A primary thymic adenocarcinoma with two components that traced distinct evolutionary trajectories.

Even though it is a rare subtype, identifying the genetic features of thymic adenocarcinoma is valuable for a multifaceted understanding of thymic epithelial tumors. We experienced a female patient with thymic adenocarcinoma associated with thymic cysts. The tumor consisted of a solid whitish lesion (lesion-1) and a large cystic lesion with small papillary nodules (lesion-2). Microscopically, lesion-1 exhibited poorly differentiated adenocarcinoma accompanying numerous inflammatory cell infiltrates, and lesion-2 (the nodules within the cystic lesion) exhibited enteric-type adenocarcinoma. Consistent with the histological difference, whole-exome sequencing revealed that these two components exhibited distinct genetic features, except for only a few shared mutations, including CDKN2A truncation. Lesion-1 exhibited microsatellite instability-high signature with high mutation burden, for which immune checkpoint inhibitors might apply; and lesion-2 exhibited whole-genome doubling with KRAS hotspot mutation. Our case presents novel genetic features of thymic adenocarcinoma and demonstrates that distinct mutational processes can be operative within a single tumor.

[Non-neoplastic lesions of the mediastinum]. / Nichtneoplastische Läsionen des Mediastinums.

The mediastinum is a complex body region of limited space but containing numerous organs of different embryonic origins. A variety of lesions that are difficult to distinguish from each other can occur here. Non-neoplastic lesions of the mediastinum represent important differential diagnostic pitfalls to mediastinal tumors, clinically, radiologically and histopathologically. It is important to bear these lesions in mind and to adequately verify or exclude them before starting further differential diagnostic considerations on mediastinal neoplasms. The most common non-neoplastic lesions in this region include cysts and lymphadenopathies. Mediastinal cysts result from abnormal events in the branching of the tracheobronchial tree, the pharyngeal pouches, the primary intestines, the pleuropericardial membranes and the brain meninges or are complications of inflammatory and hydrostatic processes. The histogenesis of the lining epithelium and the cyst wall structure are decisive for the exact classification. The histopathologically most prevalent patterns of mediastinal lymphadenopathies are those accompanied by increased histiocytes and Castleman's disease. Sclerosis is a non-specific reaction pattern of the mediastinum and can be associated with many processes; therefore, when establishing the diagnosis of sclerosing mediastinitis, several differential diagnoses have to be excluded. Simple thymic hyperplasia can be accompanied by considerable increase in organ size with severe local symptoms, while follicular thymic hyperplasia is often associated with myasthenia gravis and represents the most common findings in non-thymoma thymectomy specimens.

Thymic cyst: Is attenuation artifactually increased on contrast-enhanced CT?

Background: Thymic cysts are often misinterpreted as thymomas or lymph nodes, then leading to unnecessary thymectomy. The purpose of this study was to investigate how the adjacent large vessels artifactually affected attenuation values of thymic cysts on contrast-enhanced CT (CE-CT). Methods: In this retrospective study, a total of 84 patients were included with pathological diagnosis of thymic cysts and preoperative CE-CT. Quantitative measurements of the size, CT attenuation of thymic cysts and CT attenuation of adjacent large vessels were performed on preoperative CE-CT. According to the absolute change in attenuation of the cysts between contrast-enhanced and nonenhanced CT, the patients were classified into the groups of artifactual hyper-density, unchanged density, and artifactual hypo-density. CT characteristics were compared between the three groups. Furthermore, multivariable logistic regression analysis was performed to determine the independent factors for artifactual hyper-density. Results: The group of artifactual hyper-density had smaller short diameter of the cysts, higher postcontrast attenuation values and lower nonenhanced attenuation values of the adjacent large vessel. Furthermore, the multivariable logistic analysis showed that artifactual hyper-density of thymic cysts was negatively associated with nonenhanced attenuation of adjacent large vessel, and positively associated with postcontrast attenuation of adjacent large vessel and postcontrast attenuation of cysts. Conclusions: Most cases with >20 HU nonenhanced CT attenuation in surgically resected cases. Artifactual hyper-density─pseudo-enhancement phenomenon of thymic cysts was more apparent in higher increasing attenuation of adjacent large vessels on CE-CT. A well understanding of this phenomenon can help reduce preoperative misdiagnosis and unnecessary thymectomy.