PMID- 30721134
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201001
IS  - 2049-3614 (Print)
IS  - 2049-3614 (Electronic)
IS  - 2049-3614 (Linking)
VI  - 8
IP  - 3
DP  - 2019 Mar 1
TI  - Adrenocortical carcinoma in patients with MEN1: a kindred report and review of 
      the literature.
PG  - 230-238
LID - EC-18-0526 [pii]
LID - 10.1530/EC-18-0526 [doi]
AB  - Objective Up to 40% of multiple endocrine neoplasia type 1 (MEN1) patients may 
      have adrenal cortical tumors. However, adrenocortical carcinoma (ACC) is rare. 
      The clinical manifestations, prevalence, inheritance and prognosis of ACC 
      associated with MEN1 remain unclear. Here we report the clinical manifestations 
      and prevalence of ACC in patients with MEN1. Design and methods A retrospective 
      analysis of ACC associated with MEN1 patients at a single tertiary care center 
      from December 2001 to June 2017. Genetic analysis of MEN1 and other ACC 
      associated genes, loss of heterozygosity (LOH) of MEN1 locus, 
      immunohistochemistry staining of menin, P53 and beta-catenin in ACC tissue were 
      performed. Results Two related patients had ACC associated with MEN1. The father 
      had ENSAT stage IV tumor with excessive production of cortisol; the daughter had 
      nonfunctional ENSAT stage I tumor. Both patients carried novel germline 
      heterozygous mutation (c.400_401insC) of MEN1. The wild-type MEN1 allele was lost 
      in the resected ACC tissue from the daughter with no menin staining. The ACC 
      tissue had nuclear beta-catenin staining, with heterozygous CTNNB1 mutation of 
      357del24 and P53 staining in only 20% cells. Conclusions ACC associated with MEN1 
      is rare and may occur in familial aggregates.
FAU - Wang, Weixi
AU  - Wang W
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
FAU - Han, Rulai
AU  - Han R
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
FAU - Ye, Lei
AU  - Ye L
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
FAU - Xie, Jing
AU  - Xie J
AD  - Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University, School 
      of Medicine, Shanghai, China.
FAU - Tao, Bei
AU  - Tao B
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
FAU - Sun, Fukang
AU  - Sun F
AD  - Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of 
      Medicine, Shanghai, China.
FAU - Zhuo, Ran
AU  - Zhuo R
AD  - Department of Urology, Ruijin Hospital, Shanghai Jiao Tong University, School of 
      Medicine, Shanghai, China.
FAU - Chen, Xi
AU  - Chen X
AD  - Department of General Surgery, Ruijin Hospital, Shanghai Jiaotong University, 
      School of Medicine, Shanghai, China.
FAU - Deng, Xiaxing
AU  - Deng X
AD  - Pancreatic Disease Centre, Ruijin Hospital, Shanghai Jiao Tong University, School 
      of Medicine, Shanghai, China.
FAU - Ye, Cong
AU  - Ye C
AD  - Department of Thoracic Surgery, Shanghai Pulmonary Hospital, Tongji University, 
      Shanghai, China.
FAU - Zhao, Hongyan
AU  - Zhao H
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
FAU - Wang, Shu
AU  - Wang S
AD  - Shanghai Key Laboratory for Endocrine Tumors, Shanghai Clinical Center for 
      Endocrine and Metabolic Diseases, Shanghai Institute of Endocrine and Metabolic 
      Diseases and Shanghai E-Institute for Endocrinology, Ruijin Hospital, Shanghai 
      Jiaotong University, School of Medicine, Shanghai, China.
LA  - eng
PT  - Journal Article
PL  - England
TA  - Endocr Connect
JT  - Endocrine connections
JID - 101598413
PMC - PMC6391906
OTO - NOTNLM
OT  - CTNNB1
OT  - TP53
OT  - adrenocortical carcinoma (ACC)
OT  - multiple endocrine neoplasia type 1 (MEN1)
EDAT- 2019/02/06 06:00
MHDA- 2019/02/06 06:01
PMCR- 2019/02/04
CRDT- 2019/02/06 06:00
PHST- 2018/12/11 00:00 [received]
PHST- 2019/02/04 00:00 [accepted]
PHST- 2019/02/06 06:00 [pubmed]
PHST- 2019/02/06 06:01 [medline]
PHST- 2019/02/06 06:00 [entrez]
PHST- 2019/02/04 00:00 [pmc-release]
AID - EC-18-0526 [pii]
AID - 10.1530/EC-18-0526 [doi]
PST - ppublish
SO  - Endocr Connect. 2019 Mar 1;8(3):230-238. doi: 10.1530/EC-18-0526.