TMEM127 Screening in a Large Cohort of Patients with Pheochromocytoma and/or Paraganglioma

被引：43

作者：

Abermil, Nassera ^{[4
]}

Guillaud-Bataille, Marine

Burnichon, Nelly ^{[3
,4
]}

Venisse, Annabelle

Manivet, Philippe ^{[5
,6
]}

Guignat, Laurence ^{[7
]}

Drui, Delphine ^{[10
]}

Chupin, Maurice

Josseaume, Claire ^{[11
]}

Affres, Helene ^{[12
]}

Plouin, Pierre-Francois ^{[2
,3
,4
]}

Bertherat, Jerome ^{[4
,7
,8
,9
]}

Jeunemaitre, Xavier ^{[3
,4
]}

Gimenez-Roqueplo, Anne-Paule ^{[1
,3
,4
]}

机构：

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

[2] Hop Europeen Georges Pompidou, AP HP, Serv Med Vasc & Hypertens Arterielle, F-75015 Paris, France

[3] Paris Cardiovasc Res Ctr, INSERM, UMR 970, F-75015 Paris, France

[4] Univ Paris 05, Fac Med, F-75006 Paris, France

[5] Hop Lariboisiere, AP HP, Serv Biochim & Biol Mol, F-75010 Paris, France

[6] Univ Evry Val dEssonne 829, INSERM, F-91030 Evry, France

[7] Inst Cochin Genet Mol, AP HP, Serv Malad Endocriniennes & Metab, Grp Cochin St Vincent de Paul, F-75014 Paris, France

[8] Inst Cochin Genet Mol, INSERM, Dept Endocrinol Metab & Canc, CNRS,UMR 8104,U1016, F-75014 Paris, France

[9] Natl Canc Inst, Rare Adrenal Canc Network Cort Medullosurrenale T, F-75014 Paris, France

[10] CHU Nantes, Serv Endocrinol, F-44093 Nantes, France

[11] Ctr Hosp Univ Rennes, Serv Endocrinol & Diabetol, F-35203 Rennes, France

[12] Ctr Hosp Univ Kremlin Bicetre, AP HP, Serv Endocrinol & Malad Reprod, F-94275 Le Kremlin Bicetre, France

来源：

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM | 2012年 / 97卷 / 05期

关键词：

GERMLINE MUTATIONS; GENE;

D O I：

10.1210/jc.2011-3360

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Context: TMEM127 is a novel pheochromocytoma (PCC) susceptibility gene. Objectives: Our aim was to clearly determine the indications for TMEM127 genetic testing in patients with PCC and/or paraganglioma (PGL). Patients and Methods: Germline DNA from 642 unrelated patients who did not carry mutations in majorPCCsusceptibility genes was analyzed. Five hundred fifty-nine patients were affected by PCC, 72 by PGL (22 with head and neck and 50 with thoracic or abdominal location), and 11 by both PCC and PGL. Analysis of the TMEM127 gene was performed by direct sequencing and quantitative multiplex PCR of short fluorescent fragments. Results: In our cohort six mutations (0.9%) were identified. Three of them (p.Ala47Asp, p.Gln64HisfsX18, p.Tyr164X) were found in patients exhibiting clinical criteria for a hereditary disease (young age at diagnosis, bilateral PCC, or family history). The three others (p.Gln157X, p.Val68SerfsX13, p.Val90Met) were detected in patients with an apparently sporadic presentation. No mutation was found among patients with PGL, and no large chromosomal rearrangement spanning the TMEM127 gene was detected. Conclusions: Our results combined with the two previous studies suggest that direct sequencing of TMEM127 should be considered, after a negative screening of VHL, RET, SDHB, and SDHD genes, in patients with PCC. (J Clin Endocrinol Metab 97: E805-E809, 2012)

引用

页码：E805 / E809

页数：5

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