Genetic screening for von Hippel-Lindau gene mutations in non-syndromic pheochromocytoma: Low prevalence and false-positives or misdiagnosis indicate a need for caution

Hormone and Metabolic Research

Volumn 44, Issue 5, 2012, Pages 343-348

  Eisenhofer, G ^a   Vocke, C D ^b   Elkahloun, A ^c   Huynh, T T ^d   Prodanov, T ^d   Lenders, J W M ^e   Timmers, H J ^e   Benhammou, J N ^b   Linehan, W M ^b   Pacak, K ^d  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b NATIONAL CANCER INSTITUTE   (United States)

^c NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^d EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

germline mutations; loss of heterozygosity; mutation testing; paraganglioma; pheochromocytoma; von Hippel Lindau syndrome

Indexed keywords

DNA; METADRENALIN; VON HIPPEL LINDAU PROTEIN;

CANCER DIAGNOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC ERROR; FALSE POSITIVE RESULT; GENE AMPLIFICATION; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HETEROZYGOSITY LOSS; HUMAN; LABORATORY TEST; PERITONEUM METASTASIS; PHEOCHROMOCYTOMA; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; REVIEW; SOUTHERN BLOTTING; TUMOR GENE; VON HIPPEL LINDAU DISEASE;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ADULT; AGED; AGED, 80 AND OVER; BASE SEQUENCE; CATECHOLAMINES; CHILD; DIAGNOSTIC ERRORS; FEMALE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PHEOCHROMOCYTOMA; PREVALENCE; VON HIPPEL-LINDAU DISEASE; VON HIPPEL-LINDAU TUMOR SUPPRESSOR PROTEIN; YOUNG ADULT;

EID: 84860841575     PISSN: 00185043     EISSN: 14394286     Source Type: Journal    
DOI: 10.1055/s-0032-1304662     Document Type: Review

References (25)

