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1.
Medicine (Baltimore) ; 103(10): e37342, 2024 Mar 08.
Article in English | MEDLINE | ID: mdl-38457580

ABSTRACT

RATIONALE: Conjunctival myxoma is a rare benign tumor, which can mimic more common conjunctival lesions such as a cyst, lymphangioma, amelanotic nevus, neurofibroma, amelanotic melanoma, or lipoma. We describe a patient with the conjunctival myxoma, who was initially misdiagnosed as a conjunctival cyst. This case report includes intraoperative photographs and various immunohistochemical staining images. PATIENTS CONCERNS: A 55-year-old woman presented with a painless mass in the superotemporal conjunctiva of the left eye, which she had noticed 1 month ago. The patient had no previous history of trauma or eye surgery. Slit-lamp examination revealed a well-circumscribed, freely movable, pinkish, semi-translucent mass on the temporal bulbar conjunctiva, suggestive of a conjunctival cyst. DIAGNOSES: Histopathological analysis showed stellate- and spindle-shaped cells within the loose myxoid stroma, confirming a diagnosis of conjunctival myxoma. INTERVENTIONS: The conjunctival lesion was completely excised under local anesthesia. OUTCOMES: After 4 months of follow-up, the patient remained in good health without recurrence of the conjunctival lesion and no evidence of any systemic abnormality. LESSONS: Myxoma is an extremely uncommon benign tumor derived from primitive mesenchyme. Considering the rarity of the tumor and its similarity to other conjunctival tumors, diagnosis can be challenging. Ophthalmologists should consider myxoma as a possible differential diagnosis when encountering conjunctival lesions. Surgical excision is essential to confirm the diagnosis and careful systemic evaluation is required to prevent potentially life-threatening underlying systemic conditions.


Subject(s)
Conjunctival Neoplasms , Cysts , Myxoma , Skin Neoplasms , Female , Humans , Middle Aged , Conjunctival Neoplasms/diagnosis , Conjunctival Neoplasms/surgery , Conjunctival Neoplasms/pathology , Myxoma/diagnosis , Myxoma/surgery , Myxoma/pathology , Conjunctiva/pathology
2.
Clin Transl Med ; 14(2): e1581, 2024 02.
Article in English | MEDLINE | ID: mdl-38318640

ABSTRACT

BACKGROUND: Cardiac myxoma (CM) is the most common (58%-80%) type of primary cardiac tumours. Currently, there is a need to develop medical therapies, especially for patients not physically suitable for surgeries. However, the mechanisms that shape the tumour microenvironment (TME) in CM remain largely unknown, which impedes the development of targeted therapies. Here, we aimed to dissect the TME in CM at single-cell and spatial resolution. METHODS: We performed single-cell transcriptomic sequencing and Visium CytAssist spatial transcriptomic (ST) assays on tumour samples from patients with CM. A comprehensive analysis was performed, including unsupervised clustering, RNA velocity, clonal substructure inference of tumour cells and cell-cell communication. RESULTS: Unsupervised clustering of 34 759 cells identified 12 clusters, which were assigned to endothelial cells (ECs), mesenchymal stroma cells (MSCs), and tumour-infiltrating immune cells. Myxoma tumour cells were found to encompass two closely related phenotypic states, namely, EC-like tumour cells (ETCs) and MSC-like tumour cells (MTCs). According to RNA velocity, our findings suggest that ETCs may be directly differentiated from MTCs. The immune microenvironment of CM was found to contain multiple factors that promote immune suppression and evasion, underscoring the potential of using immunotherapies as a treatment option. Hyperactive signals sent primarily by tumour cells were identified, such as MDK, HGF, chemerin, and GDF15 signalling. Finally, the ST assay uncovered spatial features of the subclusters, proximal cell-cell communication, and clonal evolution of myxoma tumour cells. CONCLUSIONS: Our study presents the first comprehensive characterisation of the TME in CM at both single-cell and spatial resolution. Our study provides novel insight into the differentiation of myxoma tumour cells and advance our understanding of the TME in CM. Given the rarity of cardiac tumours, our study provides invaluable datasets and promotes the development of medical therapies for CM.


