Thymomas are rare tumours which generally account for only 0.2 – 1.5% of mediastinal tumours in adults. Around 40% of patients present with systemic symptoms such as motor weakness due to myasthenia gravis (MG), pure red cell aplasia, and hypogammaglobulinemia. Based on recent guidelines, management of advanced thymoma uses a multimodal approach, which is thymectomy followed by radiotherapy, but not all health care centers have radiotherapy facilities. A 52-year-old woman presented with nasal voice and had difficulty swallowing food. Patient was diagnosed with myasthenia gravis (MG). CT scan with contrast of the thorax showed a heterogenous solid mass in anterior mediastinum. Histopathological examination showed thymoma type B2. Thymectomy followed by seven cycles of platinum-based chemotherapy were done on the patient. Evaluation afterward showed complete remission of thymoma. The patient’s motor weakness improved after the chemotherapy. Post-chemotherapy period was uneventful at six months on follow-up visit. The dosage of acetylcholinesterase inhibitor drug is reduced periodically due to improvement in motor weakness. The case emphasizes how to manage an advanced thymoma with MG with limited therapeutic options, and the importance of multidisciplinary management involving oncologists, surgeons, and neurologists.
Thymoma ; Myasthenia Gravis ; Drug Therapy ; Thymectomy

Humans ; Thymoma/surgery* ; Thyroid Neoplasms ; Thymus Neoplasms/surgery* ; Neoplasms, Glandular and Epithelial

Humans ; Incidence ; Longitudinal Studies ; China/epidemiology* ; Thymus Neoplasms

BACKGROUND: Thymic carcinomas (TCs) and thymic neuroendocrine neoplasms (TNENs) are two aggressive subtypes of thymic malignancy. Traditional therapy for advanced TCs and TNENs has limited outcome. New genomic profiling of TCs and TNENs might provide insights that contribute to the development of new treatment approaches. METHODS: We used gene panel sequencing technologies to investigate the genetic aberrations of 32 TC patients and 15 TNEN patients who underwent surgery at Shanghai Chest Hospital between 2015 and 2017. Patient samples were sequenced using a 324-gene platform with licensed technologies. In this study, we focused on clinically relevant genomic alterations (CRGAs), which are previously proven to be pathogenic alterations, to identify the pathology-specific mutational patterns, prognostic signatures of TCs and TNENs. RESULTS: The mutational profiles between TCs and TNENs were diverse. The genetic alterations that ranked highest in TCs were in CDKN2A, TP53, ASXL1, CDKN2B, PIK3C2G, PTCH1, and ROS1 , while those in TNENs were in MEN1, MLL2, APC, RB1 , and TSC2 . Prognostic analysis showed that mutations of ROS1, CDKN2A, CDKN2B, BRAF, and BAP1 were significantly associated with worse outcomes in TC patients, and that mutation of ERBB2 indicated shortened disease-free survival (DFS) and overall survival (OS) in TNEN patients. Further investigation found that the prognosis-related genes were focused on signal pathways of cell cycle control, chromatin remodeling/DNA methylation, phosphoinositide 3-kinases (PI3K)/protein kinase B (AKT)/mammalian target of rapamycin (mTOR), and receptor tyrosine kinase (RTK)/RAS/mitogen-activated protein kinase (MAPK) signaling. CONCLUSION We profiled the mutational features of 47 Chinese patients with thymic malignancy of diverse pathologic phenotypes to uncover the integrated genomic landscape of these rare tumors, and identified the pathology-specific mutational patterns, prognostic signatures, and potential therapeutic targets for TCs and TNENs.
Humans ; Thymoma ; Protein-Tyrosine Kinases/genetics* ; Proto-Oncogene Proteins/genetics* ; China ; Thymus Neoplasms/pathology* ; Prognosis ; Neuroendocrine Tumors/pathology* ; Mutation/genetics*

