RT Journal Article
T1 Adrenal mixed corticomedullary tumors: report of a case with molecular characterization and systematic review
A1 Pérez Béliz, Edurne
A1 Thorpe Plaza, Benjamín Alfonso
A1 Díaz-López, Everardo Josué
A1 Loidi, Lourdes
A1 Villalba Martín, Carmen
A1 Abdulkader Nallib, Ihab
A1 Cameselle Teijeiro, José Manuel
K1 Mixed corticomedullary tumor
K1 Adrenal tumor
K1 GNAS
K1 AKAP13
K1 EPAS1
K1 Arterial hypertension
AB Adrenal mixed corticomedullary tumors (MCMTs) are rare lesions showing a mixture of two cell populations of cortical and medullary lineage. We describe an MCMT case presented in a 56-year-old woman with a history of arterial hypertension and high levels of aldosterone, accompanied by a review of the literature. The adrenalectomy specimen showed a well-circumscribed nodule of 30 mm in size, containing 60% of cells with a cortical phenotype (positive for α-inhibin and melan-A) and 40% of cells with a medullary phenotype (positive for chromogranin-A, GATA-3 and somatostatin receptor 2). There was no significant mitotic activity, necrosis, nor lymphovascular invasion. The GNAS p.(Arg844Cys) mutation, as well as variants of uncertain significance AKAP13 p.(His641Pro) and EPAS1 p.(Ser478del) were detected in the tumor. MCMT is more common in women (75%) with a mean age of 46.6 years (range 16–78). Most patients present with hypertension (79%), frequently associated with Cushing’s syndrome, (39%), diabetes (21%), aldosteronism (15%), and/or hyperandrogenism (6%). Laboratory data showed elevated levels of both cortisol and cathecholamines and/or their metabolites in more than 50% of cases, supporting the dual nature of the tumor. Most MCMTs are benign, but aggressive behavior was detected in four (12%) cases, all of them showing large size (80–220 mm), poor delimitation, venous invasion, necrosis, and/or high proliferation rates. The pathogenesis is unknown, but our findings suggest a tumor histogenesis from the cortical cellular component through the regulation of the protein kinase A pathway and secondary proliferation of the medullary component.
PB Springer
SN 0945-6317
YR 2025
FD 2025-04-02
LK https://hdl.handle.net/10347/42437
UL https://hdl.handle.net/10347/42437
LA eng
NO Pérez-Béliz, E., Thorpe-Plaza, B.A., Díaz-López, E.J. et al. Adrenal mixed corticomedullary tumors: report of a case with molecular characterization and systematic review. Virchows Arch (2025). https://doi.org/10.1007/s00428-025-04091-9
NO Open Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. This work was supported (JMC-T) by Instituto de Salud Carlos III (ISCIII), Spain, grant PI23/00722, cofunded by the European Union.
DS Minerva
RD 28 abr 2026