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Pigment Cell & Melanoma Research Oct 2009Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple... (Review)
Review
Initially described as the 'complex of myxomas, spotty skin pigmentation and endocrine overactivity,' Carney complex (CNC) is known as an autosomal dominant multiple neoplasia syndrome involving skin and cardiac myxomas, pigmented skin lesions and endocrine tumors. Pigmented cutaneous manifestations in CNC are important diagnostically because they can be used for the early detection of the disease and, thus, the prevention of life-threatening complications of CNC related to heart myxomas and endocrine abnormalities. Specific for the disease skin lesions are present in more than half of the CNC patients. A major challenge is to distinguish pigmented skin lesions associated with CNC from other skin pathology, and thus accurately estimate the risk of cancer in affected patients; curiously, patients with CNC do not appear to have predisposition to skin cancers whereas this is not the case with other genetic syndromes associated with melanotic and other cutaneous lesions. In this paper, we review the current knowledge on cutaneous pathology associated with CNC and the most recent data on the molecular basis of the disease.
Topics: Humans; Lentigo; Myxoma; Pigmentation Disorders; Signal Transduction; Skin Diseases; Syndrome
PubMed: 19650827
DOI: 10.1111/j.1755-148X.2009.00613.x -
Scientific Reports Jul 2022To describe the presentation, histopathological characteristics, and management outcomes for corneal myxoma. This one-armed cohort study evaluated histologically...
To describe the presentation, histopathological characteristics, and management outcomes for corneal myxoma. This one-armed cohort study evaluated histologically confirmed consecutive cases of corneal myxoma. Data were evaluated on demographics, clinical presentation, management, histopathological and immunohistochemical features, and outcomes; visual acuity and corneal clarity. The study sample was comprised of 10 eyes (10 patients). The median age at presentation was 10.5 years. Five eyes had high intraocular pressure, four eyes had decreased distance visual acuity and one eye became discolored. Surgical management included penetrating keratoplasty (8 eyes), phototherapeutic keratectomy (1 eye), and evisceration because of a blind painful eye (1 eye). Postoperative best-corrected distance vision ranged from 20/20 to 20/60 (1 eye), < 20/60 to 20/200 (2 eyes), < 20/200 to 20/400 (1 eye), < 20/200 to light perception (4 eyes) and no light perception (1 eye). The histopathology of these lesions showed typical subepithelial proliferating spindle-shaped cells of mesenchymal origin within a myxoid stroma rich in glycosaminoglycan. The median duration of follow-up was 5 years. Recurrence was observed in an eye that underwent local excision. Corneal myxoma is a rare lesion that is presumably isolated, secondary, and reactive in nature. Surgically management yields reasonably favorable outcomes.
Topics: Blindness; Cohort Studies; Follow-Up Studies; Humans; Lasers, Excimer; Myxoma; Photorefractive Keratectomy
PubMed: 35778593
DOI: 10.1038/s41598-022-15475-1 -
Brazilian Journal of Cardiovascular... Apr 2021Right ventricular (RV) myxoma that obstructs the RV outflow tract is rare. Multimodality imaging is crucial due to the curved and triangular shape of the RV anatomy....
Right ventricular (RV) myxoma that obstructs the RV outflow tract is rare. Multimodality imaging is crucial due to the curved and triangular shape of the RV anatomy. Incomplete resection by the right atrial approach in cardiac myxomas may be prevented by preoperative imaging with echocardiography, computed tomography and magnetic resonance imaging to provide detailed visualization. Right ventriculotomy may be an alternative approach to the isolated atrial approach to get complete resection of RV myxoma in suitable patients. The preferred surgical treatment is not well defined for ventricular myxomas and careful preoperative planning is essential. Surgical resection should be performed as soon as possible to avoid outflow tract obstruction, which might result in sudden death. The collaboration between cardiologist and heart surgeon and the effective use of imaging tools are essential for successful treatment. In this article, diagnosis and treatment and the heart team approach to RV myxoma are discussed with a demonstrative patient.
Topics: Echocardiography; Heart Atria; Heart Neoplasms; Heart Ventricles; Humans; Myxoma
PubMed: 33355796
DOI: 10.21470/1678-9741-2020-0177 -
Radiology and Oncology Dec 2022Although cardiac myxoma (CM) are rare and benign, they can cause life-threatening complications, such as hemodynamic disturbances or embolization. Surgical excision of...
BACKGROUND
Although cardiac myxoma (CM) are rare and benign, they can cause life-threatening complications, such as hemodynamic disturbances or embolization. Surgical excision of the tumour is the treatment of choice. The aim of the study was to evaluate the epidemiological characteristics, clinical presentation, imaging findings, and outcomes of surgical treatment of patients with CM treated in the largest tertiary care centre in Slovenia.
PATIENTS AND METHODS
We retrospectively analysed the medical records of all patients referred to our institution between January 2005 and December 2020 and identified 39 consecutive adult patients with pathologically confirmed CM.
