TY - JOUR
T1 - Non-neoplastic/hyperplastic primary aldosteronism – Its histopathology and genotype
AU - Yamazaki, Yuto
AU - Omata, Kei
AU - Tezuka, Yuta
AU - Gao, Xin
AU - Ogata, Hiroko
AU - Pieroni, Jacopo
AU - Ono, Yoshikiyo
AU - Morimoto, Ryo
AU - Nakamura, Yasuhiro
AU - Gomez-Sanchez, Celso E.
AU - Satoh, Fumitoshi
AU - Sasano, Hironobu
N1 - Publisher Copyright:
© 2019 Elsevier Ltd
PY - 2019/10
Y1 - 2019/10
N2 - Recent development of genetic analysis has revealed the molecular characteristics of aldosterone-producing adrenocortical lesions, including gene mutations of KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, CTNNB1, and CLCN2. In addition, CYP11B2-based immunohistochemical analysis has made it possible to classify non-neoplastic lesions of primary aldosteronism (PA) into two distinct histological subtypes based on the localization of aldosterone-producing cells: multiple adrenocortical micronodules (MN) and diffuse hyperplasia of zona glomerulosa (DH). Among MNs, CACNA1D somatic mutation was most frequently detected in 60–80% of micronodules. The number and size of those CYP11B2-positive cell clusters/micronodules could therefore contribute to the pathogenesis or development of hyperaldosteronism. In addition, this newly developed histology- and genetics-based classification of non-neoplastic PA lesions have enabled the precise identification of the responsible lesions of aldosterone excess and enormous improvement of postoperative clinical management of patients with adrenocortical disorders.
AB - Recent development of genetic analysis has revealed the molecular characteristics of aldosterone-producing adrenocortical lesions, including gene mutations of KCNJ5, ATP1A1, ATP2B3, CACNA1D, CACNA1H, CTNNB1, and CLCN2. In addition, CYP11B2-based immunohistochemical analysis has made it possible to classify non-neoplastic lesions of primary aldosteronism (PA) into two distinct histological subtypes based on the localization of aldosterone-producing cells: multiple adrenocortical micronodules (MN) and diffuse hyperplasia of zona glomerulosa (DH). Among MNs, CACNA1D somatic mutation was most frequently detected in 60–80% of micronodules. The number and size of those CYP11B2-positive cell clusters/micronodules could therefore contribute to the pathogenesis or development of hyperaldosteronism. In addition, this newly developed histology- and genetics-based classification of non-neoplastic PA lesions have enabled the precise identification of the responsible lesions of aldosterone excess and enormous improvement of postoperative clinical management of patients with adrenocortical disorders.
KW - CYP11B2
KW - Hyperplasia
KW - Immunohistochemistry
KW - KCNJ5
KW - Next-generation sequencing (NGS)
KW - Primary aldosteronism
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U2 - 10.1016/j.coemr.2019.08.006
DO - 10.1016/j.coemr.2019.08.006
M3 - Review article
AN - SCOPUS:85072202752
VL - 8
SP - 122
EP - 131
JO - Current Opinion in Endocrine and Metabolic Research
JF - Current Opinion in Endocrine and Metabolic Research
SN - 2451-9650
ER -
