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Acta Haematologica 2022The co-occurrence of thymoma and T-lymphoblastic lymphoma/leukemia is an extremely rare but previously reported association that poses a diagnostic and therapeutic... (Review)
Review
The co-occurrence of thymoma and T-lymphoblastic lymphoma/leukemia is an extremely rare but previously reported association that poses a diagnostic and therapeutic challenge. We describe a 67-year-old patient with long-standing untreated B1 thymoma that presented with constitutional symptoms and a painless soft tissue mass on the right chest wall. Pathological analysis of the biopsy from the mass demonstrated T-lymphoblastic leukemia/lymphoma. The patient went through a complicated course, was refractory to several lines of therapy, and eventually underwent allogeneic hematopoietic stem cell transplantation in complete remission from a matched related donor. The association between thymoma and malignant neoplasms has been described in the literature, most notably with colorectal adenocarcinoma and thyroid cancer. Thymoma-associated leukemia is, however, extremely unusual, with limited reports in the literature. Distinguishing between thymoma and leukemia can be challenging and often requires meticulous diagnostic efforts. For patients with a past history of thymoma, awareness of this particular association should be bared in mind to allow earlier diagnosis and therapy.
Topics: Aged; Allografts; Biopsy; Hematopoietic Stem Cell Transplantation; Humans; Male; Neoplasms, Second Primary; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma; Thymoma; Thymus Neoplasms
PubMed: 34537764
DOI: 10.1159/000519033 -
Journal of Thoracic Oncology : Official... Dec 2022The pathogenesis of thymic epithelial tumors remains largely unknown. We previously identified GTF2I L424H as the most frequently recurrent mutation in thymic epithelial...
INTRODUCTION
The pathogenesis of thymic epithelial tumors remains largely unknown. We previously identified GTF2I L424H as the most frequently recurrent mutation in thymic epithelial tumors. Nevertheless, the precise role of this mutation in tumorigenesis of thymic epithelial cells is unclear.
METHODS
To investigate the role of GTF2I L424H mutation in thymic epithelial cells in vivo, we generated and characterized a mouse model in which the Gtf2i L424H mutation was conditionally knocked-in in the Foxn1+ thymic epithelial cells. Digital spatial profiling was performed on thymomas and normal thymic tissues with GeoMx-mouse whole transcriptome atlas. Immunohistochemistry staining was performed using both mouse tissues and human thymic epithelial tumors.
RESULTS
We observed that the Gtf2i mutation impairs development of the thymic medulla and maturation of medullary thymic epithelial cells in young mice and causes tumor formation in the thymus of aged mice. Cell cycle-related pathways, such as E2F targets and MYC targets, are enriched in the tumor epithelial cells. Results of gene set variation assay analysis revealed that gene signatures of cortical thymic epithelial cells and thymic epithelial progenitor cells are also enriched in the thymomas of the knock-in mice, which mirrors the human counterparts in The Cancer Genome Atlas database. Immunohistochemistry results revealed similar expression pattern of epithelial cell markers between mouse and human thymomas.
CONCLUSIONS
We have developed and characterized a novel thymoma mouse model. This study improves knowledge of the molecular drivers in thymic epithelial cells and provides a tool for further study of the biology of thymic epithelial tumors and for development of novel therapies.
Topics: Animals; Humans; Mice; Mutation; Neoplasms, Glandular and Epithelial; Thymoma; Thymus Neoplasms; Transcription Factors, TFII; Transcription Factors, TFIII
PubMed: 36049655
DOI: 10.1016/j.jtho.2022.08.008 -
CNS Neuroscience & Therapeutics May 2023Autoimmune encephalitis (AE) is a heterogeneous group of inflammatory central nervous system disorders caused by a misdirected immune response against self-antigens... (Review)
Review
INTRODUCTION
Autoimmune encephalitis (AE) is a heterogeneous group of inflammatory central nervous system disorders caused by a misdirected immune response against self-antigens expressed in the central nervous system. The thymus is a central organ in the immune system and thymic tumors are thought to be possible initiators of many neurological disorders. Recently, there is growing evidence that thymomas are associated with autoimmune encephalitis.
AIMS
Our study initially explored the characteristics of patients with autoimmune encephalitis combined with thymoma.
METHODS
We used patient data from January 1, 2011 to October 1, 2021 from the PubMed, Web of Science, Ovid, and CNKI platforms to analyze overall demographics, frequency of symptoms and associations, and treatment prognosis outcomes.
