Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene

被引：18

作者：

Griniatsos, John E. ^{[1
]}

Dimitriou, Nikoletta ^{[1
]}

Zilos, Athanassios ^{[2
]}

Sakellariou, Stratigoula ^{[3
]}

Evangelou, Konstantinos ^{[3
]}

Kamakari, Smaragda ^{[4
]}

Korkolopoulou, Penelope ^{[3
]}

Kaltsas, Gregory ^{[2
]}

机构：

[1] Univ Athens, Sch Med, Dept Surg 1, GR-11527 Athens, Greece

[2] Univ Athens, Sch Med, Dept Pathol Physiol, Div Endocrinol, GR-11527 Athens, Greece

[3] Univ Athens, Sch Med, Dept Pathol, GR-11527 Athens, Greece

[4] BioGenom Genet Tests Ctr, Athens, Greece

来源：

WORLD JOURNAL OF SURGICAL ONCOLOGY | 2011年 / 9卷

关键词：

ADRENAL INVOLVEMENT; LESIONS; TUMORS; IDENTIFICATION; GUIDELINES;

D O I：

10.1186/1477-7819-9-6

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.

引用

页数：7

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