Genotype-specific cortisol production associated with Cushing's syndrome adenoma with PRKACA mutations

Aumo, L., Rusten, M., Mellgren, G., Bakke, M., Lewis, A.E., 2010. Functional roles of

protein kinase A (PKA) and exchange protein directly activated by 3’,5’-cyclic

adenosine 5’-monophosphate (cAMP) 2 (EPAC2) in cAMP-mediated actions in

adrenocortical cells. Endocrinology 151, 2151–2161.

Baba, R., Oki, K., Kobuke, K., Itcho, K., Okubo, H., Ohno, H., Yoneda, M., Hattori, N.,

2018. Measurement of midnight ACTH levels is useful for the evaluation of midnight

cortisol levels. Steroids 140, 179–184.

Beuschlein, F., Fassnacht, M., Assie, G., Calebiro, D., Stratakis, C.A., Osswald, A.,

Ronchi, C.L., Wieland, T., Sbiera, S., Faucz, F.R., Schaak, K., Schmittfull, A.,

Schwarzmayr, T., Barreau, O., Vezzosi, D., Rizk-Rabin, M., Zabel, U., Szarek, E.,

Salpea, P., Forlino, A., Vetro, A., Zuffardi, O., Kisker, C., Diener, S., Meitinger, T.,

Lohse, M.J., Reincke, M., Bertherat, J., Strom, T.M., Allolio, B., 2014. Constitutive

activation of PKA catalytic subunit in adrenal Cushing’s syndrome. N. Engl. J. Med.

370, 1019–1028.

Calebiro, D., Bathon, K., Weigand, I., 2017. Mechanisms of Aberrant PKA activation by

calpha subunit mutations. Horm. Metab. Res. 49, 307–314.

Calebiro, D., Hannawacker, A., Lyga, S., Bathon, K., Zabel, U., Ronchi, C., Beuschlein, F.,

Reincke, M., Lorenz, K., Allolio, B., Kisker, C., Fassnacht, M., Lohse, M.J., 2014. PKA

catalytic subunit mutations in adrenocortical Cushing’s adenoma impair association

with the regulatory subunit. Nat. Commun. 5, 5680.

Cao, Y., He, M., Gao, Z., Peng, Y., Li, Y., Li, L., Zhou, W., Li, X., Zhong, X., Lei, Y., Su, T.,

Wang, H., Jiang, Y., Yang, L., Wei, W., Yang, X., Jiang, X., Liu, L., He, J., Ye, J.,

Wei, Q., Li, Y., Wang, W., Wang, J., Ning, G., 2014. Activating hotspot L205R

mutation in PRKACA and adrenal Cushing’s syndrome. Science 344, 913–917.

Di Dalmazi, G., Altieri, B., Scholz, C., Sbiera, S., Luconi, M., Waldman, J., Kastelan, D.,

Ceccato, F., Chiodini, I., Arnaldi, G., Riester, A., Osswald, A., Beuschlein, F.,

Sauer, S., Fassnacht, M., Appenzeller, S., Ronchi, C.L., 2020. RNA sequencing and

somatic mutation status of adrenocortical tumors: novel pathogenetic insights.

J. Clin. Endocrinol. Metab. 105.

Di Dalmazi, G., Kisker, C., Calebiro, D., Mannelli, M., Canu, L., Arnaldi, G., Quinkler, M.,

Rayes, N., Tabarin, A., Laure Jullie, M., Mantero, F., Rubin, B., Waldmann, J.,

Bartsch, D.K., Pasquali, R., Lohse, M., Allolio, B., Fassnacht, M., Beuschlein, F.,

Reincke, M., 2014. Novel somatic mutations in the catalytic subunit of the protein

kinase A as a cause of adrenal Cushing’s syndrome: a European multicentric study.

J. Clin. Endocrinol. Metab. 99, E2093–E2100.

Gao, X., Yamazaki, Y., Tezuka, Y., Pieroni, J., Ishii, K., Atsumi, N., Ono, Y., Omata, K.,

Morimoto, R., Nakamura, Y., Satoh, F., Sasano, H., 2020. Intratumoral heterogeneity

of the tumor cells based on in situ cortisol excess in cortisol-producing adenomas;

approximately an association among morphometry, genotype and cellular

senescence approximately. J. Steroid Biochem. Mol. Biol. 204, 105764.

Goh, G., Scholl, U.I., Healy, J.M., Choi, M., Prasad, M.L., Nelson-Williams, C.,

Kunstman, J.W., Korah, R., Suttorp, A.C., Dietrich, D., Haase, M., Willenberg, H.S.,

Stalberg, P., Hellman, P., Akerstrom, G., Bjorklund, P., Carling, T., Lifton, R.P., 2014.

Recurrent activating mutation in PRKACA in cortisol-producing adrenal tumors. Nat.

Genet. 46, 613–617.

Gomez-Sanchez, C.E., Qi, X., Velarde-Miranda, C., Plonczynski, M.W., Parker, C.R.,

Rainey, W., Satoh, F., Maekawa, T., Nakamura, Y., Sasano, H., Gomez-Sanchez, E.P.,

2014. Development of monoclonal antibodies against human CYP11B1 and

CYP11B2. Mol. Cell. Endocrinol. 383, 111–117.

R. Baba et al.

Molecular and Cellular Endocrinology 538 (2021) 111456

expression of the protein kinase A subunits in normal adrenal glands and

adrenocortical adenomas. Sci. Rep. 7, 49.

Weigand, I., Ronchi, C.L., Vanselow, J.T., Bathon, K., Lenz, K., Herterich, S.,

Schlosser, A., Kroiss, M., Fassnacht, M., Calebiro, D., Sbiera, S., 2021. PKA Calpha

subunit mutation triggers caspase-dependent RIIbeta subunit degradation via Ser

(114) phosphorylation. Sci Adv 7.

Zhou, W., Wu, L., Xie, J., Su, T., Jiang, L., Jiang, Y., Cao, Y., Liu, J., Ning, G., Wang, W.,

2016. Steroidogenic Acute regulatory protein overexpression correlates with protein

kinase A activation in adrenocortical adenoma. PloS One 11, e0162606.

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