RESULTS
A total of 68 patients were included. There were 39 female cases (57.4%). The mean age was 50 years (IQR 40-66 years). All had acute and subacute onset. The clinical manifestations were mostly cognitive changes (70.6%), mental disorders (57.4%), and epilepsy (50.0%). The most common neuronal antibody was alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA). Magnetic resonance imaging (MRI) abnormalities were present in 81.0% of patients, mostly in the hippocampus, temporal lobe, and some in cortical and subcortical areas. Abnormalities in the electroencephalogram (EEG) in 69.8% of patients. Treatment involved immunotherapy and thymoma treatment, with 79.7% of patients improving after treatment. While 20.3% of patients had a poor prognosis. Further, 14.8% of patients relapsed. Mental disorders, autonomic dysfunction, sleep disturbances, anti-Ma2, and thymoma untreated were more frequent in patients with poor prognosis.
CONCLUSION
Thymoma-associated autoimmune encephalitis is a unique disease entity. Long-term follow-up of chest CT findings is recommended for patients with autoimmune encephalitis.
Topics: Humans; Female; Middle Aged; Thymoma; Thymus Neoplasms; Prognosis; Autoimmune Diseases of the Nervous System; Autoantibodies
PubMed: 36914970
DOI: 10.1111/cns.14166 -
Frontiers in Immunology 2022Thymic Epithelial Tumors (TETs) arise from epithelial cells of the thymus and are very rare neoplasms comprising Thymoma, Thymic carcinoma, and Thymic Neuroendocrine... (Review)
Review
Thymic Epithelial Tumors (TETs) arise from epithelial cells of the thymus and are very rare neoplasms comprising Thymoma, Thymic carcinoma, and Thymic Neuroendocrine tumors that still require in-depth molecular characterization. Long non-coding RNAs (lncRNAs) are emerging as relevant gene expression modulators involved in the deregulation of several networks in almost all types of human cancer, including TETs. LncRNAs act at different control levels in the regulation of gene expression, from transcription to translation, and modulate several pathways relevant to cell fate determination under normal and pathological conditions. The activity of lncRNAs is strongly dependent on their expression, localization, and post-transcriptional modifications. Starting from our recently published studies, this review focuses on the involvement of lncRNAs in the acquisition of malignant traits by neoplastic thymic epithelial cells, and describes the possible use of these molecules as targets for the design of novel therapeutic approaches specific for TET. Furthermore, the involvement of lncRNAs in myasthenia gravis (MG)-related thymoma, which is still under investigation, is discussed.
Topics: Epithelial Cells; Humans; Neoplasms, Glandular and Epithelial; RNA, Long Noncoding; Thymoma; Thymus Neoplasms
PubMed: 35529877
DOI: 10.3389/fimmu.2022.867181 -
Journal of Thoracic Oncology : Official... Oct 2010Thymoma is a rare malignancy of unknown etiology. (Review)
Review
BACKGROUND
Thymoma is a rare malignancy of unknown etiology.
METHODS
The author examined patterns in thymoma incidence in the US general population using data from Surveillance, Epidemiology, and End Results (SEER) cancer registries. Prior studies concerning the risk of additional malignancies in thymoma patients were reviewed.
RESULTS
Based on cancer registry data, the overall incidence of thymoma in the US is 0.13 per 100,000 person-years. Thymoma is exceedingly uncommon in children and young adults, rises in incidence in middle age, and peaks in the seventh decade of life. Thymoma incidence is especially high among Asians and Pacific Islanders in the US. While several studies based at single treatment centers have suggested that thymoma patients have a broadly increased risk for other malignancies, follow up data from US cancer registries support a more limited spectrum of cancer risk. In particular, thymoma patients have a subsequently elevated risk for developing B-cell non-Hodgkin's lymphoma. Based on limited data, thymoma patients may also have an elevated risk for developing soft tissue sarcomas.
DISCUSSION
Thymoma is a rare malignancy. The excess risk for non-Hodgkin's lymphoma is consistent with an effect of immune disturbance arising from the thymoma or its treatment. While descriptive epidemiologic data may yield clues to the etiology of thymoma, large multi-center case-control studies will be required to formally evaluate environmental and genetic risk factors.
Topics: Humans; Neoplasms, Second Primary; Thymoma; Thymus Neoplasms
PubMed: 20859116
DOI: 10.1097/JTO.0b013e3181f1f62d -
Thoracic Cancer Feb 2021Fibrous bands (FBs) are one of the histological features in tumors which can be confirmed by hematoxylin and eosin (H&E)-stained slides. FBs have been reported to...
