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World Journal of Orthopedics Jun 2024Mazabraud's syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma,...
BACKGROUND
Mazabraud's syndrome (MS) is a rare and slowly progressive benign disease characterized by the concurrent presence of fibrous dysplasia of bone and intramuscular myxoma, and is thought to be associated with mutations of the gene. To date, only about 100 cases of MS have been reported in the literature, but its standard treatment strategy remains unclear.
CASE SUMMARY
We report two cases of MS in young women who underwent different treatments based on their symptoms and disease manifestations. The first patient, aged 37, received internal fixation and intravenous bisphosphonate for a pathological fracture of the right femoral neck, excision of a right vastus medialis myxoma was subsequently performed for pain control, and asymptomatic psoas myxomas were monitored without surgery. Genetic testing confirmed a gene mutation in this patient. The second patient, aged 24, underwent right vastus intermedius muscle myxoma resection, and conservative treatment for fibrous dysplasia of the ilium. These patients were followed-up for 17 months and 3 years, respectively, and are now in a stable condition.
CONCLUSION
Various treatments have been selected for MS patients who suffer different symptoms. The main treatment for myxomas is surgical resection, while fibrous dysplasia is selectively treated if the patient experiences pathological fracture or severe pain. However, given the documented instances of malignant transformation of fibrous dysplasia in individuals with MS, close follow-up is necessary.
PubMed: 38947265
DOI: 10.5312/wjo.v15.i6.593 -
Journal of the Korean Association of... Jun 2024This study identifies factors for differential diagnosis among lesions by retrospectively comparing panoramic and cone-beam computed tomography images and analyzing the...
OBJECTIVES
This study identifies factors for differential diagnosis among lesions by retrospectively comparing panoramic and cone-beam computed tomography images and analyzing the characteristics of lesions associated with impacted mandibular third molars (IMTs).
MATERIALS AND METHODS
A retrospective cohort study was conducted in patients who simultaneously underwent IMT extraction surgery and related benign tumor resection or cyst enucleation at our institution from 2017 to 2021. To compare the characteristics of each group, two comparative analyses were conducted. The first comparison considered the most frequently observed lesions associated with IMTs: dentigerous cysts, odontogenic keratocysts (OKCs), and ameloblastoma. The second comparison involved placing dentigerous cysts, which have a relatively low recurrence rate, into group A and placing OKC, ameloblastoma, and odontogenic myxoma, which have high recurrence rates, into group B.
RESULTS
Significant differences in the size of the lesion were found in the order of ameloblastoma, OKC, and dentigerous cyst ( <0.05). The buccolingual width of ameloblastoma differed significantly from that of the other groups, with no significant difference observed between the OKCs and dentigerous cysts (=0.083).
CONCLUSION
Patient age and lesion size differed significantly among lesion types associated with IMTs, with younger age and larger lesions for OKCs and odontogenic tumors. OKCs are likely to have a larger mesiodistal width than dentigerous cysts. The buccolingual width of ameloblastomas was larger than those of dentigerous cysts and OKCs.
PubMed: 38940652
DOI: 10.5125/jkaoms.2024.50.3.153 -
Frontiers in Cardiovascular Medicine 2024Malignant mesothelioma (MM) is a rare and aggressive tumor that is found in the pleura and peritoneum. A few cases of MM in the pericardium and tunica vaginalis testis...
BACKGROUND
Malignant mesothelioma (MM) is a rare and aggressive tumor that is found in the pleura and peritoneum. A few cases of MM in the pericardium and tunica vaginalis testis have been reported. Moreover, primary occurrence in the atrium is extremely rare. The visual appearance of this tumor is similar to that of a common atrial myxoma, which makes it challenging for clinicians and radiologists to diagnose and treat this disease.
