Tumor-specific KCNJ5 mutation in an aldosterone-producing adenoma not detected in adrenal venous plasma cell-free DNA
Daisuke Aono, Toshiaki Kato, Mitsuhiro Kometani, Takashi Yoneda, Kazuyoshi Hosomichi, Shigehiro Karashima · 2026
Read Tumor-specific KCNJ5 mutation in an aldosterone-producing adenoma not detected in adrenal venous plasma cell-free DNA by Daisuke Aono, Toshiaki Kato, Mitsuhiro Kometani, Takashi Yoneda, Kazuyoshi Hosomichi, Shigehiro Karashima (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13522837.txt.
Description
Daisuke Aono and five co-authors report a hormone tumor whose gene fault could not be found in blood DNA, even in blood drawn from the gland's own vein. Their case report was published in twenty twenty-six. Tumor DNA in blood is detectable in adrenal cancer, but its reach in benign adrenal tumors was unclear.
The patient was a thirty-four-year-old man with primary aldosteronism and an eleven-millimeter left adrenal mass. Vein sampling confirmed the left gland overproduced the hormone. After removal, sequencing of the tumor found a fault in a gene called KCNJ5. The same fault was absent from cell-free DNA in arm and adrenal vein blood, despite ideal sampling. The case tempers hopes for blood-based gene checks in small benign tumors.
Catalog record
| CREATOR | Daisuke Aono, Toshiaki Kato, Mitsuhiro Kometani, Takashi Yoneda, Kazuyoshi Hosomichi, Shigehiro Karashima |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 23 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |