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Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study
Mixed corticomedullary tumor is an adrenal tumor intermixed with cortical and medullary cells. It is extremely rare with unclear tumorigenesis. We reported a 32-year-old female, manifested with typical Cushing’s syndrome and hypertension, to be diagnosed with right huge adrenal mixed corticomedullar...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Neoplasia Press
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240194/ https://www.ncbi.nlm.nih.gov/pubmed/32438306 http://dx.doi.org/10.1016/j.neo.2020.04.003 |
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author | Chiou, Hsin-Ying Clair Jiang, He-Jiun Yang, Sheau-Fang Kuo, Kung-Kai Lin, Pi-Chen Hsiao, Pi-Jung |
author_facet | Chiou, Hsin-Ying Clair Jiang, He-Jiun Yang, Sheau-Fang Kuo, Kung-Kai Lin, Pi-Chen Hsiao, Pi-Jung |
author_sort | Chiou, Hsin-Ying Clair |
collection | PubMed |
description | Mixed corticomedullary tumor is an adrenal tumor intermixed with cortical and medullary cells. It is extremely rare with unclear tumorigenesis. We reported a 32-year-old female, manifested with typical Cushing’s syndrome and hypertension, to be diagnosed with right huge adrenal mixed corticomedullary tumor (8.8 cm). Right adrenalectomy was done to document the tumor intimately admixed with adrenal cortical adenoma and pheochromocytoma by biochemistry and immunohistochemistry. A case-control study was designed to explore the tumorigenesis of mixed corticomedullary tumor by whole exome sequencing. Expression of the stemness markers was controlled by a tissue array of 80 adrenal tumors. Overall, 1559 identical variants coexisted in parts of adrenal cortical adenoma and pheochromocytoma, which mainly (85.8%) originated from germline mutations. These enriched mutations were engaged in stemness control, coherent with substantial expression of the stemness markers (SOX2, CD44 and OCT4) in both parts. The differential stemness expressions were demonstrated in other adrenal tumors as well. The germline mutations were also enriched in signaling involving cancer proliferation, hypoxia inducible factor-1, focal adhesion and extracellular matrix receptor interaction. Somatic mutations affecting mitogen-activated protein kinase signaling, glycolysis and the citrate cycle were found in some tumor elements. This is the first study to verify the rare mixed corticomedullary tumor by molecular and genetic evidence to link with its phenotype. Germline mutations involving the stemness regulation and cancer proliferative signaling may drive intermixed tumor formation. Somatic mutations related to glycolysis and the citrate cycle may contribute to greater tumor outgrowth. |
format | Online Article Text |
id | pubmed-7240194 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Neoplasia Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-72401942020-05-26 Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study Chiou, Hsin-Ying Clair Jiang, He-Jiun Yang, Sheau-Fang Kuo, Kung-Kai Lin, Pi-Chen Hsiao, Pi-Jung Neoplasia Original article Mixed corticomedullary tumor is an adrenal tumor intermixed with cortical and medullary cells. It is extremely rare with unclear tumorigenesis. We reported a 32-year-old female, manifested with typical Cushing’s syndrome and hypertension, to be diagnosed with right huge adrenal mixed corticomedullary tumor (8.8 cm). Right adrenalectomy was done to document the tumor intimately admixed with adrenal cortical adenoma and pheochromocytoma by biochemistry and immunohistochemistry. A case-control study was designed to explore the tumorigenesis of mixed corticomedullary tumor by whole exome sequencing. Expression of the stemness markers was controlled by a tissue array of 80 adrenal tumors. Overall, 1559 identical variants coexisted in parts of adrenal cortical adenoma and pheochromocytoma, which mainly (85.8%) originated from germline mutations. These enriched mutations were engaged in stemness control, coherent with substantial expression of the stemness markers (SOX2, CD44 and OCT4) in both parts. The differential stemness expressions were demonstrated in other adrenal tumors as well. The germline mutations were also enriched in signaling involving cancer proliferation, hypoxia inducible factor-1, focal adhesion and extracellular matrix receptor interaction. Somatic mutations affecting mitogen-activated protein kinase signaling, glycolysis and the citrate cycle were found in some tumor elements. This is the first study to verify the rare mixed corticomedullary tumor by molecular and genetic evidence to link with its phenotype. Germline mutations involving the stemness regulation and cancer proliferative signaling may drive intermixed tumor formation. Somatic mutations related to glycolysis and the citrate cycle may contribute to greater tumor outgrowth. Neoplasia Press 2020-05-18 /pmc/articles/PMC7240194/ /pubmed/32438306 http://dx.doi.org/10.1016/j.neo.2020.04.003 Text en © 2020 The Authors. Published by Elsevier Inc. on behalf of Neoplasia Press, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Original article Chiou, Hsin-Ying Clair Jiang, He-Jiun Yang, Sheau-Fang Kuo, Kung-Kai Lin, Pi-Chen Hsiao, Pi-Jung Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title | Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title_full | Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title_fullStr | Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title_full_unstemmed | Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title_short | Stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
title_sort | stemness regulation of the adrenal mixed corticomedullary tumorigenesis-a case-control study |
topic | Original article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240194/ https://www.ncbi.nlm.nih.gov/pubmed/32438306 http://dx.doi.org/10.1016/j.neo.2020.04.003 |
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