CASE DEMONSTRATION
An 18-year-old woman presented with symptoms of chest pain, shortness of breath, cough, and expectoration for 7 days. Echocardiography was performed on the patient, which revealed an atrial mass. Myxoma was one of the differential diagnoses. The tumor was an elliptical mass with tips, and the cut surface was jelly-like, similar to myxoma. After surgery, a pathologic examination of the biopsied tumor confirmed epithelial-type MM. During postoperative follow-up, no recurrence of the tumor was observed.
CONCLUSIONS
MM originating in the atrium is considered to be extremely rare. Consequently, clinicians can easily misdiagnose atrial MM as a myxoma. Moreover, to confirm the diagnosis, histopathologic biopsy, histomorphological characterization, immunohistochemistry, and molecular genetic testing are required. Therefore, clinical diagnosis and treatment of MM are challenging.
PubMed: 38938650
DOI: 10.3389/fcvm.2024.1398311 -
Journal of Cardiothoracic Surgery Jun 2024Cardiac myxomas are the most common type of primary cardiac tumors in adults, but they can have variable features that make them difficult to diagnose. We report two...
BACKGROUND
Cardiac myxomas are the most common type of primary cardiac tumors in adults, but they can have variable features that make them difficult to diagnose. We report two cases of atrial myxoma with calcification or ossification, which are rare pathological subgroups of myxoma.
CASE PRESENTATION
A 47-year-old woman and a 35-year-old man presented to our hospital with different symptoms. Both patients had a history of chronic diseases. Transthoracic and transesophageal echocardiography revealed a mass in the left or right atrium, respectively, with strong echogenicity and echogenic shadows. The masses were suspected to be malignant tumors with calcification or ossification. Contrast transthoracic echocardiography(cTEE) showed low blood supply within the lesions. The patients underwent surgical resection of the atrial mass, and the pathology confirmed myxoma with partial ossification or massive calcification.
CONCLUSION
We report two rare cases of atrial myxoma with calcification or ossification and analyze their ultrasonographic features. Transthoracic echocardiography and cTEE can provide valuable information for the diagnosis and management of such mass. However, distinguishing calcification and ossification in myxoma from calcification in malignant tumors is challenging. More studies are needed to understand the pathogenesis and imaging characteristics of these myxoma variants.
Topics: Humans; Myxoma; Heart Neoplasms; Male; Middle Aged; Calcinosis; Heart Atria; Female; Adult; Ossification, Heterotopic; Echocardiography; Echocardiography, Transesophageal
PubMed: 38926775
DOI: 10.1186/s13019-024-02876-8 -
Oral and Maxillofacial Surgery Jun 2024This study aims to report clinicopathologic and imaging features of odontogenic myxomas (OM), highlighting uncommon findings.
PURPOSE
This study aims to report clinicopathologic and imaging features of odontogenic myxomas (OM), highlighting uncommon findings.
METHODS
Clinicopathologic and imaging data of OMs diagnosed in the five Brazilian diagnostic pathology centers were collected and analyzed.
RESULTS
The series comprised 42 females (68.9%) and 19 males (31.1%), with a 2.2:1 female-to-male ratio and a mean age of 34.5±15.4 years (range: 4-80). Clinically, most OMs presented as painless intraoral swelling (n = 36; 70.6%) in the mandible (n=37; 59.7%). Multilocular lesions (n=30; 83.3%) were more common than unilocular lesions (n=6; 16.7%). There was no statistically significant difference between the average size of unilocular and multilocular OMs (p=0.2431). The borders of OMs were mainly well-defined (n=24; 66.7%) with different degrees of cortication. Only seven tumors caused tooth resorption (15.9%), while 24 (54.5%) caused tooth displacement. Cortical bone perforation was observed in 12 (38.7%) cases. Morphologically, OMs were characterized mainly by stellate or spindle-shaped cells in a myxoid background (n=53; 85.5%). Surgical resection was the most common treatment modality (n=15; 65.2%), followed by conservative surgery (n=8; 34.8%). Outcomes were available in 20 cases (32.3%). Seven of these patients had local recurrence (35%). Enucleation was the treatment with the highest recurrence rate (4/7; 57.1%).
