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Chang Gung Medical Journal 2011Cardiac myxoma, the most common primary tumor of the heart, has variable clinical presentations and an immunohistochemical profile. Survivin, an antiapoptosis protein,...
BACKGROUND
Cardiac myxoma, the most common primary tumor of the heart, has variable clinical presentations and an immunohistochemical profile. Survivin, an antiapoptosis protein, may play an important role in the causes of cardiac myxoma. This investigation will report the expression pattern of survivin in cardiac myxomas.
METHODS
This study included 40 patients with cardiac myxoma, who were treated with surgical excision of the lesion. Detailed clinical parameters were reported and the expression of survivin was studied by immunohistochemical staining.
RESULTS
The patient population was comprised of 24 (60%) women and 16 (40%) men. The mean age of the patients was 42 years, with an age range of 30 to 63 years. All study cases were sporadic myxomas rather than familial myxoma. Patients were asymptomatic (20%), or had dyspnea (40%), stroke (15%), chest pain (12%), and fever (12%) on presentation. All lesions were located in the left atrium. The location of the myxoma and clinical events did not differ in terms of pathological changes, such as vascular proliferation, inflammation, cellularity, hyaline, calcification and thrombosis. Cardiac myxoma was characterized by a survivin dependent pathway with 100% immunohistochemical staining in the cytoplasm and the distribution in scoring system of survivin expression were 1 case (2.5%) in score 1; 12 cases (30%) in score 2; 12 cases (30%) in score 3 and 15 (37.5%) in score 4.
CONCLUSION
Cardiac myxomas demonstrate strong expression of survivin in the cytoplasm. This implies survivin may play an important role in the apoptosis pathway in cardiac myxomas.
Topics: Adult; Female; Heart Neoplasms; Humans; Immunohistochemistry; Inhibitor of Apoptosis Proteins; Male; Middle Aged; Myxoma; Survivin
PubMed: 21880190
DOI: No ID Found -
Turk Patoloji Dergisi 2020Myxomas are rare in the vocal cords. A 69-year-old man was admitted with one-year history of progressive dysphonia. Laryngoscopy revealed a polypoid mass on the right... (Review)
Review
Myxomas are rare in the vocal cords. A 69-year-old man was admitted with one-year history of progressive dysphonia. Laryngoscopy revealed a polypoid mass on the right vocal cord. The diagnosis was cellular myxoma. A review of the literature including the present case revealed eleven reported cases of myxoma. Ten cases were classic myxoma. To the best of our knowledge, cellular myxoma has not been previously reported in the vocal cord. Hypercellularity does not affect the behavior of cellular myxoma. However, its recognition is important to prevent confusion with the group of low-grade myxoid sarcomas. Cellular myxoma should be considered in the differential diagnosis of any vocal cord mass.
Topics: Aged; Humans; Laryngeal Neoplasms; Male; Myxoma; Treatment Outcome; Vocal Cords
PubMed: 29235612
DOI: 10.5146/tjpath.2017.01417 -
Acta Ophthalmologica Scandinavica Apr 2004To present the clinical and histopathological characteristics of a corneal myxoma. (Review)
Review
PURPOSE
To present the clinical and histopathological characteristics of a corneal myxoma.
METHODS
A 36-year-old, white woman presented with blurred vision and a whitish opacity on the left cornea. Clinical examination revealed a whitish, non-tender, 5 x 9 mm superficial tumour on the cornea. The tumour was excised and examined microscopically.
RESULTS
The tumour was composed of spindle-shaped cells in a myxomatous ground substance. Immunohistochemically, the tumour cells were positive for vimentin, muscle-specific antigen and smooth muscle antigen. The tumour was classified as a myxoma of the cornea. The origin of the tumour is discussed.
CONCLUSION
This is the second reported case of a corneal myxoma without prior corneal disease.
Topics: Adult; Biomarkers, Tumor; Corneal Diseases; Eye Neoplasms; Female; Humans; Myxoma
PubMed: 15043547
DOI: 10.1111/j.1600-0420.2004.00249.x -
International Journal of Molecular... May 2024Cellular myxoma is a benign soft tissue tumor frequently associated with mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to...
Cellular myxoma is a benign soft tissue tumor frequently associated with mutation that may morphologically resemble low-grade myxofibrosarcoma. This study aimed to identify the undescribed methylation profile of cellular myxoma and compare it to myxofibrosarcoma. We performed molecular analysis on twenty cellular myxomas and nine myxofibrosarcomas and analyzed the results using the methylation-based DKFZ sarcoma classifier. A total of 90% of the cellular myxomas had mutations (four loci had not been previously described). Copy number variations were found in all myxofibrosarcomas but in none of the cellular myxomas. In the classifier, none of the cellular myxomas reached the 0.9 threshold. Unsupervised t-SNE analysis demonstrated that cellular myxomas form their own clusters, distinct from myxofibrosarcomas. Our study shows the diagnostic potential and the limitations of molecular analysis in cases where morphology and immunohistochemistry are not sufficient to distinguish cellular myxoma from myxofibrosarcoma, particularly regarding wild-type tumors. The DKFZ sarcoma classifier only provided a valid prediction for one myxofibrosarcoma case; this limitation could be improved by training the tool with a more considerable number of cases. Additionally, the classifier should be introduced to a broader spectrum of mesenchymal neoplasms, including benign tumors like cellular myxoma, whose distinct methylation pattern we demonstrated.