RESULTS
The average annual incidence of CM in the study was 3 per 2 million population per year. Patients were more often female (n = 25, 64%). The mean age at diagnosis was 63.1 ± 13.6 years. Dyspnoea was the most common presenting symptom (31%). CM was an incidental finding in 11 patients (28%). Seven patients presented with thromboembolic event (18%). Transthoracic echocardiography (TTE) was performed in all patients, however additional imaging was required in 22 patients (56%). All patients in our series were successfully treated surgically without in-hospital mortality. During the follow-up period (6 months to 16 years) three patients (8%) died, and all deaths were unrelated to CM. There was no recurrence of CM during the follow-up.
CONCLUSIONS
Our single-centre study confirms that CM is rare cardiac tumour with diverse clinical presentation. Our data shows data that CM might be more prevalent than considered before. Surgical resection of the tumour is safe with excellent short- and long-term outcomes.
Topics: Adult; Humans; Female; Middle Aged; Aged; Retrospective Studies; Myxoma; Heart Neoplasms; Hospital Mortality; Tertiary Care Centers
PubMed: 36259335
DOI: 10.2478/raon-2022-0041 -
Anatolian Journal of Cardiology Mar 2023Cardiac myxomas are commonly located in the left atrium but rarely affect the right side of the heart. We retrospectively analyzed 28 patients receiving surgical...
BACKGROUND
Cardiac myxomas are commonly located in the left atrium but rarely affect the right side of the heart. We retrospectively analyzed 28 patients receiving surgical treatment for right heart myxomas at our center and aimed to summarize the clinical features and surgical outcomes of right heart myxomas.
METHODS
Between May 2001 and June 2022, 244 patients with sporadic cardiac myxomas underwent complete surgical resection. Twenty-eight patients (28/244, 11.48%) were right heart myxomas. Among the 28 right heart myxoma cases, 25 underwent median sternotomy and 3 underwent robotic or total thoracoscopic procedures. The clinical features, operative information, and follow-up data of right heart myxoma were comprehensively reviewed, and clinical characteristics between right heart myxoma and left heart myxoma were also compared.
RESULTS
A significant difference was noted in sex between right heart myxoma and left heart myxoma (P <.05). Right heart myxoma had a higher asymptomatic rate (17.86% vs. 3.70%, P =.007) and a lower embolization rate (3.57% vs. 30.09%, P =.003) than left heart myxoma. The most common attachment site of right heart myxoma is the atrial septum. The mean operative duration and cardiopulmonary bypass time of right heart myxoma resection were 207.71 ± 53.40 minutes and 63.86 ± 29.73 minutes, respectively, with an in-hospital mortality rate of 3.57%. During the follow-up, 2 patients died of noncardiac causes. The overall 1-, 2-, and 5-year actuarial survival rates after right heart myxoma resection were 95.8%, 90.8%, and 84.7%, respectively.
CONCLUSIONS
As a rare cardiac tumor, the clinical characteristics of right heart myxoma are different from typical left heart myxoma in some aspects, such as sex, asymptomatic rate, and embolization rate. Prompt surgical resection of right heart myxoma gives excellent early and midterm results.
Topics: Humans; Retrospective Studies; Heart Neoplasms; Heart Atria; Myxoma; Treatment Outcome
PubMed: 36856593
DOI: 10.14744/AnatolJCardiol.2022.2585 -
The Pan African Medical Journal 2022Maxillary myxomas are rare benign odontogenic tumors with a high potential for infiltration and destruction. Clinical and radiological manifestations are variable and...
Maxillary myxomas are rare benign odontogenic tumors with a high potential for infiltration and destruction. Clinical and radiological manifestations are variable and non-specific and often lead to confusion with other benign and malignant lesions. We present here two cases of odontogenic myxoma of different localization (maxilla and mandible). In both cases, the patient presented with a progressively enlarging facial swelling without any neurologic disturbance or lymph nodes. On computed tomography, the lesions appeared as a large unilocular, homogeneous image causing a cortical thinning and rupture along with repression of surrounding tissues. The clinical and radiological features were poorly suggestive of precise nature, and only histological examination of biopsy specimen was able to reveal the diagnosis of myxoma. Given the large size of the tumors and the locally aggressive pattern, we have opted for large maxillecetomy and marginal mandibulectomy. In conclusion, myxoma is a slow growing but locally aggressive tumor that the clinician should keep in mind. As there is a lack of consensus regarding their treatment, we can suggest a conservative treatment for small non-extensive lesions, which consists of enucleation and curettage of the tumor; and a radical excision in case of large tumors given the high risk of recurrence.
