Lérias Sofia, Cabrera Rafael, Branquinho-Ruivo Leonor, Saramago Ana, Stoehr Robert, Agaimy Abbas, Martins Carmo
Department of Pathology, Champalimaud Centre for the Unknown, Lisboa, Portugal.
Faculdade de Medicina, Instituto de Anatomia Patológica, Universidade de Lisboa, Lisboa, Portugal.
Virchows Arch. 2025 Apr 1. doi: 10.1007/s00428-025-04085-7.
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.
神经母细胞瘤（NB）在成人中极为罕见，而位于前纵隔的情况则更为少见。我们报告了一例72岁男性的原发性胸腺NB，该患者表现为抗利尿激素分泌异常（SIADH）综合征。分子检测显示3号染色体的拷贝数改变，即整个3p缺失和3q远端部分增益，包括PIK3CA基因拷贝数增加。据我们所知，仅有5例成人纵隔NB病例进行了基因评估报道。其中1例显示3p物质缺失伴SETD2基因突变及PIK3CA基因增益，与我们的病例相似。由于胸腺NB极为罕见，更多具有基因特征病例的报告应有助于阐明其病理生物学，并揭示与相关SIADH综合征可能涉及的机制。
