Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome

Lérias S, Cabrera R, Branquinho-Ruivo L, Saramago A, Stöhr R, Agaimy A, Martins C (2025)

Publication Type: Journal article

Publication year: 2025

Journal

Virchows Archiv Springer Verlag (Germany)

DOI: 10.1007/s00428-025-04085-7

Abstract

Neuroblastoma (NB) is extremely rare in adults, and anterior mediastinal location is even more unusual. We report a primary thymic NB in a 72-year-old male, who presented with the inappropriate antidiuretic hormone secretion (SIADH) syndrome. Molecular testing revealed copy number alterations of chromosome 3, i.e., loss of whole 3p and partial gain of distal 3q, including gain of copies of the PIK3CA gene. To the best of our knowledge, only five mediastinal NB cases in adults have been reported with genetic evaluation. One case showed loss of 3p material with SETD2 gene mutation and gain of PIK3CA gene, similar to our case. As thymic NB is extremely rare, report of more genetically characterized cases should help to delineate their pathobiology and shed light on possible mechanisms involved in the associated SIADH syndrome.

Authors with CRIS profile

Robert Stöhr Lehrstuhl für Allgemeine Pathologie und Pathologische Anatomie Abbas Agaimy Institute of Pathology

Involved external institutions

Champalimaud Foundation / Fundação Champalimaud PT Portugal (PT) University of Lisbon / Universidade de Lisboa (ULisboa) PT Portugal (PT) Escola Superior de Tecnologia da Saúde de Lisboa (ESTeSL) PT Portugal (PT) Instituto Português de Oncologia Francisco Gentil (IPO) / Portuguese Oncology Institute PT Portugal (PT)

How to cite

APA:

Lérias, S., Cabrera, R., Branquinho-Ruivo, L., Saramago, A., Stöhr, R., Agaimy, A., & Martins, C. (2025). Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome. Virchows Archiv. https://doi.org/10.1007/s00428-025-04085-7

MLA:

Lérias, Sofia, et al. "Molecular characterization of a thymic neuroblastoma in an adult associated with inappropriate antidiuretic hormone secretion syndrome." Virchows Archiv (2025).

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