Mediastinum (Hong Kong, China)最新文献

Background and objective: Thymic neuroendocrine tumors (tNETs) are rare and heterogeneous neoplasms with limited evidence to guide diagnosis and management. Traditional classifications rely heavily on morphology, but recent advances in molecular profiling have begun to reshape understanding of their biology and clinical behavior. This narrative review synthesizes recent molecular findings in tNETs and proposes an integrated framework that combines traditional morphology with molecular stratification to guide precision oncology.

Methods: We performed a narrative review of the current literature on tNETs, focusing on histologic classification, molecular taxonomy, diagnostic algorithms, and therapeutic strategies. Special emphasis was placed on integrating emerging evidence from genomic, epigenetic, and clinical studies published between 2010 and 2025.

Key content and findings: Molecular frameworks such as copy number instability (CNI)-based classification, together with recurrent alterations in MEN1, TP53, and RB1, are refining risk stratification and linking tNETs to neuroendocrine neoplasms in other organ systems. Therapeutic advances include the use of everolimus and temozolomide, while PRRT appears less effective in this subgroup. Epigenetic dysregulation and novel trial designs, including basket and adaptive studies, represent promising avenues for future research.

Conclusions: This review integrates current knowledge of tNETs with recent advances in molecular diagnostics and therapeutic strategies. By highlighting key genetic and epigenetic alterations, as well as future directions such as liquid biopsy, artificial intelligence, and novel trial designs, we emphasize the need for biomarker-driven approaches to improve outcomes in this ultra-rare disease.

Background: Outpatient follow-up using computed tomography (CT) after thymoma resection is recommended to evaluate tumor recurrence and detect second malignancies. However, the optimal interval for CT surveillance remains unclear. We aimed to investigate the association between CT surveillance intervals and postoperative survival after thymoma resection.

Methods: This retrospective study analyzed 143 patients who underwent periodic CT scans after complete thymoma resection at a single institution between 2006 and 2022. Patients were stratified into three groups based on CT interval: half-, 1-, and 2-year groups. CT intervals were stratified according to the attending physician's clinical judgment. Overall survival (OS), recurrence-free survival (RFS), tumor recurrence rates, and post-recurrence treatments were compared among the three interval groups. A multivariate analysis was performed to evaluate the independent prognostic impact of CT intervals.

Results: Among the 143 patients included, 82 were assigned to the half-year group, 33 to the 1-year group, and 28 to the 2-year group. The 7-year OS rates were 96.1% in the half-year group, 100% in the 1-year group, and 100% in the 2-year group (P=0.34). The 7-year RFS rates were 85.2%, 92.3%, and 88.1% in the half-, 1-, and 2-year groups, respectively (P=0.37). No significant differences were found in overall and RFS among the three groups. Tumor recurrence rates were 11.0% in the half-year group, 3.0% in the 1-year group, and 7.1% in the 2-year group (P=0.38). No significant differences were noted in recurrence detection modalities and treatment approaches among the three groups (P>0.99, 0.99). In the multivariate analysis, CT follow-up interval was not significantly associated with OS.

Conclusions: Postoperative CT follow-up at intervals longer than 1 year may be acceptable and feasible for patients after thymoma resection.

Background: Thymomas are thymic epithelial tumors (TETs) and the most common tumors of the anterior mediastinum. In the natural course of this malignancy, there is no tendency towards extrathoracic metastasis. This report describes an extremely rare case of splenic metastatic disease from a thymoma. Additionally, the patient developed Good's syndrome, a thymoma-associated immunological disorder which makes the patient vulnerable for opportunistic infections. This syndrome is generally treated with intravenous immunoglobulins.

Case description: The patient is an asymptomatic 73-year-old man of Caucasian origin without significant past medical history. He was diagnosed with an anterior mediastinal mass on computed tomography (CT) of the chest in the work-up of his newly diagnosed prostate carcinoma, which turned out to be a thymoma after surgical resection. During follow-up the patient developed a splenic lesion which was difficult to characterize. After laparoscopic splenectomy the diagnosis of metastatic thymoma was confirmed. Additionally, the patient developed Good's syndrome. Unfortunately, the patient died of associated infectious complications after thorough intensive care treatment.

Conclusions: Metastatic splenic disease from a thymoma, further complicated by development of Good's syndrome is extremely rare and hitherto never described before. To anticipate possible infectious complications in patients with newly diagnosed thymoma, we advise to routinely check immunoglobulin levels in these patients.

Background: Although some evidence shows an increase in its incidence, epithelial thymic tumors that comprise thymomas, thymic neuroendocrine tumors and thymic carcinomas, are rare (ranging from 2.5-2.8 per million). Thymomas, as presented in this paper, although slow growing lesions are malignant tumors, as the potential to invade surrounding structures and metastasize has been proven. In this case report, we present another feature of these neoplasms, recurrence. Although local and regional are far more frequent, distant can also occur. We present a case of late extra-thoracic recurrence associated with seeding from a preoperative biopsy, a very rare, but real scenario, that needs to be taken into account when deciding the need for invasive staging.

