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European Respiratory Review : An... Dec 2021Thymic tumours are rare thoracic malignancies, that may be aggressive and difficult to treat. The pillars of the management include pathological review, consideration of... (Review)
Review
Thymic tumours are rare thoracic malignancies, that may be aggressive and difficult to treat. The pillars of the management include pathological review, consideration of differential diagnoses, staging and multidisciplinary discussion. Assessment of resectability is key to drive the treatment sequencing. Association with autoimmune diseases, especially myasthenia gravis, is observed, which impacts the oncological management. Networks are being built at the national and international levels. This article provides an overview of the most recent findings in the diagnosis, staging, histology, and management strategies of thymic tumours.
Topics: Diagnosis, Differential; Humans; Myasthenia Gravis; Retrospective Studies; Thymoma; Thymus Neoplasms
PubMed: 34670805
DOI: 10.1183/16000617.0394-2020 -
Thoracic Cancer Nov 2021A thymoma is a type of thymic tumor which is rarely malignant that is frequently reported in adult patients. A number of thymoma-related immune disorders are observed... (Review)
Review
A thymoma is a type of thymic tumor which is rarely malignant that is frequently reported in adult patients. A number of thymoma-related immune disorders are observed including autoimmune diseases, which suggests a strong connection between thymoma development and immunological mechanisms. Characterized by association with humoral and cellular immunodeficiency, thymoma patients are susceptible to opportunistic infections by environmental factors. Recent reports have suggested that viral infection may play a role in the etiological mechanisms of thymoma development associated with dysregulated immunity. In this review, we summarize the case reports and studies related to viral infection, such as CMV, EBV and HSV, that probably play a part in the pathogenesis of thymoma and related diseases. Furthermore, we demonstrate the underlying mechanisms by which viruses may induce the occurrence of thymoma with autoimmune diseases. Lastly, we discuss the potential application of antiviral therapy in the treatment of thymic diseases.
Topics: Autoimmune Diseases; Humans; Opportunistic Infections; Thymoma; Thymus Neoplasms; Virus Diseases
PubMed: 34532982
DOI: 10.1111/1759-7714.14157 -
Magnetic Resonance Imaging Clinics of... May 2015Thymoma is the most common primary malignancy of the anterior mediastinum and the most common thymic epithelial neoplasm, but it is a rare tumor that constitutes less... (Review)
Review
Thymoma is the most common primary malignancy of the anterior mediastinum and the most common thymic epithelial neoplasm, but it is a rare tumor that constitutes less than 1% of adult malignancies. Computed tomography (CT) is currently the imaging modality of choice for distinguishing thymoma from other anterior mediastinal masses, characterizing the primary tumor, and staging the disease. However, magnetic resonance imaging is also effective in evaluating and characterizing anterior mediastinal masses and staging thymoma in patients with contraindications to contrast-material-enhanced CT such as contrast allergy and/or renal failure.
Topics: Adult; Aged; Female; Humans; Magnetic Resonance Imaging; Male; Mediastinal Neoplasms; Middle Aged; Thymoma; Thymus Neoplasms
PubMed: 25952513
DOI: 10.1016/j.mric.2015.01.005 -
BMJ Case Reports Jun 2024A young woman in her early 30s presented with a right thyroid mass and progressive hoarseness due to a right vocal cord palsy. The preoperative fine-needle aspiration...
A young woman in her early 30s presented with a right thyroid mass and progressive hoarseness due to a right vocal cord palsy. The preoperative fine-needle aspiration cytology was classified as Bethesda V and she underwent a total thyroidectomy and neck dissection. Intraoperatively, the thyroid mass was adherent to the oesophagus, trachea and encasing the right recurrent laryngeal nerve which was sacrificed. Final histopathology diagnosed a rare subtype of thyroid cancer known as intrathyroidal thymic carcinoma (ITC). She was then sent for adjuvant radiotherapy after a multidisciplinary tumour board discussion. This case report highlights the difficulty in preoperative diagnosis of ITC and the importance of immunohistochemical staining in clinching the diagnosis. In view of its rarity, there have been no published consensus on the treatment of ITC, hence we would like to share some learning points through a comprehensive literature review.
Topics: Humans; Female; Thyroid Neoplasms; Thymus Neoplasms; Thyroidectomy; Adult; Biopsy, Fine-Needle; Thymoma; Neck Dissection; Radiotherapy, Adjuvant; Diagnosis, Differential; Hoarseness
PubMed: 38862190
DOI: 10.1136/bcr-2024-260938 -
Seminars in Diagnostic Pathology Mar 2022Thymic epithelial tumors (TETs) are extremely rare and represent the most frequent tumors of the anterior mediastinum originating from epithelial cells in the thymus.... (Review)
Review
Thymic epithelial tumors (TETs) are extremely rare and represent the most frequent tumors of the anterior mediastinum originating from epithelial cells in the thymus. Thymic epithelial tumors include thymomas (TM), thymic carcinomas (TC) and thymic neuroendocrine neoplasms (TNEN). Thymomas are the most predominant and are associated with autoimmune diseases. The available data suggests that the different histological subtypes have specific molecular alterations. Thymic carcinoma shows recurrent gene mutations, but further investigations are needed to understand the role of those mutations in the pathogenetic of the TETs. Some of the new emerging identified molecular alterations have the potential to offer new targeted therapies opening new possibilities for the treatment of thymic epithelial tumors.
Topics: Humans; Mutation; Neoplasms, Glandular and Epithelial; Thymoma; Thymus Neoplasms
PubMed: 34272124
DOI: 10.1053/j.semdp.2021.06.011 -
Archivos de Bronconeumologia May 2019
Topics: Autoimmune Diseases; Humans; Myasthenia Gravis; Thymoma; Thymus Neoplasms
PubMed: 29801679
DOI: 10.1016/j.arbres.2018.03.014 -
Virchows Archiv : An International... Sep 2016Thymomas are rare tumors that usually manifest in the anterosuperior mediastinum. Occasionally, thymomas may also originate from ectopically dispersed thymic tissue and... (Review)
Review
Thymomas are rare tumors that usually manifest in the anterosuperior mediastinum. Occasionally, thymomas may also originate from ectopically dispersed thymic tissue and can arise in locations such as the neck, lung, or pleura or other locations in the thoracic cavity. The occurrence of thymomas in these ectopic locations can cause substantial diagnostic difficulty as the entity is almost never included in the differential diagnosis and its biphasic morphology can cause further complications during the diagnostic process. In this review, we summarize the clinical and pathological spectrum of ectopic thymomas and discuss the histogenesis, treatment, and prognosis of these extraordinary tumors.
Topics: Animals; Carcinoma; Humans; Lung; Pleura; Prognosis; Thymoma; Thymus Neoplasms
PubMed: 27255665
DOI: 10.1007/s00428-016-1967-0 -
Virchows Archiv : An International... Jan 2021Thymic carcinoma encompasses a diverse group of rare tumors that occur almost exclusively in the prevascular (anterior) mediastinum. Thymic carcinomas have a worse... (Review)
Review
Thymic carcinoma encompasses a diverse group of rare tumors that occur almost exclusively in the prevascular (anterior) mediastinum. Thymic carcinomas have a worse outcome than thymomas with a median time to death of under 3 years. These tumors lack the typical lobulation of thymomas, exhibit commonly more cytologic atypia, are associated with a desmoplastic stromal reaction, and lack thymocytes, features that distinguish them from thymomas. The most common thymic carcinoma is squamous cell carcinoma; other subtypes include mucoepidermoid carcinoma, NUT carcinoma, and adenocarcinoma, among others. Largely due to multi-institutional and global efforts and meta-analysis of case reports and series, some of the thymic carcinoma subtypes have been studied in more detail and molecular studies have also been performed. Morphology and immunophenotype for the vast majority of thymic carcinoma subtypes are similar to their counterparts in other organs. Therefore, the distinction between thymic carcinoma and metastatic disease, which is relatively common in the prevascular mediastinum, can be challenging and in general requires clinical and radiologic correlation. Although surgical resection is the treatment of choice, only 46 to 68% of patients with thymic carcinoma can undergo resection as many other tumors present at high stage with infiltration into vital neighboring organs. These patients are usually treated with chemotherapy and/or radiation. The search for better biomarkers for prognosis and treatment of thymic carcinomas is important for improved management of these patients and possible targeted therapy.
