EYES2023 Poster Presentations Guided Poster Tour 1: Adrenal and Neuroendocrine tumors (10 abstracts)
Proposition of an histopathological classification of bilateral macronodular adrenal disease (BMAD) and its correlation with ARMC5 and KDM1A mutations
Florian Violon 1 , Lucas Bouys 2 , Annabel Berthon 3 , Ragazzon Bruno 4 , Maxime Barrat 5 , Benoit Terris 5 , Jerome Bertherat 6 & Mathilde Sibony 3
1Cochin Institute, Genomic and Signaling of Neuroendocrine Tumors Team, Inserm U1016, Cnrs Umr8104, Paris, France; 2Institut Cochin, Faculté de Médecine, 24 Rue du Faubourg Saint Jacques, Paris, France; 3Institut Cochin, Genomic and Signaling Pathway of Neuroendocrine Tumors, Paris, France; 4Inserm U1016, Institut Cochin, Cnrs Umr8104, Endocrinology Metabolism Diabetes Department, Paris, France; 5Institut Cochin, Paris, France; 6Hospital Cochin, Endocrinology, Cochin Institute, Inserm U1016, Paris, France.
Introduction: Bilateral macronodular adrenal disease (BMAD, former PBMAH) is a rare cause of Cushing’s syndrome. The few morphologic descriptions of BMAD mention multinodular hyperplastic adrenal glands composed of clear spongiocytic cells and fewer compact eosinophilic cells without any morphologic variation. The discovery of ARMC5 and KDM1A mutations argues for genetic heterogeneity. The aim of this work was to describe the morphological and immunohistochemical characteristics of a series of BMAD in order to search for heterogeneity and to correlate the results with the genetic profile.
Methods: 35 PBMAH patients operated at the Cochin Hospital between 1998 and 2021 whose genetic status was known were reviewed. Immunohistochemistry was performed on DAB2, HSD3B1, HSD3B2, Cyp11B1, Cyp11B2, Cyp17A1, inhibin and KDM1A.
Results: Four morphological subtypes are identified: two with round fibrous septa within macronodules: subtype 1 has a majority of spongiocytic cells and 10–30% of compact eosinophilic cells and subtype 2 has more compact eosinophilic cells (>30%) Two subtypes have sparse fibrous trabeculae within macronodules: subtype 3 has a majority of clear spongiocytic cells and less than 10% compact eosinophilic cells and subtype 4 has many oncocytic cells (>40%). Their immunohistochemical profile is different. Subtype 1 correlated with ARMC5 mutations and subtype 2 with KDM1A mutations (P<0.0001). Diffuse HSD3B2 expression on clear spongiocytic cells correlated with ARMC5 mutations (P<0.0001).
Conclusion: The study of this series suggests four morphological groups. Two of these subtypes are correlated with the presence of germline mutations. This model highlights the heterogeneity of the pathological characteristics of BMAD as well as their link with the genetic characteristics.
Volume 93
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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