Topics: Humans; Myxoma; DNA Methylation; Fibrosarcoma; Middle Aged; Female; Aged; Male; Adult; DNA Copy Number Variations; Mutation; Diagnosis, Differential; GTP-Binding Protein alpha Subunits, Gs; Chromogranins; Aged, 80 and over; Soft Tissue Neoplasms
PubMed: 38791144
DOI: 10.3390/ijms25105105 -
Archives of Iranian Medicine Jun 2023Inactivating mutations of the protein kinase A regulatory subunit 1 alpha () gene have been reported in familial cardiac myxoma. However, the role of mutation in...
BACKGROUND
Inactivating mutations of the protein kinase A regulatory subunit 1 alpha () gene have been reported in familial cardiac myxoma. However, the role of mutation in sporadic cardiac myxoma remains unknown.
METHODS
Targeted next-generation sequencing (NGS) was performed to identify mutations with the gene in seven cases of sporadic cardiac myxomas. Sanger sequencing of DNA from cardiac myxoma specimens and matched peripheral blood samples was performed to verify the identified mutations.
RESULTS
Targeted NGS of myxoma DNA revealed 232 single nucleotide variants in 141 genes and 38 insertion-deletion mutations in 13 genes. Six mutations were identified in four of the seven cardiac myxoma cases, and thus, the inactivating mutation rate was 57.2% (4/7, 95% CI=0.44-0.58, <0.05). The variants identified by Sanger sequencing analysis were consistent with those from the NGS analysis for the four myxoma specimens. All of the pathogenic mutations led to premature termination of , except for one synonymous mutation. Moreover, none of the nonsense and missense mutations found in the myxoma specimens were found in the matched peripheral blood samples.
CONCLUSION
Pathogenic mutations of the gene were identified in tumor specimens from four cases of sporadic cardiac myxoma, and the absence of these mutations in peripheral blood samples demonstrated that they were somatic mutations.
Topics: Humans; Cyclic AMP-Dependent Protein Kinases; Myxoma; Heart Neoplasms; Mutation; DNA; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PubMed: 38310436
DOI: 10.34172/aim.2023.52 -
BMC Ophthalmology May 2016Conjunctival myxomas are rare, benign, connective tissue tumours that classically present as slow-growing, painless, well-circumscribed masses (Arch Ophthalmol... (Review)
Review
BACKGROUND
Conjunctival myxomas are rare, benign, connective tissue tumours that classically present as slow-growing, painless, well-circumscribed masses (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012). There have been 29 cases reported in the literature (Arch Ophthalmol 124:735-8, 2006; Malays J Med Sci 20(1):92-4, 2013; Case Rep Ophthalmol 3:145-50, 2012; Middle East Afr J Ophthalmol 19(3):353-3, 2012). We present a case with atypical features, and emphasize the importance of excisional biopsies for diagnosing indeterminate conjunctival lesions.
CASE PRESENTATION
A 32 year old Korean woman presented with a 5 mm × 7 mm × 3 mm pedunculated firm cystic lesion on the inferior palpebral conjunctiva of her right lower eyelid. The lesion had rapidly enlarged over the course of a week. She gave a history of uncomplicated bilateral epiblepharon correction performed in Korea three months prior. There were no systemic features, or family history of genetic conditions. The lesion was excised under local anaesthesia and reported to be a conjunctival myxoma. The clinical and histopathological features of this lesion were consistent with previous reports on conjunctival myxoma (Arch Ophthalmol 124:735-8, 2006; Arch Ophthalmol 101:1416-20, 1983; Case Rep Ophthalmol 3:145-50, 2012; Am J Ophthalmol 102(1):80-84, 1986). The unusual features of this case were, the rapid growth of the lesion - with the previously documented mean time before presentation being 34 months (range 3 months - 24 years) (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012); the location of the lesion in the inferior palpebral conjunctiva - 93 % of previously reported cases had occurred in the bulbar conjunctiva (Arch Ophthalmol 124:735-8, 2006; Case Rep Ophthalmol 3:145-50, 2012); and its occurrence in association with recent eyelid surgery - which has never been reported.
CONCLUSION
This case of conjunctival myxoma adds to the small number of documented cases, by demonstrating an atypical presentation. Conjunctival myxomas can occur in association with the Carney Complex, which is an autosomal dominant syndrome associated with benign tumours, spotty mucocutaneous pigmentation, and endocrine overactivity (Ophthalmic Surg Lasers Imaging 39(6):514-6, 2008). Ophthalmic manifestations of the Carney Complex have been found to precede vascular embolic events secondary to cardiac myxoma, thus early diagnosis of conjunctival myxoma can prevent potentially devastating consequences (Ophthalmic Surg Lasers Imaging 39(6):514-6, 2008). The different presentations of this rare tumour emphasise the importance of excisional biopsies in diagnosing indeterminate conjunctival lesions; and its association with cardiac myxoma, highlights the need for cardiac investigations in all patients who present with conjunctival myxoma (J Ophthalmol (1);1-5, 2014; Ophthalmic Surg Lasers Imaging 39(6):514-6, 2008).