Humans ; Thymoma/pathology* ; Thymus Neoplasms/pathology*

Objective: To investigate the clinicopathological features, and molecular genetic alterations of metaplastic thymoma (MT). Methods: A total of ten MT cases, diagnosed from 2011 to 2021, were selected from the Department of Pathology of Jinling Hospital, Nanjing University Medical School, Nanjing, China for clinicopathological and immunohistochemical (IHC) examination and clinical follow-up. Fluorescence in situ hybridization (FISH), next-generation sequencing (NGS), and YAP1 C-terminus (YAP1-CT) IHC were performed to detect YAP1::MAML2 fusions. Results: There were four males and six females, ranging in age from 29 to 60 years (mean 50 years, median 54 years). Microscopically, all tumors showed a typical biphasic morphology consisting of epithelial components and gradually or abruptly transitioning spindle cell components. The two components were present in varying proportions in different cases. Immunophenotypically, the epithelial cells were diffusely positive for CKpan, CK5/6 and p63. The spindle cells were diffusely positive for vimentin and focally positive for EMA. TdT was negative in the background lymphocytes. Ki-67 proliferation index was less than 5%. YAP1 and MAML2 break-apart FISH analyses showed that all ten cases had narrow split signals with a distance of nearly 2 signal diameters and may be considered false-negative. Using YAP1::MAML2 fusion FISH assays, abnormal fusion signals were observed in all the ten cases. NGS demonstrated YAP1::MAML2 fusions in all eight cases with adequate nucleic acids; in two cases the fusions were detected by DNA sequencing and in eight cases by RNA sequencing. All ten cases of MT demonstrated loss of YAP1 C-terminal expression in epithelioid cells. Conclusions: MT is a rare and low-grade thymic tumor characterized by a biphasic pattern and YAP1::MAML2 fusions. Break-apart FISH assays may sometimes show false-negative results due to the proximity of YAP1 and MAML2, while YAP1 C-terminal IHC is a highly sensitive and specific marker for MT. Loss of YAP1 C-terminal expression can also be used to screen YAP1::MAML2 fusions for possible MT cases.
Male ; Female ; Humans ; Adult ; Middle Aged ; Thymoma/genetics* ; In Situ Hybridization, Fluorescence ; Transcription Factors/genetics* ; Mutation ; Thymus Neoplasms/genetics*

BACKGROUND: In recent years, with the advancement of minimally invasive techniques, thoracoscopic thymoma resection has experienced a development process from three-port video-assisted thoracic surgery (VATS) to two-port (TP) and single-port (SP) variants. However, the feasibility and safety of SP-VATS have not been generally recognized. This study intends to explore the safety and feasibility of SP-VATS in thymoma resection, in order to provide a reference for clinical surgicalselection. METHODS: The clinical data of 197 patients who underwent thoracoscopic thymoma resection in Beijing Tongren Hospital from January 2018 to September 2021 were retrospectively analyzed. The patients were divided into SP-VATS group (n=42) and TP-VATS group (n=155). After matching propensity scores, there is no statistically significant difference in preoperative baseline data between SP-VATS group and TP-VATS group. Among them, there were 17 males and 25 females with an average age of 28-72 (48.00±9.43) years in the SP-VATS group, and 20 males and 22 females with an average age of 30-75 (50.38±9.83) years in TP-VATS group. The clinical effects of the two groups were compared. RESULTS: The operation was successfully completed in both groups, and there was no conversion to thoracotomy or increased surgical incisions. Compared with the TP-VATS group, the chest drainage time and hospital stay in the SP-VATS group were shorter [(2.95±0.76) d vs (3.33±0.85) d; (4.57±0.83) d vs (5.07±1.13) d], and the visual pain score at 24 h and 72 h after surgery were lower [(3.64±0.85) points vs (4.05±0.66) points; (2.33±0.75) points vs (3.07±0.68) points] (P<0.05). There was no statistically significant difference between the two groups in operation time [(130.00±26.23) min vs (135.24±27.03) min], intraoperative blood loss [(69.52±22.73) mL vs (82.38±49.23) mL] (P>0.05). CONCLUSIONS SP-VATS in thymoma is a safe, feasible, and less invasive procedure, with less postoperative pain and faster recovery than multi-port VATS.
Adult ; Aged ; Female ; Humans ; Lung Neoplasms/surgery* ; Male ; Middle Aged ; Retrospective Studies ; Thoracic Surgery, Video-Assisted/methods* ; Thymoma/surgery* ; Thymus Neoplasms/surgery*

Heart Neoplasms/genetics* ; Hemangiosarcoma/genetics* ; Humans ; Mediastinal Neoplasms ; Thymus Neoplasms

A patient with thymoma associated immunodeficiency syndrome (Good's syndrome) and bronchiectasis was retrospectively analyzed. Good's syndrome is a rare condition of immunodeficiency that is characterized by thymoma and hypogammaglobulinemia. It is important to bear in mind that Good's syndrome should be included in the differential diagnosis When patients repeatedly visited for bronchiectasis or infection, we should alert to their immune state and history of thymoma. Early screening of immunological status and aggressive correction of immune deficiency are beneficial to improving the prognosis to patients with Good's syndrome.
Agammaglobulinemia/complications* ; Bronchiectasis/complications* ; Humans ; Retrospective Studies ; Thymoma/complications* ; Thymus Neoplasms/complications*

Humans ; Neoplasms, Glandular and Epithelial ; Thymoma ; Thymus Neoplasms ; Thyroid Neoplasms