Case description: We present a case of a 75-year-old woman who was sent for evaluation of painful palpable extra-thoracic nodules, 8 years after a type A thymoma excision. After image reconstruction, surgical exploration and detailed clinical history and record examination, it was considered as recurrence associated with seeding from preoperative biopsy. She had been followed with regular computed thoracic tomography imaging, with no signs of recurrence during the 5-year period, at the moment of oncological follow-up discharge.

Conclusions: This case is a statement for the changes that have been made in diagnosis, treatment and follow-up of epithelial thymic tumors in the last years. Nowadays, the biopsy is not proposed when a resectable epithelial tumor of the mediastinum is the probable diagnosis, as the case presented. We believe that a longer follow-up for these patients is needed as they can recur later than the initially considered 5-year period, and the absence of surgical excision of the biopsy tract or in the presence of a complex biopsy (involving, for example, pleural puncture), should possibly be considered a pseudo-R0.

Background and objective: Thymic carcinoma is a type of thymic epithelial tumor that is rare and aggressive. Compared to patients with thymoma, patients with thymic carcinoma experience worse overall survival, progression-free survival and earlier relapses. Patients with stage IV thymic carcinoma most commonly have disease involving the pleural or pericardium, but distant spread outside the thorax is also possible. The purpose of this review is to describe radiation therapy strategies and options for patients with stage IV thymic carcinoma.

Methods: Due to the rare nature of thymic tumors, the literature on stage IV thymic carcinoma is limited. As a result, most of the data on stage IV thymic carcinoma is based on retrospective reviews and heterogenous populations.

Key content and findings: The management of stage IV thymic carcinoma is multidisciplinary and depends on many factors including the patient's performance status, extent of disease, biology of the disease and intent of treatment. Systemic therapy, surgical resection, observation, and radiation therapy are often considered. Radiation can be used for palliation of symptoms, prevention of impending symptoms, and potentially for prolongation of disease control particularly in patients with oligometastatic or oligoprogressive disease. The type of radiation used in patients with stage IV thymic carcinoma depends on the intent of treatment, location of the disease, size of the target, and proximity to organs that are sensitive to radiation. Various techniques such as 3D conformal radiation therapy (3DCRT), stereotactic body radiation therapy (SBRT), intensity modulated radiation therapy (IMRT), proton beam therapy, and hemi-thoracic intensity-modulated pleural radiation therapy (IMPRINT) may be considered depending on these factors.

Conclusions: In patients with stage IV thymic carcinoma, radiation therapy is an effective modality for palliation of symptoms, prevention of impending symptoms, and potentially for prolongation of disease control. Due to the rare nature of the disease, additional data and research are required to better understand the impact and appropriateness of various treatment approaches in patients with thymic carcinoma. Because the management of stage IV thymic carcinoma can involve multiple different modalities depending on the patient's individual case, a multidisciplinary approach is critical for optimal patient care.

Thymic epithelial tumors (TETs) are rare cancers that arise from cortical or medullary thymic epithelial cells and are associated with unique clinical, genomic and immunological features that include a poorly understood predisposition towards autoimmunity. The risk for autoimmune disease can be traced back to the physiological role of the thymus in T cell development. Recent studies have revealed key differences in the immune cell composition and tumor immune microenvironment of thymomas and thymic carcinomas (TCs). Thymomas contain a greater proportion of immature double positive T cells whereas TCs have larger numbers of differentiated single positive T cells. The proportion of B cells, dendritic cells, macrophages and regulatory T cells vary depending on TET histology. Thymomas exhibit higher immune cell infiltration whereas TCs are characterized by a pronounced stromal signature. Histology-based differences in T cell receptor diversity and in the cytokine profile of the tumor microenvironment have also been described. Programmed cell death-ligand 1 expression is variable in TETs and confounded by physiological expression in the normal thymus. Knowledge of the immune cell composition and the tumor immune microenvironment of TETs is essential to understand the risks of paraneoplastic autoimmunity and treatment-related toxicity in the era of immunotherapy. This review synthesizes recent advances in thymic biology and tumor immunology to frame the immune landscape of TETs.

Background and objective: Patients with thymomas often develop autoimmune neuromuscular diseases, including myasthenia gravis (MG). Autoantigen expression in thymomas plays an important role in disease pathogenesis. Since thymomas are mainly composed of the cortex, with few medullae, MG may be caused by immature thymoma-derived T cells that fail to undergo negative selection and have not yet acquired sufficient self-tolerance. However, due to the complexity and diversity of thymoma cell populations, a comprehensive understanding of the mechanisms underlying its association with MG has yet to be achieved. The purpose of this article is to provide an overview of the normal thymus function and the pathogenesis of thymoma associated with MG and other autoimmune diseases, with the aim to highlight newly identified mechanisms that may offer novel insights into their development.

Methods: To address the lack of information regarding the MG-thymoma association, we applied a bioinformatics approach to thymomas.

Key content and findings: By analyzing bulk RNA-sequencing (RNA-seq) and single-cell RNA-seq (scRNA-seq) data from thymomas, we identified neuromuscular medullary thymic epithelial cells (nmTECs) as neuromuscular antigen-expressing cell populations. Medullary structures, although much smaller than those of the normal thymus, are present in thymomas with MG and MG-susceptible genes are clustered. We observed spatial nmTEC colocalization and an immune niche, inferring an interaction and suggesting a pathological role of nmTECs in MG.

