Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma
Objective Aldosterone-producing adrenocortical carcinoma(ACC) is an uncommon disease.In this paper, the genetic mutations of aldosterone-producing ACC are studied by whole-exome sequencing. Methods Clinical data of the patient with aldosterone-producing ACC were collected. DNA was extracted from p...
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| Format: | Article |
| Language: | zho |
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Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2020-09-01
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| Series: | Jichu yixue yu linchuang |
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| Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2020-40-9-1190.pdf |
| _version_ | 1797365655736942592 |
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| author | WANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li |
| author_facet | WANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li |
| author_sort | WANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li |
| collection | DOAJ |
| description | Objective Aldosterone-producing adrenocortical carcinoma(ACC) is an uncommon disease.In this paper, the genetic mutations of aldosterone-producing ACC are studied by whole-exome sequencing. Methods Clinical data of the patient with aldosterone-producing ACC were collected. DNA was extracted from paraffin-embedded tissues and peripheral blood, then the whole-exome sequencing was carried out to identify germline and somatic mutations. Results There was no mutation associated with hereditary adrenocortical tumors and familial hyperaldosteronism in peripheral blood DNA. A total of 349 somatic mutations were found in tumor tissues, which were mainly enriched in tumorigenesis and calcium signaling pathways. Mutations related to the growth of adrenocortical tumor, CTNNB1, CDKN2A and MSH6, were detected, while no mutation related to aldosterone synthesis as KCNJ5, ATP1A1, ATP2B3 and CACNA1D was found in the tumor tissue. Conclusions The tumor- igenesis of aldosterone-producing ACC is related to CTNNB1, CDKN2A and MSH6, but the mechanism of promoting aldosterone production is still uncertain. |
| first_indexed | 2024-03-08T16:52:40Z |
| format | Article |
| id | doaj.art-21b427cb77ed43aea450b74cca558277 |
| institution | Directory Open Access Journal |
| issn | 1001-6325 |
| language | zho |
| last_indexed | 2024-03-08T16:52:40Z |
| publishDate | 2020-09-01 |
| publisher | Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. |
| record_format | Article |
| series | Jichu yixue yu linchuang |
| spelling | doaj.art-21b427cb77ed43aea450b74cca5582772024-01-05T03:17:21ZzhoInstitute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.Jichu yixue yu linchuang1001-63252020-09-0140911901194Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinomaWANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li01. Department of Endocrinology, Key Laboratory of Endocrinology of National Health Commission; ;2. Graduate school, Hebei North University, Zhangjiakou 075000, China; ;3. Department of pathology,Peking Union Medical College Hospital, CAMS & PUMC, Beijing 100730Objective Aldosterone-producing adrenocortical carcinoma(ACC) is an uncommon disease.In this paper, the genetic mutations of aldosterone-producing ACC are studied by whole-exome sequencing. Methods Clinical data of the patient with aldosterone-producing ACC were collected. DNA was extracted from paraffin-embedded tissues and peripheral blood, then the whole-exome sequencing was carried out to identify germline and somatic mutations. Results There was no mutation associated with hereditary adrenocortical tumors and familial hyperaldosteronism in peripheral blood DNA. A total of 349 somatic mutations were found in tumor tissues, which were mainly enriched in tumorigenesis and calcium signaling pathways. Mutations related to the growth of adrenocortical tumor, CTNNB1, CDKN2A and MSH6, were detected, while no mutation related to aldosterone synthesis as KCNJ5, ATP1A1, ATP2B3 and CACNA1D was found in the tumor tissue. Conclusions The tumor- igenesis of aldosterone-producing ACC is related to CTNNB1, CDKN2A and MSH6, but the mechanism of promoting aldosterone production is still uncertain.http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2020-40-9-1190.pdfaldosterone-producing adrenocortical carcinomas|somatic mutation|whole-exome sequencing |
| spellingShingle | WANG Hui-ping, CHANG Xiao-yan, MA Xiao-sen, TONG An-li Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma Jichu yixue yu linchuang aldosterone-producing adrenocortical carcinomas|somatic mutation|whole-exome sequencing |
| title | Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma |
| title_full | Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma |
| title_fullStr | Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma |
| title_full_unstemmed | Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma |
| title_short | Whole-exome sequencing for a rare case of aldosterone-producing adrenocortical carcinoma |
| title_sort | whole exome sequencing for a rare case of aldosterone producing adrenocortical carcinoma |
| topic | aldosterone-producing adrenocortical carcinomas|somatic mutation|whole-exome sequencing |
| url | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/1001-6325-2020-40-9-1190.pdf |
| work_keys_str_mv | AT wanghuipingchangxiaoyanmaxiaosentonganli wholeexomesequencingforararecaseofaldosteroneproducingadrenocorticalcarcinoma |