Topics: Adult; Conjunctival Neoplasms; Diagnosis, Differential; Female; Humans; Myxoma
PubMed: 27177589
DOI: 10.1186/s12886-016-0233-1 -
Neurology India 2021Myxomas are the most common cardiac tumors and present clinically with cardiac manifestations, systemic constitutional symptoms, and embolic events. Posterior... (Review)
Review
Myxomas are the most common cardiac tumors and present clinically with cardiac manifestations, systemic constitutional symptoms, and embolic events. Posterior circulation involvement occurs in approximately 20 percent of cerebral ischemic events.The endovascular technique is an established life-saving therapy for eligible patients upto 24 hours from symptom onset. However, the role of endovascular management in embolic atrial myxoma remains unknown with no international consensus guidelines for the management of stroke in such patient population. Here, we present a case report of an embolic posterior circulation stroke in a young female treated with mechanical thrombectomy at 23 hours from symptom onset. To the best of our knowledge, this is the first thrombectomy case in posterior circulation with embolism from myxoma. Further workup confirmed an atrial myxoma which was resected. We also review the previous cases with mechanical thrombectomy done in such cases.
Topics: Embolism; Female; Heart Neoplasms; Humans; Myxoma; Stroke; Thrombectomy
PubMed: 34169873
DOI: 10.4103/0028-3886.319216 -
Brazilian Journal of Cardiovascular... 2019To disclose the relationships between the anatomic features of cardiac myxomas and plasma interleukin (IL)-6 levels.
OBJECTIVE
To disclose the relationships between the anatomic features of cardiac myxomas and plasma interleukin (IL)-6 levels.
METHODS
Twelve patients undergoing cardiac myxoma resection at The First Hospital of Putian, Teaching Hospital, Fujian Medical University were enrolled into this study. Pre- and postoperative IL-6 levels were determined by an enzyme-linked immunosorbent assay method, and correlations between cardiac myxoma dimension or volume and plasma IL-6 levels were analyzed. C-reactive protein (CRP) levels were also evaluated.
RESULTS
IL-6 and CRP levels were significantly decreased one month after cardiac myxoma resection in comparison to preoperative values. IL-6 and CRP levels did not differ between patients with a cardiac myxoma of irregular appearance and those with a myxoma of regular gross appearance, or between patients with a pedicled or a sessile myxoma. Decrement of IL-6 of patients with irregular cardiac myxomas was much higher than that of patients with regular ones, while no intergroup difference was noted in decrement of CRP. A close direct correlation was noted between IL-6 levels and maximal dimension (length) or volume of cardiac myxomas, whereas CRP levels only correlated with maximal dimension of cardiac myxomas.
CONCLUSION
Anatomic features of cardiac myxomas (sessile, irregular appearance, maximal dimension, and volume) could be determinants of the patients' circulating IL-6 levels. IL-6 was likely to be a more sensitive biomarker than CRP in predicting the inflammatory status of patients with cardiac myxoma. Sessile and irregular cardiac myxomas might predict more severe inflammatory conditions for their more abundant endothelial cells and IL-6 overproduction.
Topics: Aged; Biomarkers, Tumor; C-Reactive Protein; Enzyme-Linked Immunosorbent Assay; Female; Heart Neoplasms; Humans; Interleukin-6; Male; Middle Aged; Myxoma; Postoperative Period; Preoperative Period; Reference Values; Retrospective Studies; Tumor Burden
PubMed: 30810670
DOI: 10.21470/1678-9741-2018-0161 -
Oncology Research and Treatment 2020Myxofibrosarcoma (MFS) is among the most highly complex sarcoma types. Molecular cytogenetic studies have identified a high level of genomic complexity. (Review)
Review
BACKGROUND
Myxofibrosarcoma (MFS) is among the most highly complex sarcoma types. Molecular cytogenetic studies have identified a high level of genomic complexity.
SUMMARY
This review provides an update of the current research related to MFS, with particular emphasis on emerging mechanisms of tumorigenesis and their potential therapeutic impact. Many novel possible molecular markers have been identified, not only for prognostication in MFS, but also to serve as possible therapeutic targets, and thereby improve clinical outcomes. However, the molecular pathogenesis of MFS remains incompletely understood. Key Messages: Patients suffering from advanced MFS might benefit from expanded molecular evaluation in order to detect specific expression profiles and identify drug-able targets. Moreover, immunotherapy represents an intriguingly perspective due to the presence of "T-cell inflamed" tumor microenvironment.
Topics: Biomarkers, Tumor; Fibrosarcoma; Humans; Immunotherapy; Molecular Targeted Therapy; Mutation; Myxoma; Tumor Microenvironment
PubMed: 32450554
DOI: 10.1159/000507334 -
Journal of the American Veterinary... Aug 2019
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Male; Myxoma; Neurologic Examination; Spinal Neoplasms
PubMed: 31298638
DOI: 10.2460/javma.255.3.295