Conclusions: After providing an up-to-date overview of normal thymus function, along with data and hypotheses regarding the association between thymoma and MG, we present bioinformatic findings regarding the thymoma.

Background: Large sized anterior mediastinal masses can be a challenge in thoracic surgery due to the anesthesiological risks. The management of these tumors requires a surgical biopsy to get sufficient tissue for histopathological and immunohistochemical analysis, which are essential for a precise diagnosis and target treatment.

Case description: We report the case of a 45-year-old woman with a persistent cough and fatigue lasting 2 months. A chest computed tomography (CT) scan revealed a large anterior mediastinal mass. An initial biopsy diagnosed this patient with myeloid sarcoma. However, a further biopsy of fresh tissue was necessary to characterize the tumor to initiate targeted treatment. To avoid complete airway obstruction and cardiovascular collapse due the compression of the anterior mediastinal mass during general anesthesia, we performed a Chamberlain procedure on an awake patient using hypnosis and local anesthesia.

Conclusions: Anterior mediastinotomy according to Chamberlain approach allowed the retrieval of sufficient fresh tissue for an accurate immunohistochemical diagnosis, while avoiding more invasive and traumatic surgical approaches such as sternotomy. This approach is particularly valuable in high-risk patients where general anesthesia could exacerbate airway or cardiovascular collapse. In this context the procedure was successfully performed under local anesthesia and hypnosis in selected patients to avoid anesthesiological risks due the compression that anterior mediastinal mass can exert.

Background: Thymic epithelial tumors (TETs) are rare, but they are the most common tumors in the anterior mediastinum. The use of artificial intelligence (AI) in the medical field is rapidly advancing. Especially in a rare disease such as TET, AI can help to improve existing care and foster new innovations. However, there are many different AI models with various implications. This systematic review aims to give an overview of recent studies on AI applications for the diagnosis and prognosis of TETs.

Methods: In this systematic review, six electronic databases were searched for research papers with the keywords "thymoma", "thymic epithelial tumors", "thymic carcinoma", "artificial intelligence", "machine learning" and "deep learning". The screening was performed by two reviewers and conflicts were resolved by a third reviewer.

Results: After removal of duplicates, 582 articles were included. Of these, 65 articles were eligible for inclusion after screening. AI models are used mainly for distinguishing between different mediastinal tumor types (n=21), risk stratification (n=26), surgical planning (n=7) and for assisting in subtyping (n=4). For prognostic purposes, AI is used for predicting clinical outcome as well as the chance of metastasis or prognosis (n=7). Models using combined clinical and radiomics data performed better than models with a single type of data. Some of the AI models outperformed physicians or successfully supported physicians in their workflow.

Conclusions: Many AI models have been studied in the context of the diagnosis and prognosis of TETs. Even though results are promising, external validation is often lacking, and sample sizes are small. Therefore, most models are not yet ready for clinical implementation. Further research on AI models with larger datasets and external validation is necessary, with careful consideration of the risk of data leakage.

Background: Venous reconstruction is required in patients with superior vena cava (SVC) resection to maintain sufficient blood flow to avoid severe complications such as cerebral edema. However, venous reconstruction might not be needed in selected patients with well-established collateral circulations under internal jugular vein pressure (IJVP) monitoring.

Case description: In November 2020, a 57-year-old female patient presented with an anterior mediastinal mass after B2 thymoma resection for 8 years. A core needle biopsy suggested recurrence of B2 thymoma. The patient received sequential chemoradiotherapy (SCRT) and had a partial response. She underwent median sternotomy in April 2021. A collateral vessel from left innominate vein was found to descend along the left side of aortic arch. IJVP was 29 cmH₂O after clamping the SVC. The tumor and invaded structures were removed without SVC reconstruction and the azygos vein was reserved. The patient was discharged 8 days after surgery without obstructive symptoms. No tumor recurrence was found after a 44-month follow-up and abundant collateral circulations were found in postoperative imaging. In July 2022, a 56-year-old female patient with B2 thymoma was treated with concurrent chemoradiotherapy and additional 3-cycle chemotherapy before presenting to our hospital. The tumor invaded the SVC and the azygos vein, and there was tumor embolism inside the SVC. Thrombectomy in the SVC was attempted but was unsuccessful. But the IJVP was 25 cmH₂O after clamping the SVC and the azygos vein. Then the SVC, bilateral innominate veins, and azygos vein were resected without venous reconstruction. The patient was discharged 12 days after surgery without severe graft-related complications. After a 31-month follow-up, collateral circulations were more abundant and there was no recurrence of tumor.

Conclusions: To our knowledge, this is the first successful attempt of SVC resection alone without venous reconstruction and we reported long-term results. SVC resection alone under the safe threshold of IJVP was feasible and safe in selected patients with abundant collateral circulations. Patients could benefit from less surgical trauma and be spared of anticoagulants after surgery.