Explore the vast range of titles available.

Abstract Context Germline mutations in fumarate hydratase (FH) gene are known to cause hereditary leiomyomatosis and renal cell carcinoma (HLRCC) and are occasionally accompanied with cutaneous and uterine leiomyoma or cortisol-producing adrenocortical hyperplasia. However, the association between FH mutations and cardiac or adrenocortical tumors has remained unknown. Here, we identified a novel deletion in FH, exhibiting cardiac myxoma and subclinical Cushing syndrome due to adrenocortical tumor. Case Description A 44-year-old man was referred to our hospital for cardiac and adrenal tumor evaluation. He had a history of multiple painful, dermal papules and nodules diagnosed as cutaneous leiomyoma. The surgically resected cardiac tumor was diagnosed as myxoma. The adrenal tumor was clinically diagnosed as subclinical Cushing syndrome. Laparoscopically resected adrenal tumor was pathologically diagnosed as adrenocortical adenoma harboring unique histological findings similar to primary pigmented nodular adrenocortical disease (PPNAD). DNA analysis revealed a germline deletion in FH c0.737delT (p. Phe225Leufs*31) and loss of heterozygosity (LOH) in cardiac myxoma. As a functional analysis of FH in cardiac myxoma, low FH protein expression with elevated 2-succinocysteine (2SC), a marker of FH dysfunction, was immunohistochemically detected. However, in adrenocortical tumor, LOH of FH was not detected, and FH or 2SC expression was not altered. Conclusions This is the first case of HLRCC complicated by cardiac myxoma. LOH of FH deletion and its dysfunction were identified in cardiac myxoma. The association between FH deletion and adrenocortical lesion, however, needs to be further clarified.

PurposeHeart myxomas have been frequently considered as benign lesions associated with Carney’s complex. However, after surgical removal, myxomas re-emerge causing dysfunctional heart.MethodsTo identify whether cardiac myxomas may develop a metastatic phenotype as occurs in malignant cancers, a profile of several proteins involved in malignancy such as oncogenes (c-MYC, K-RAS and H-RAS), cancer-associated metabolic transcriptional factors (HIF-1α, p53 and PPAR-γ) and epithelial–mesenchymal transition proteins (fibronectin, vimentin, β-catenin, SNAIL and MMP-9) were evaluated in seven samples from a cohort of patients with atrial and ventricular myxomas. The analysis was also performed in: (1) cardiac tissue surrounding the area where myxoma was removed; (2) non-cancer heart tissue (NCHT); and (3) malignant triple negative breast cancer biopsies for comparative purposes.ResultsStatistical analysis applying univariate (Kruskal–Wallis and Dunn’s tests) and multivariate analyses (PCA, principal component analysis) revealed that heart myxomas (7–15 times) and myxoma surrounding tissue (22–99 times) vs. NCHT showed high content of c-MYC, p53, vimentin, and HIF-1α, indicating that both myxoma and its surrounding area express oncogenes and malignancy-related proteins as occurs in triple negative breast cancer.ConclusionsBased on ROC (receiver operating characteristics) statistical analysis, c-MYC, HIF-1α, p53, and vimentin may be considered potential biomarkers for malignancy detection in myxoma.

The development of left atrial myxoma after coronary artery bypass graft surgery is a rare entity. A 60-year-old man with previous off-pump coronary artery bypass grafting four years ago with patent coronary grafts was diagnosed with left atrial mass. The patient underwent successful resection of the same through minimally invasive right anterolateral thoracotomy. Histopathology of the atrial mass confirmed the diagnosis of atrial myxoma.

Carney complex is a genetic condition in which affected individuals develop benign tumours in various tissues, including the heart. This review examines the genes implicated in the development of cardiac myxomas. Key Points Cardiac myxomas and various non-cardiac neoplasms occur in people who have the autosomal-dominant disorder Carney complex, which is also characterized by spotty pigmentation of the skin and endocrinopathy. Although complete penetrance is the rule, Carney complex shows a highly variable phenotype. Mutations in the chromosome 17q PRKAR1A gene, which encodes the regulatory R1α subunit of protein kinase A (PKA), cause Carney complex in approximately two-thirds of affected individuals. No genotype–phenotype correlation has been established, and most mutations result in PRKAR1A haploinsufficiency through nonsense-mediated degradation of the transcribed, mutant mRNAs. The contributions of loss of heterozygosity of PRKAR1A and increased PKA activity to Carney complex are unclear. Although both can occur in Carney complex tumours, analyses of human and murine tissues demonstrate that neither is required for tumorigenesis. Changes in the ratio of type I to type II PKA isoenzymes are uniform features of human Carney complex tumours, as well as tumours that are found in genetically engineered mouse models of Carney complex. Such PKA isoform switching might mediate altered cell growth and tumorigenesis. Mutation of the chromosome 17p MYH8 gene, which encodes perinatal myosin, results in a rare familial cardiac myxoma syndrome with features that are typical of Carney complex, except that affected individuals also suffer from the hereditary distal arthrogryposis syndrome, trismus–pseudocamptodactyly. The mechanism by which PRKAR1A and MYH8 mutations foster the survival and proliferation of myxoma progenitor cells in the heart remains unknown. Carney complex is a genetic condition in which affected individuals develop benign tumours in various tissues, including the heart. Most individuals with Carney complex have a mutation in the PRKAR1A gene, which encodes the regulatory R1α subunit of protein kinase A — a significant component of the cyclic-AMP signalling pathway. Genetically engineered mutant Prkar1a mouse models show an increased propensity to develop tumours, and have established a role for R1α in initiating tumour formation and, potentially, in maintaining cell proliferation. Ongoing investigations are exploring the intersection of R1α-dependent cell signalling with other gene products such as perinatal myosin, mutation of which can also cause cardiac myxomas.

