Table 1.
Patient ID | Age at operation | Gender | Diagnosis | Histopathology | Germline ARMC5 mutation status |
---|---|---|---|---|---|
III-1 | 69 | M | Cushing's due to PBMAH | PBMAH | Chr16:g.31476121; c.1777C→T; p.(R593W) |
III-2 | 62 | M | Cushing's due to PBMAH | PBMAH | Chr16:g.31476121; c.1777C→T; p.(R593W) |
III-3 | 66 | M | Cushing's due to PBMAH | PBMAH | Chr16:g.31476121; c.1777C→T; p.(R593W) |
CS-01 | 39 | F | Cushing's syndrome | Adrenal adenoma | not tested |
CS-02 | 48 | F | Cushing's syndrome | Adrenal adenoma | not tested |
PA-01 | 57 | M | Primary aldosteronism | Adrenal adenoma | not tested |
PA-02 | 76 | M | Primary aldosteronism | Adrenal hyperplasia - micro- and macronodular | not tested |
PA-03 | 50 | M | Primary aldosteronism | Adrenal hyperplasia - micro- and macronodular | not tested |
N-1 | 50 | M | normal adrenal gland a | N/A | not tested |
N-2 | unknown | M | normal adrenal gland b | N/A | not tested |
For RPB1 expression analysis, PBMAH macronodules were obtained from resected adrenal glands of PBMAH patients with germline ARMC5 mutations. Adrenal gland adenomas and adrenocortical carcinoma tissues not known to have ARMC5 mutations were used as controls. The clinical diagnosis and histopathology of the patients are indicated. aThe normal adrenal gland of patient N-1 was obtained from normal tissues adjacent to the adrenal gland adenoma of patient PA-03. bNormal adrenal gland N-2 was obtained from a patient undergoing nephrectomy for renal cell carcinoma. PBMAH: primary bilateral macronodular adrenal gland hyperplasia. N/A: not applicable.