (6 SDHB, 5 SDHD, and 1 SDHC) showed weak diffuse or negative staining, whereas 9 of 10 tumors with known mutations of VHL, RET, or NF1 showed positive staining. One VHL-associated tumor showed weak diffuse staining; one PGL with no known SDH mutation but clinical features suggesting familial disease was negative, and one showed weak diffuse staining
-
(2010)
Hum Pathol
, vol.41
, pp. 805-814
-
-
Gill, A.J.1
Benn, D.E.2
Chou, A.3
-
49
-
-
67651198212
-
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: A retrospective and prospective analysis
-
10.1016/S1470-2045(09)70164-0 19576851 Immunohistochemistry for SDHB was done on 220 tumors. SDHB protein expression was absent in all 102 PHEOs and PGLs with an SDHB, SDHC, or SDHD mutation, but was present in all 65 tumors related to MEN 2, VHL, and NF1. Of the 53 PHEOs or PGLs with no syndromic germline mutation, 47 (89%) showed SDHB expression. The SDHB immunohistochemistry was 100% sensitive (95% CI, 87%-100%) in detecting the presence of an SDH mutation in the prospective series, and 84% specific (95% CI, 60%-97%)
-
FH van Nederveen J Gaal J Favier, et al. 2009 An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis Lancet Oncol 10 764 771 10.1016/S1470-2045(09)70164-0 19576851 Immunohistochemistry for SDHB was done on 220 tumors. SDHB protein expression was absent in all 102 PHEOs and PGLs with an SDHB, SDHC, or SDHD mutation, but was present in all 65 tumors related to MEN 2, VHL, and NF1. Of the 53 PHEOs or PGLs with no syndromic germline mutation, 47 (89%) showed SDHB expression. The SDHB immunohistochemistry was 100% sensitive (95% CI, 87%-100%) in detecting the presence of an SDH mutation in the prospective series, and 84% specific (95% CI, 60%-97%)
-
(2009)
Lancet Oncol
, vol.10
, pp. 764-771
-
-
Van Nederveen, F.H.1
Gaal, J.2
Favier, J.3
-
50
-
-
66149142195
-
Genetics of pheochromocytoma and paraganglioma in Spanish patients
-
10.1210/jc.2008-2756 19258401 This study analyzed 237 nonrelated probands for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. All syndromic probands were genetically diagnosed with a mutation affecting either RET or VHL. A total of 79.1% of patients presenting with nonsyndromic familial antecedents and 18.4% of those with apparently sporadic presentation were found to carry a mutation in one of the susceptibility genes
-
A Cascón G Pita N Burnichon, et al. 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients J Clin Endocrinol Metab 94 1701 1705 10.1210/jc.2008-2756 19258401 This study analyzed 237 nonrelated probands for the major susceptibility genes: VHL, RET, SDHB, SDHC, and SDHD. All syndromic probands were genetically diagnosed with a mutation affecting either RET or VHL. A total of 79.1% of patients presenting with nonsyndromic familial antecedents and 18.4% of those with apparently sporadic presentation were found to carry a mutation in one of the susceptibility genes
-
(2009)
J Clin Endocrinol Metab
, vol.94
, pp. 1701-1705
-
-
Cascón, A.1
Pita, G.2
Burnichon, N.3
-
51
-
-
70350217774
-
Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients
-
1:CAS:528:DC%2BD1MXhtlyqsb7J 10.1158/1078-0432.CCR-09-1237 19825962 Of 989 apparently nonsyndromic PHEOs, 187 (19%) harbored germline mutations. Predictors for the presence of mutation were estimated: age less than 45 years, multiple PHEOs, extra-adrenal location, and previous head-and-neck PGL
-
Z Erlic L Rybicki M Peczkowska, et al. 2009 Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients Clin Cancer Res 15 6378 6385 1:CAS:528:DC%2BD1MXhtlyqsb7J 10.1158/1078-0432.CCR-09-1237 19825962 Of 989 apparently nonsyndromic PHEOs, 187 (19%) harbored germline mutations. Predictors for the presence of mutation were estimated: age less than 45 years, multiple PHEOs, extra-adrenal location, and previous head-and-neck PGL
-
(2009)
Clin Cancer Res
, vol.15
, pp. 6378-6385
-
-
Erlic, Z.1
Rybicki, L.2
Peczkowska, M.3
-
52
-
-
33846432718
-
Pheochromocytoma: Recommendations for clinical practice from the First International Symposium
-
DOI 10.1038/ncpendmet0396, PII NCPENDMET0396
-
K Pacak G Eisenhofer H Ahlman, et al. 2007 International Symposium on Pheochromocytoma: Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005 Nat Clin Pract Endocrinol Metab 3 92 102 10.1038/ncpendmet0396 17237836 (Pubitemid 46146962)
-
(2007)
Nature Clinical Practice Endocrinology and Metabolism
, vol.3
, Issue.2
, pp. 92-102
-
-
Pacak, K.1
Eisenhofer, G.2
Ahlman, H.3
Bornstein, S.R.4
Gimenez-Roqueplo, A.-P.5
Grossman, A.B.6
Kimura, N.7
Mannelli, M.8
McNicol, A.M.9
Tischler, A.S.10
|