. Objective: To report our incidence of soft tissue tumors at this site and to discuss various prognostic factors. Methods: All patients with a diagnosis of vulvar soft tissue neoplasms were studied from a prospective database at the Royal Marsden Hospital between January 1985 and July 2001. Results: Seventeen vulvar soft tissue neoplasms (11 malignant and six benign) were treated during this period. Leiomyosarcoma (n = 5) and aggressive angiomyxoma (n = 4) were the most frequent histologic types. According to the grade, there were four G3, three G2, three G1 and could not be assessed in one patient. Local recurrence occurred in six patients with sarcoma (three with high grade and one each with intermediate, low, and undetermined grade). In this group, five patients had negative microscopic margins and one patient had positive microscopic margins on excision. All three women with low‐grade sarcomas are alive without evidence of disease. Three patients with aggressive angiomyxoma also had a local recurrence. Conclusion: Surgical excision is the primary treatment where possible. The grade of the tumor is an important predictor for local recurrence and outcome. Aggressive angiomyxoma is a local problem. Leiomyosarcoma and aggressive angiomyxoma are the most frequent histologic types.

A 20-year-old man was hospitalized for persistent fever, embolism, and syncopal attack. Echocardiography demonstrated a tumor on the mitral posterior leaflet. It was removed under extracoporeal circulation following extirpation of thrombus in the right common iliac artery. The tumor consisted of myxoma and vegetation with bacterial colony. Myxoma and/or vegetation had destroyed the mitral posterior leaflet. Accordingly, it was necessary to perform mitral valve replacement. The postoperative course was uneventful. This is the 14th surgical case of mitral valve myxoma, and the first case of that associated with infective endocarditis.

We report a right atrial myxoma which suddenly developed in a thalassemic patient after allogeneic bone marrow transplantation. The tumor was first detected by echocardiography on day +47 after transplant and the patient underwent surgical removal of the myxoma on day +103. The post-operative course was uneventful, and at more than 3 years from the event, he is alive and well, cured from his congenital disease, with no detectable intra-cardiac tumor. The onset of the myxoma in the early post-transplant period and the extremely high velocity of growth suggest a possible relationship of this condition with the immunosuppressive status.

A mass lesion developed in the right atrium at the site of a trans-septal puncture after percutaneous balloon dilatation of the mitral valve in a man aged 74. The lesion had the pathological appearance of an atrial myxoma and seemed to have developed after trauma to the intra-atrial septum. This case suggests that at least some atrial myxomas are reactive rather than neoplastic in origin.

Background Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome, affecting over 80% of individuals with this condition. This syndrome is characterized by a triad of myxomas, skin pigmentation, and endocrine hyperfunction, featuring multiple endocrine neoplasms with skin and cardiac involvement. Dilated cardiomyopathy, a primary cardiomyopathy, is defined as the dilation and impaired systolic function of the left or both ventricles. Its clinical presentation varies from being asymptomatic to heart failure or sudden cardiac death, making it a leading global cause of heart failure. Currently, Dilated cardiomyopathy has an estimated prevalence of 1/2500–1/250 individuals, predominantly affecting those aged 30–40 years, with a male-to-female ratio of 3:1. This case report describes a heart failure patient with cardiac myxoma caused by Carney syndrome combined with dilated cardiomyopathy. The patient was successfully treated for heart failure by heart transplantation. Case presentation Herein, we report a case of heart failure due to Carney syndrome that resulted in cardiac myxoma combined with dilated cardiomyopathy. A 35-year-old male was admitted to the hospital three years ago because of sudden chest tightness and shortness of breath. Echocardiography indicated myxoma, and a combination of genetic screening and physical examination confirmed Carney syndrome with cardiac myxoma. Following symptomatic management, he was discharged. Surgical interventions were not considered at the time. However, the patient’s chest tightness and shortness of breath symptoms worsened, and he returned to the hospital. A New York Heart Association grade IV heart function was confirmed, and echocardiography indicated the presence of dilated cardiomyopathy accompanied by cardiac myxoma. Ultimately, the patient’s heart failure was successfully treated with heart transplantation. Conclusions Cardiac myxoma caused by Carney syndrome combined with heart failure caused by dilated cardiomyopathy can be resolved by heart transplantation.