BACKGROUND
Fibrous bands (FBs) are one of the histological features in tumors which can be confirmed by hematoxylin and eosin (H&E)-stained slides. FBs have been reported to correlate with malignancy in various tumors. This study aimed to investigate whether the presence of FBs is associated with malignancy in thymoma.
METHODS
A total of 123 consecutive patients with thymoma who underwent microscopically complete resections from January 2000 to December 2018 were enrolled into this study. H&E-stained slides of all thymoma patients were re-examined. Study patients were classified into two groups: with FBs (n = 36) and without FBs (n = 87). Clinicopathological characteristics, overall survival (OS), and recurrence-free survival (RFS) were compared between the two groups. Furthermore, multivariate analyses were performed to identify whether the presence of FBs was associated with higher Masaoka stage and poor prognosis in patients with thymoma.
RESULTS
The Masaoka stage was found to be higher and recurrence more likely in thymoma patients with FBs than in those without. RFS was significantly poorer in thymoma patients with FBs than in those without, although no significant difference was observed in OS between them. The presence of FBs was significantly associated with higher Masaoka stage in the multivariate analysis using logistic regression. Additionally, the presence of FBs was an independent prognostic factor for poor RFS in multivariate analysis using Cox's proportional hazards model.
CONCLUSIONS
The presence of FBs in patients with thymoma was associated with higher Masaoka stage, higher recurrence rate, and poorer RFS.
KEY POINTS
SIGNIFICANT FINDINGS OF THE STUDY: Fibrous bands (FBs) are bands of fibrosis dividing tumors into different-sized irregular islands. The presence of FBs is associated with higher Masaoka stage and poor recurrence-free survival in patients with thymoma.
WHAT THIS STUDY ADDS
The presence of fibrous bands might be associated with the malignant behavior of thymoma. Confirming the presence or absence of FBs may result in personalized medication for patients with thymoma.
Topics: Adult; Aged; Aged, 80 and over; Female; Fibrosis; Humans; Male; Middle Aged; Neoplasm Recurrence, Local; Neoplasm Staging; Thymoma; Young Adult
PubMed: 33236521
DOI: 10.1111/1759-7714.13755 -
Medicine Dec 2018Malignant thymoma in the spine is a rare disease without standard curative managements so far. The objective of this article is to report a very rare case of recurrent... (Review)
Review
RATIONALE
Malignant thymoma in the spine is a rare disease without standard curative managements so far. The objective of this article is to report a very rare case of recurrent malignant thymoma with sacrum metastases causing severe lumbosacral pain, which was presented with acute radiculopathy and treated with 2 operations combined with stabilization and cement augmentation. The management of these unique cases is not well-documented.
PATIENT CONCERNS
A 75-year-old man presented with lumbosacral pain, radiating pain and numbness of the left extremity. The patient underwent thymectomy in 2008, and posterior spinal cord decompression, tumor resection and a stabilization procedure in 2011. Pathologic results confirmed malignant thymomas of the spine. Imaging studies revealed the density of soft tissues, obvious bony destruction in the sacrum, and significant spinal cord obstruction.
DIAGNOSES
We believe this is a less-documented case of metastatic thymoma of the sacral spine presenting with back pain and radiculopathy, and presenting as a giant solid tumor.
INTERVENTIONS
The patient underwent osteoplasty via a posterior approach. Pathologic results confirmed malignant thymomas of the sacral spine.
OUTCOMES
The patient's neurological deficits improved significantly after the surgery, and the postoperative period was uneventful at the 6-month and 1-year follow-up visit. There were no other complications associated with the operation during the follow-up period.
LESSONS
This article emphasizes metastatic thymoma of the spine, although rare, should be part of the differential when the patient presents with back pain and radiculopathy. We recommend the posterior approach for spinal decompression of the metastatic thymoma when the tumor has caused neurological deficits. Osteoplasty by cement augmentation is also a good choice for surgical treatment.
Topics: Aged; Humans; Low Back Pain; Magnetic Resonance Imaging; Male; Sacrum; Spinal Neoplasms; Thymoma; Thymus Neoplasms; Whole Body Imaging
PubMed: 30572538
DOI: 10.1097/MD.0000000000013796 -
Journal of Veterinary Diagnostic... Mar 2022A 4-y-old, spayed female, mixed-breed domesticated rabbit () was presented because of progressive bilateral exophthalmos, with a large mediastinal mass in the cranial...