Topics: Humans; Mandible; Maxilla; Maxillary Neoplasms; Myxoma; Odontogenic Tumors
PubMed: 36034028
DOI: 10.11604/pamj.2022.42.103.34690 -
Reumatologia Clinica 2016Embolic and constitutional manifestations of intracavitary cardiac tumors are included within the classic mimickers of systemic vasculitis, especially in those in which... (Review)
Review
BACKGROUND AND OBJECTIVE
Embolic and constitutional manifestations of intracavitary cardiac tumors are included within the classic mimickers of systemic vasculitis, especially in those in which there are no cardiac manifestations. We present a case report of atrial myxoma in which the patient only presented systemic symptoms and in whom an initial diagnostic approach of systemic vasculitis was made. We also performed a literature search of the cases described.
PATIENT AND METHOD
A case report of atrial myxoma with atypical presentation manifested as a systemic disease with no concomitant cardiac symptoms is described. The case report is discussed and 11 cases of atrial myxoma pseudovasculitis described in the literature are reviewed, emphasizing their similarities and differences.
DISCUSSION
Constitutional symptoms and cutaneous manifestations were the most common. Most of the cases showed partial response to glucococorticosteroid treatment, reinforcing the theory of the inflammatory role in its pathogenesis. Mean delayed time to diagnosis was 12.27 months.
CONCLUSION
Atrial myxoma is a systemic vasculitis mimicker, this being difficult to diagnose in the absence of cardiac manifestations. This delay in diagnosis entails serious complications.
Topics: Delayed Diagnosis; Diagnosis, Differential; Heart Atria; Heart Neoplasms; Humans; Male; Middle Aged; Myxoma; Systemic Vasculitis
PubMed: 25935820
DOI: 10.1016/j.reuma.2015.03.006 -
British Medical Journal Dec 1980
Topics: Echocardiography; Heart Atria; Heart Neoplasms; Humans; Myxoma
PubMed: 7448525
DOI: No ID Found -
Pathology Oncology Research : POR 2024Intramuscular myxomas are benign tumors that are challenging to diagnose, especially on core needle biopsies. Acquired chromosomal aberrations and pathogenic variants...
Intramuscular myxomas are benign tumors that are challenging to diagnose, especially on core needle biopsies. Acquired chromosomal aberrations and pathogenic variants in codon 201 or codon 227 in GNAS complex locus gene () have been reported in these tumors. Here we present our genetic findings in a series of 22 intramuscular myxomas. The tumors were investigated for the presence of acquired chromosomal aberrations using G-banding and karyotyping. Pathogenic variants in codon 201 or codon 227 of were assessed using direct cycle Sanger sequencing and Ion AmpliSeq Cancer Hotspot Panel v2 methodologies. Eleven tumors carried chromosomal abnormalities. Six tumors had numerical, four had structural, and one had both numerical and structural chromosomal aberrations. Gains of chromosomes 7 and 8 were the most common abnormalities being found in five and four tumors respectively. Pathogenic variants in were detected in 19 myxomas (86%) with both methodologies. The detected pathogenic variants were p.R201H in nine cases (seven with abnormal and two with normal karyotypes), p.R201C in five cases, all with normal karyotypes, p.R201S in three cases (two with abnormal and one with normal karyotype), p.R201G in one case with a normal karyotype, and p.Q227E in one case with a normal karyotype. Firstly, our data indicate a possible association between chromosomal abnormalities and pathogenic variants in intramuscular myxomas. Secondly, the presence of the rare pathogenic variants R201S, p.R201G and p.Q227E in 26% (5 out of 19) of myxomas with pathogenic variants shows that methodologies designed to detect only the common "hotspot" of p.R201C and p.R201H will give false negative results. Finally, a comparison between Ion AmpliSeq Cancer Hotspot Panel v2 and direct cycle Sanger sequencing showed that direct cycle Sanger sequencing provides a quick, reliable, and relatively cheap method to detect pathogenic variants, matching even the most cutting-edge sequencing methods.
Topics: Humans; Mutation; Chromosome Aberrations; Muscle Neoplasms; Codon; Myxoma
PubMed: 38317844
DOI: 10.3389/pore.2024.1611553 -
Ear, Nose, & Throat Journal Jun 2015An odontogenic myxoma is a rare, benign tumor that is found almost exclusively in the facial bones, usually the mandible. The diagnosis poses a challenge because its... (Review)
Review
An odontogenic myxoma is a rare, benign tumor that is found almost exclusively in the facial bones, usually the mandible. The diagnosis poses a challenge because its features overlap with those of other benign and malignant neoplasms. We present an unusual case of odontogenic myxoma that involved the maxilla, and we review the clinical, radiographic, and histologic characteristics of this case. Even though it is benign, odontogenic myxoma can be locally invasive and cause significant morbidity. Complete surgical excision is the treatment of choice, but it can be challenging because of the tumor's indistinct margins.
Topics: Adult; Biopsy, Fine-Needle; Humans; Magnetic Resonance Imaging; Male; Maxillary Neoplasms; Myxoma; Tomography, X-Ray Computed
PubMed: 26053984
DOI: 10.1177/014556131509400613