1. Neumann H P, Bausch B, McWhinney S R, Bender B U, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Smith W M, Munk R, Manz T, Glaesker S, Apel T W, Treier M, Reineke M, Walz M K, Hoang-Vu C, Brauckhoff M, Klein-Franke A, Klose P, Schmidt H, Maier-Woelfle M, Peczkowska M, Szmigielski C. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med: 2002; 346 1459 1466 (Pubitemid 34755714)
2. 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 S, Rohmer V, Sadoul J L, Strompf L, Schlumberger M, Bertagna X, Plouin P F, Jeunemaitre X, Gimenez-Roqueplo A P. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol: 2005; 23 8812 8818 (Pubitemid 46211527)
3. Cascon A, Pita G, Burnichon N, Landa I, Lopez-Jimenez E, Montero-Conde C, Leskela S, Leandro-Garcia L J, Leton R, Rodriguez-Antona C, Diaz J A, Lopez-Vidriero E, Gonzalez-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo A P, Robledo M. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab: 2009; 94 1701 1705
4. Bayley J P, Kunst H P, Cascon A, Sampietro M L, Gaal J, Korpershoek E, Hinojar-Gutierrez A, Timmers H J, Hoefsloot L H, Hermsen M A, Suarez C, Hussain A K, Vriends A H, Hes F J, Jansen J C, Tops C M, Corssmit E P, de Knijff P, Lenders J W, Cremers C W, Devilee P, Dinjens W N, de Krijger R R, Robledo M. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol: 2010; 11 366 372
5. Qin Y, Yao L, King E E, Buddavarapu K, Lenci R E, Chocron E S, Lechleiter J D, Sass M, Aronin N, Schiavi F, Boaretto F, Opocher G, Toledo R A, Toledo S P, Stiles C, Aguiar R C, Dahia P L. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet: 2010; 42 229 233
6. Comino-Mndez I, Gracia-Aznrez F J, Schiavi F, Landa I, Leandro-Garca L J, Letn R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gmez-Graa A, de Cubas A A, Inglada-Prez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernndez-Lavado R, Daz J A, Gmez-Morales M, Gonzlez-Neira A, Roncador G, Rodrguez-Antona C, Bentez J, Mannelli M, Opocher G, Robledo M, Cascn A. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet: 2011; 43 663 667
7. Pacak K, Eisenhofer G, Ahlman H, Bornstein S R, Gimenez-Roqueplo A P, Grossman A B, Kimura N, Mannelli M, McNicol A M, Tischler A S. Pheochromocytoma: recommendations for clinical practice from the First International Symposium. Nat Clin Pract Endocrinol Metab: 2007; 3 92 102 (Pubitemid 46146962)
8. Hattori K, Teranishi J, Stolle C, Yoshida M, Kondo K, Kishida T, Kanno H, Baba M, Kubota Y, Yao M. Detection of germline deletions using real-time quantitative polymerase chain reaction in Japanese patients with von Hippel-Lindau disease. Cancer Sci: 2006; 97 400 405
9. Eisenhofer G, Pacak K, Huynh T T, Qin N, Bratslavsky G, Linehan W M, Mannelli M, Friberg P, Grebe S K, Timmers H J, Bornstein S R, Lenders J W. Catecholamine metabolomic and secretory phenotypes in phaeochromocytoma. Endocr Relat Cancer: 2011; 18 97 111
10. Eisenhofer G, Lenders J W, Timmers H, Mannelli M, Grebe S K, Hofbauer L C, Bornstein S R, Tiebel O, Adams K, Bratslavsky G, Linehan W M, Pacak K. Measurements of plasma methoxytyramine, normetanephrine, and metanephrine as discriminators of different hereditary forms of pheochromocytoma. Clin Chem: 2011; 57 411 420
11. Benhammou J N, Vocke C D, Santani A, Schmidt L S, Baba M, Seyama K, Wu X, Korolevich S, Nathanson K L, Stolle C A, Linehan W M. Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dube syndrome. Genes Chromosomes Cancer: 2011; 50 466 477
12. Brauch H, Hoeppner W, Jahnig H, Wohl T, Engelhardt D, Spelsberg F, Ritter M M. Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene. J Clin Endocrinol Metab: 1997; 82 4101 4104 (Pubitemid 27525521)
13. Pigny P, Cardot-Bauters C, Do Cao C, Vantyghem M C, Carnaille B, Pattou F, Caron P, Wemeau J L, Porchet N. Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? Eur J Endocrinol: 2009; 160 227 231
14. Eisenhofer G, Walther M M, Huynh T T, Li S T, Bornstein S R, Vortmeyer A, Mannelli M, Goldstein D S, Linehan W M, Lenders J W, Pacak K. Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes. J Clin Endocrinol Metab: 2001; 86 1999 2008 (Pubitemid 32472911)
15. Dahia P L, Ross K N, Wright M E, Hayashida C Y, Santagata S, Barontini M, Kung A L, Sanso G, Powers J F, Tischler A S, Hodin R, Heitritter S, Moore F, Dluhy R, Sosa J A, Ocal I T, Benn D E, Marsh D J, Robinson B G, Schneider K, Garber J, Arum S M, Korbonits M, Grossman A, Pigny P, Toledo S P, Nose V, Li C, Stiles C D. A HIF1alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet: 2005; 1 72 80
16. Eisenhofer G, Huynh T T, Pacak K, Brouwers F M, Walther M M, Linehan W M, Munson P J, Mannelli M, Goldstein D S, Elkahloun A G. Distinct gene expression profiles in norepinephrine- and epinephrine-producing hereditary and sporadic pheochromocytomas: activation of hypoxia-driven angiogenic pathways in von Hippel-Lindau syndrome. Endocr Rel Cancer: 2004; 11 897 911 (Pubitemid 40065561)
17. Zbar B, Kishida T, Chen F, Schmidt L, Maher E R, Richards F M, Crossey P A, Webster A R, Affara N A, Ferguson-Smith M A, Brauch H, Glavac D, Neumann HP H, Tisherman S, Mulvihill J J, Gross D J, Shuin T, Whaley J, Seizinger B, Kley N, Olschwang S, Boisson C, Richard S, Lips CH M, Linehan W M, Lerman M. Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat: 1996; 8 348 357 (Pubitemid 26412151)
18. Young A C, Craven R A, Cohen D, Taylor C, Booth C, Harnden P, Cairns D A, Astuti D, Gregory W, Maher E R, Knowles M A, Joyce A, Selby P J, Banks R E. Analysis of VHL gene alterations and their relationship to clinical parameters in sporadic conventional renal cell carcinoma. Clin Cancer Res: 2009; 15 7582 7592
19. Ercolino T, Becherini L, Valeri A, Maiello M, Gagliano M S, Parenti G, Ramazzotti M, Piscitelli E, Simi L, Pinzani P, Nesi G, DeglInnocenti D, Console N, Bergamini C, Mannelli M. Uncommon clinical presentations of pheochromocytoma and paraganglioma in two different patients affected by two distinct novel VHL germline mutations. Clin Endocrinol (Oxf): 2008; 68 762 768 (Pubitemid 351533451)
20. Solano A R, Dourisboure R J, Weitzel J, Podesta E J. A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele. Eur J Hum Genet: 2002; 10 395 397 (Pubitemid 34812297)
21. Ramus S J, Harrington P A, Pye C, Peock S, Cook M R, Cox M J, Jacobs I J, DiCioccio R A, Whittemore A S, Piver M S. Embrace Easton D F, Ponder B A, Pharoah P D, Gayther S A. Screening for the BRCA1-ins6kbEx13 mutation: potential for misdiagnosis. Mutation in brief #964. Online. Hum Mutat: 2007; 28 525 526
22. Choi J H, Velayati A, Stubblefield B K, Orr-Urtreger A, Gan-Or Z, Tayebi N, Sidransky E. False-positive results using a Gaucher diagnostic kit - RecTL and N370S. Mol Genet Metab: 2010; 100 100 102
23. Miolo G, Crovatto M, Manno M, Pivetta B, Tessitori G, Picci L. Heterozygous variant at nucleotide position 875+11A>T in exon 6A cystic fibrosis transmembrane conductance regulator gene induces 852del22 mutation false-positivity by line probe assay. Fertil Steril: 2011; 95 1121 e1121 e1124
24. Cascon A, Lopez-Jimenez E, Landa I, Leskela S, Leandro-Garcia L J, Maliszewska A, Leton R, de la Vega L, Garcia-Barcina M J, Sanabria C, Alvarez-Escola C, Rodriguez-Antona C, Robledo M. Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma. Horm Metab Res: 2009; 41 672 675
25. Eisenhofer G, Timmers H, Lenders J W, Bornstein S R, Tiebel O, Mannelli M, King K S, Vocke C, Linehan W M, Bratslavsky G, Pacak K. Age at diagnosis of pheochromocytoma differs according to catecholamine phenotype and tumor location. J Clin Endocrinol Metab: 2011; 96 375 384