A 4-y-old, spayed female, mixed-breed domesticated rabbit () was presented because of progressive bilateral exophthalmos, with a large mediastinal mass in the cranial thorax. Palliative radiation therapy was elected, and 4 fractions of 5 Gy were delivered twice weekly under general anesthesia using 3-dimensional conformal radiation therapy for a total dose of 20 Gy, guided by an on-board cone beam CT scan. Quality-of-life and respiratory rate improved before sudden death that followed an episode of dyspnea. The overall survival time following initial diagnosis was 93 d, with 68 d after the first dose of radiation. An autopsy was performed, and the mass was diagnosed as a type A thymoma. The diagnosis was confirmed with positive immunohistochemical labeling of the neoplastic cells for cytokeratin 5/6 and cytokeratin 7.
Topics: Animals; Female; Rabbits; Thymoma; Thymus Neoplasms
PubMed: 35098805
DOI: 10.1177/10406387221077086 -
Oncology (Williston Park, N.Y.) Jul 1998Thymomas are rare, slow-growing neoplasms that are considered to be malignant because of their potential invasiveness. The most widely used staging system is that of... (Review)
Review
Thymomas are rare, slow-growing neoplasms that are considered to be malignant because of their potential invasiveness. The most widely used staging system is that of Masaoka and colleagues, which takes into account the extent of clinical and histopathologically determined disease involvement. However, recent data suggest that the staging system of the French Study Group on Thymic Tumors (GETT system), which is based on the surgical and pathologic features of the tumor, may be superior to the Masaoka system. Total resection followed by radiation therapy is the treatment of choice for all thymomas, except stage IA tumors, which can be treated with surgery alone. Chemotherapy can improve the outcome of invasive Masaoka stage III and IV thymomas or recurrent thymomas. Only platinum-containing regimens show consistent efficacy.
Topics: Antineoplastic Agents; Antineoplastic Combined Chemotherapy Protocols; Chemotherapy, Adjuvant; Humans; Neoplasm Invasiveness; Neoplasm Recurrence, Local; Neoplasm Staging; Platinum; Radiotherapy, Adjuvant; Thymectomy; Thymoma; Thymus Neoplasms
PubMed: 9684271
DOI: No ID Found -
Medicina (Kaunas, Lithuania) Sep 2021: Thymomas are associated with a high frequency of paraneoplastic manifestations. Paraneoplastic syndrome (PNS) with thymoma presents a challenge to clinicians because...
: Thymomas are associated with a high frequency of paraneoplastic manifestations. Paraneoplastic syndrome (PNS) with thymoma presents a challenge to clinicians because of the need to decipher the association between the presenting symptoms and the underlying tumor. The condition most commonly noted in patients with PNS with thymoma is myasthenia gravis. Other common autoimmune diseases that may present as PNS include systemic lupus erythematosus, pure red cell aplasia, and Good syndrome. Seventy-six percent of patients with PNS-associated thymoma experience resolution of PNS after curing thymoma. : A 37-year-old man with a two-month fever accompanied by polyarthritis accidently found thymoma after contrast computed tomography scans of his chest. He accepted Video assisted thoracoscopic surgery with resection of thymoma. : Fever and polyarthritis resolved after operation but recurred in five days due to cytomegalovirus viremia, which might be predisposed by previous antibiotics treatment before the diagnosis of thymoma. : Patients with a thymoma also have a high frequency of PNS, and the most frequent condition found in patients with PNS-associated thymoma is myasthenia gravis. Fever with polyarthritis has been rarely reported as a symptom of PNS-associated thymoma. Here we reported an unusual case of PNS mimicking reactive arthritis with thymoma, as diagnosed based on the patient's clinical progression, imaging examination, and laboratory tests. The patient died of his comorbidities, and his death may have been related to long-term antibiotic use and consequent intestinal dysbiosis. This challenging case may help to inform clinicians of the need for detailed work-up of fever with unknown origin in the presence of chronic polyarthritis to prevent the overdiagnosis of inflammatory arthritis or rheumatic disease and avoid further comorbidities. Detailed work-up should include the patient's history of infections, inflammation, and malignant or nonmalignant tumors.
Topics: Adult; Arthritis, Reactive; Humans; Male; Myasthenia Gravis; Neoplasm Recurrence, Local; Paraneoplastic Syndromes; Thymoma; Thymus Neoplasms
PubMed: 34577855
DOI: 10.3390/medicina57090932