Topics: Adenocarcinoma; Carcinoma, Squamous Cell; Humans; Prognosis; Thymoma; Thymus Neoplasms
PubMed: 33389148
DOI: 10.1007/s00428-020-03000-6 -
The American Journal of the Medical... Sep 2021Thymic neoplasms are rare and may run an indolent course. Among them, thymic epithelial carcinoma is exceptional as it may be presented with extensive local invasion and... (Review)
Review
Thymic neoplasms are rare and may run an indolent course. Among them, thymic epithelial carcinoma is exceptional as it may be presented with extensive local invasion and distant metastases. There is a wide spectrum of autoimmune/paraneoplastic syndromes associated with thymic tumors including autoimmune diseases, some of which may precede the diagnosis of thymoma. This article describes a 37-year-old woman with metastatic malignant thymoma and a combination of manifestations from different organs. Vitiligo, Raynaud's phenomenon and anti-centromere antibodies were preceded while eosinophilia, interstitial lung disease, rash, thickening of the skin and asymptomatic cryoglobulinemia were diagnosed concomitantly with the neoplasm. We have reviewed the literature and found only twenty case reports with a cluster of three or more autoimmune/paraneoplastic syndromes in the same patient but none with this unique constellation of disorders. The diversity of thymoma's clinical presentation and laboratory/histological features may cause diagnostic dilemmas and therapeutic challenges.
Topics: Adult; Antineoplastic Combined Chemotherapy Protocols; Female; Humans; Paraneoplastic Syndromes; Thymoma; Thymus Neoplasms
PubMed: 33961845
DOI: 10.1016/j.amjms.2021.04.012 -
Journal of Clinical Neuromuscular... Dec 2023Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle...
OBJECTIVES
Isaac syndrome (IS) is a condition characterized by peripheral nerve hyperexcitability caused by voltage-gated potassium channel (VGKC)-complex antibodies. Muscle twitching, stiffness, hypertrophy, and dysautonomic characteristics, such as hyperhidrosis, are common manifestations. The syndrome can be autoimmune or paraneoplastic, with thymoma being a common cause of paraneoplastic IS. Furthermore, this condition could be handed down from one generation to another. However, there is limited information regarding outcomes, relapses, associated syndromes, associated malignancies (other than thymoma), and treatment options. Despite its rarity, there remains a need for effective management strategies for patients with IS. To address this gap, we conducted a systematic review to summarize the most common and effective treatments of IS in immunomodulatory agents and symptomatic medications, as well as to describe outcomes, relapses, and associated malignancies. Altogether, this review serves to guide clinical practice recommendations for IS and highlight areas for further research.
METHODS
We used the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol to conduct a systematic review of cases reposted through the PubMed and Google Scholar databases. The terms "Isaac Syndrome" and "Acquired Neuromyotonia" were used. The Joanna Briggs Institute's critical appraisal tool was used to evaluate the quality of the included studies.
RESULTS
We identified 61 case reports and 4 case series, comprising a total of 70 patients with IS (mean age at onset: 42.5 ± 18 years, and 69% were males). Fourteen cases reported relapses. Thymoma was the most common malignancy associated with IS, followed by lymphoma. Among various serum antibodies, voltage-gated potassium channel-complex antibodies were the most reported antibodies elevated in IS (reported in 38 patients and elevated in 21 patients [55.2%]), followed by acetylcholine ganglionic receptor antibodies, which were reported in 30% of patients (n = 21) and were elevated in 5 cases. The most common electromyography findings were myokymic discharges (n = 22), followed by fasciculations (n = 21) and neuromyotonia (n = 19). For treatment, combining anticonvulsants such as carbamazepine with immunotherapy therapy showed the best results in controlling the symptoms. Among immunotherapy therapies, the combination of plasma exchange plus intravenous high-dose steroids achieved the best results in the acute treatment of IS ([n = 6], with improvement noted in 83.3% [n = 5] of cases). Among the symptomatic treatments with anticonvulsants, carbamazepine was the most efficacious anticonvulsant in treatment of IS, with an average effective dosing of 480 mg/day (carbamazepine was used in 32.3% of acute treatment strategies [n = 23], with improvement noted in 73.9% [n = 17] of cases).
CONCLUSIONS
IS a rare neuromuscular syndrome that tends to affect middle-aged men. These patients should be screened for thymoma and other malignancies such as lymphomas. The management of IS symptoms can be challenging, but based on our review, the combination of multiple immunosuppressives such as IV steroids and plasmapheresis with anticonvulsants such as carbamazepine seems to achieve the best results.
Topics: Male; Middle Aged; Humans; Female; Isaacs Syndrome; Thymoma; Anticonvulsants; Thymus Neoplasms; Autoantibodies; Potassium Channels, Voltage-Gated; Carbamazepine; Receptors, Cholinergic; Steroids; Recurrence
PubMed: 37962197
DOI: 10.1097/CND.0000000000000460