A Case of Familial Carney Complex

被引：0

作者：

Zhang, Yan-Li ^{[1
]}

Wang, Xiao-Cong ^{[1
]}

Yu, Wei ^{[1
]}

Pei, Li-Ping ^{[1
]}

Ma, Yan ^{[1
]}

Jiang, Shu ^{[1
]}

Sun, Yun-Peng ^{[1
]}

机构：

[1] Jilin Univ, Hosp 1, Dept Echocardiog, Cardiovasc Ctr, Changchun 130021, Jilin, Peoples R China

来源：

ARCHIVES OF IRANIAN MEDICINE | 2015年 / 18卷 / 05期

关键词：

Carney complex; Leydig's cell tumors; myxomas; PRKAR1A gene; schwannomas; Sertoli cell tumors; skin lentigines; PROTEIN-KINASE-A; DIAGNOSTIC-CRITERIA; MOLECULAR-GENETICS; PRKAR1A; MYXOMA; MANIFESTATIONS; LENTIGINOSIS; MUTATIONS; NEOPLASIA; DISEASE;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Carney complex is a syndrome characterized by skin pigmentation abnormalities, mykomas, endocrine tumors/overactivity, and schwannomas. It is caused-by a mutation in the PRKAR1A gene that encodes the enzyme protein kinase A regulatory subunit type 1 alpha. A 23-year old male was diagnosed with Carney complex on the basis of spotty skin lentigines on his face and lips; multiple thyroid neoplasms, a right ventricular myxoma, and bilateral testicular-tumors. A total bilateral orchectomy was performed and the pathological findings revealed Leydig's cell tumors on one side and a Sertoli cell tumor on the other side. When his first-degree relatives were examined, his mother was found to have Carney complex as well. This is the first reported case of familial Carney complex in China.

引用

页码：324 / 328

页数：5

共 22 条

[1] Carney complex and other conditions associated with micronodular adrenal hyperplasias [J].

Almeida, Madson Q. ;

Stratakis, Constantine A. .

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 24 (06) :907-914

[2] Myocardial infarction as complication of left atrial myxoma [J].

Braun, S ;

Schrötter, H ;

Reynen, K ;

Schwencke, C ;

Strasser, RH .

INTERNATIONAL JOURNAL OF CARDIOLOGY, 2005, 101 (01) :115-121

[3]

Camey JA, 1986, ARCH DERMATOL, V122, P790

[4] Identification of a novel genetic locus for familial cardiac myxomas and Carney complex [J].

Casey, M ;

Mah, C ;

Merliss, AD ;

Kirschner, LS ;

Taymans, SE ;

Denio, AE ;

Korf, B ;

Irvine, AD ;

Hughes, A ;

Carney, JA ;

Stratakis, CA ;

Basson, CT .

CIRCULATION, 1998, 98 (23) :2560-2566

[5] Inactivation of the Carney complex gene 1 (PRKAR1A) alters spatiotemporal regulation of cAMP and cAMP-dependent protein kinase: a study using genetically encoded FRET-based reporters [J].

Cazabat, Laure ;

Ragazzon, Bruno ;

Varin, Audrey ;

Potier-Cartereau, Marie ;

Vandier, Christophe ;

Vezzosi, Delphine ;

Risk-Rabin, Marthe ;

Guellich, Aziz ;

Schittl, Julia ;

Lechene, Patrick ;

Richter, Wito ;

Nikolaev, Viacheslav O. ;

Zhang, Jin ;

Bertherat, Jerome ;

Vandecasteele, Gregoire .

HUMAN MOLECULAR GENETICS, 2014, 23 (05) :1163-1174

[6] MUCOCUTANEOUS PIGMENTED SPOTS AND ORAL MYXOMAS - THE ORAL MANIFESTATIONS OF THE COMPLEX OF MYXOMAS, SPOTTY PIGMENTATION, AND ENDOCRINE OVERACTIVITY [J].

COOK, CA ;

LUND, BA ;

CARNEY, JA .

ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTOLOGY, 1987, 63 (02) :175-183

[7]

GRANDE EJL, 2011, ENDOCRINOL NUTR, V58, P308

[8] Large deletions of the PRKAR1A gene in Carney complex [J].

Horvath, Anelia ;

Bossis, Loannis ;

Giatzakis, Christoforos ;

Levine, Elizabeth ;

Weinberg, Frank ;

Meoli, Elise ;

Robinson-White, Audrey ;

Siegel, Jennifer ;

Soni, Payal ;

Groussin, Lionel ;

Matyakhina, Ludmila ;

Verma, Somya ;

Remmers, Elaine ;

Nesterova, Maria ;

Carney, J. Aidan ;

Bertherat, Jerome ;

Stratakis, Constantine A. .

CLINICAL CANCER RESEARCH, 2008, 14 (02) :388-395

[9] Carney complex and lentiginosis [J].

Horvath, Anelia ;

Stratakis, Constantine A. .

PIGMENT CELL & MELANOMA RESEARCH, 2009, 22 (05) :580-587

[10] Mutations of the gene encoding the protein kinase A type I-α regulatory subunit in patients with the Carney complex [J].

Kirschner, LS ;

Carney, JA ;

Pack, SD ;

Taymans, SE ;

Giatzakis, C ;

Cho, YS ;

Cho-Chung, YS ;

Stratakis, CA .

NATURE GENETICS, 2000, 26 (01) :89-92

← 1 2 3 →