CONCLUSIONS
OM has a predilection for the posterior region of the jaws of female adults. Despite their bland morphological appearance, they displayed diverse imaging features. Clinicians must include the OM in the differential diagnosis of osteolytic lesions of the jaws. A long follow-up is needed to monitor possible recurrences.
PubMed: 38922493
DOI: 10.1007/s10006-024-01271-w -
Cureus May 2024Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as...
Atrial myxomas are benign primary cardiac tumors. They can present with nonspecific symptoms, ranging from constitutional symptoms and embolic phenomena such as transient ischemic attacks (TIAs) or strokes to sudden cardiac death. Early diagnosis may be a challenge due to the nonspecific presentation of atrial myxoma. A high degree of suspicion is needed in patients with TIA having no known cardiovascular risk factors. Although benign, if left untreated, it can lead to serious complications ranging from embolic phenomena and obstructive symptoms to sudden cardiac death. An echocardiogram is of fundamental importance in diagnosing atrial myxoma, and surgical resection is the ultimate treatment of choice. Here, we discuss a case of TIA as the initial presentation of atrial myxoma.
PubMed: 38919224
DOI: 10.7759/cureus.61082 -
Frontiers in Endocrinology 2024Paragangliomas (PGL) are rare neuroendocrine tumors derived from the autonomic nervous system paraganglia. Urinary bladder paragangliomas (UBPGL) originate from the...
BACKGROUND
Paragangliomas (PGL) are rare neuroendocrine tumors derived from the autonomic nervous system paraganglia. Urinary bladder paragangliomas (UBPGL) originate from the sympathetic neurons of the urinary bladder wall and represent 0.7% of all paragangliomas and <0.05% of all bladder tumors. PGL and UBPGL can be associated with gene variants, with the most common germline alterations found in and .
CASE REPORT
We report a case of a 42-year-old woman who presented with menorrhagia/hematuria, uterine leiomyomas, as well as cardiac and bladder masses. The cardiac mass was favored to be a myxoma based on clinical findings, while the bladder mass was diagnosed as UBPGL. A novel mutation (c.642G>A, p Q214Q), detected in the UBPGL, was proven to be somatic. Although this variant was seemingly synonymous, it was predicted to have a loss of function due to the splice site effect, which was further supported by the immunohistochemical loss of .
CONCLUSION
This case highlights the challenges of diagnosing an extremely rare entity, bladder paraganglioma, with an emphasis on the multidisciplinary approach to navigate various clinical and imaging findings that may initially be misleading. In addition, a novel loss of function variant that could have been overlooked as a synonymous variant is herein reported, while also illustrating the importance of both germline and somatic mutation testing.
Topics: Humans; Female; Adult; Urinary Bladder Neoplasms; Paraganglioma; Succinate Dehydrogenase; Mutation
PubMed: 38911036
DOI: 10.3389/fendo.2024.1386285 -
Medical Ultrasonography Jun 2024
Topics: Humans; Heart Neoplasms; Myxoma; Neoplasm Recurrence, Local; Female; Male; Middle Aged; Echocardiography
PubMed: 38909370
DOI: 10.11152/mu-4401 -
JTCVS Techniques Jun 2024
PubMed: 38899078
DOI: 10.1016/j.xjtc.2024.03.002 -
BMC Cardiovascular Disorders Jun 2024Carney syndrome is an uncommon autosomal disorder closely linked to mutations in the PRKAR1A gene. Skin lesions are the most pronounced feature of Carney syndrome,...
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.
Topics: Humans; Cardiomyopathy, Dilated; Male; Carney Complex; Adult; Heart Transplantation; Myxoma; Heart Failure; Heart Neoplasms; Treatment Outcome; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit
PubMed: 38886700
DOI: 10.1186/s12872-024-03946-4