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. 2016 Dec 14;102(4):1182–1192. doi: 10.1210/jc.2016-2986

Figure 4.

Figure 4.

Aldosterone-driver gene somatic mutation profiles in MN and DH. (A) Seven unilateral cases (MN, 5 cases; DH, 2 cases) were analyzed with NGS. In total, 42 CYP11B2-positive areas were isolated using macrodissection (with corresponding CYP11B2-negative adrenal cortex for control). Variant allele frequency (VAF) and flow-corrected read depth (FDP) are shown from both panels used to sequence the CYP11B2-positive micronodules. (B) Aldosterone-driver somatic gene mutation profiles in MN. Mutations were detected in 81% (n = 21 of 26) of micronodules recognized in MN. Among these, the mutations of KCNJ5 (n = 2 of 26; 7.7%), ATP1A1 (n = 1 of 26; 3.8%), ATP2B3 (n = 1 of 26; 3.8%), and CACNA1D (n = 17 of 26; 65.4%) were detected in the cortical micronodules of MN, respectively. In the cases examined in this study, 19.2% (n = 5 of 26) of micronodules were wild type (WT).