Subject(s)
Heart Neoplasms , Myxoma , Humans , Tumor Microenvironment/genetics , Endothelial Cells/pathology , Heart Neoplasms/genetics , Heart Neoplasms/pathology , Myxoma/genetics , Myxoma/pathology , RNA , Gene Expression Profiling
4.
Pathol Oncol Res ; 30: 1611553, 2024.
Article in English | MEDLINE | ID: mdl-38317844

ABSTRACT

Introduction: 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 (GNAS) have been reported in these tumors. Here we present our genetic findings in a series of 22 intramuscular myxomas. Materials and methods: 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 GNAS were assessed using direct cycle Sanger sequencing and Ion AmpliSeq Cancer Hotspot Panel v2 methodologies. Results: 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 GNAS 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. Conclusion: Firstly, our data indicate a possible association between chromosomal abnormalities and GNAS 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 GNAS 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 GNAS pathogenic variants, matching even the most cutting-edge sequencing methods.


Subject(s)
Muscle Neoplasms , Myxoma , Humans , Mutation , Chromosome Aberrations , Muscle Neoplasms/genetics , Codon , Myxoma/genetics , Myxoma/pathology
5.
Cardiovasc Pathol ; 69: 107599, 2024.
Article in English | MEDLINE | ID: mdl-38072094

ABSTRACT

Carney syndrome is an autosomal dominant complex involving endocrinopathy, mucocutaneous hyperpigmentation, and different tumors, including cardiac myxomas. We report on a single family with several members affected with Carney syndrome. Family and individual medical histories were investigated in several Canadian provinces. The histology slides were also reviewed. Four family members (two young women, both sisters, their mother, and maternal grandmother) were found to harbor Carney syndrome. Everyone was presented with multiple and recurrent atrial myxomas of the heart, requiring multiple open cardiac surgeries. Breast myxomas and cutaneous hyperpigmentation were also revealed in one of the sisters and their mother. Interestingly, genetic testing was positive for the female family members and negative for the father and brother. We cannot rule out that the brother may have had a new mutation or harboring a mosaic. The young woman's brother did not have cardiac myxoma but developed a unilateral Sertoli cell tumor of testis. Carney syndrome is a rare complex multisystemic genetic disorder, including multiple and recurrent cardiac myxomas. We strongly suggest that reporting familial Carney syndrome is still critical in the 21st century to augment the awareness of this situation among clinicians and pathologists.


Subject(s)
Carney Complex , Heart Neoplasms , Hyperpigmentation , Myxoma , Male , Humans , Female , Carney Complex/pathology , Canada , Myxoma/pathology , Heart Neoplasms/pathology
6.
Cardiol Young ; 34(1): 192-193, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37921210

ABSTRACT

Cardiac tumours are uncommon in the general population and even more so in the paediatric population. Here we present a case of an asymptomatic 7-year-old male with history of high-risk neuroblastoma who underwent 1-year post-treatment surveillance scan with an incidental finding of intracardiac lesion found to be an atrial myxoma.


Subject(s)
Heart Neoplasms , Myxoma , Neuroblastoma , Male , Humans , Child , Incidental Findings , Heart Atria/diagnostic imaging , Heart Atria/pathology , Heart Neoplasms/diagnosis , Heart Neoplasms/surgery , Heart Neoplasms/pathology , Myxoma/diagnosis , Myxoma/surgery , Myxoma/pathology , Neuroblastoma/surgery , Neuroblastoma/pathology
7.
Dis Colon Rectum ; 67(4): 514-522, 2024 Apr 01.
Article in English | MEDLINE | ID: mdl-38100620

ABSTRACT

BACKGROUND: Aggressive angiomyxoma is a very rare mesenchymal tumor most commonly found in the pelvic and perineal regions. Although many are estrogen and progesterone hormone receptor positive, the pathogenesis is unknown. Due to its rarity, there is a paucity of literature relating to this pathology. This article presents a case series on the management of aggressive angiomyxoma of the pelvis. OBJECTIVE: To present a 35-year experience managing aggressive angiomyxoma of the pelvis. DESIGN: This was a retrospective single-system analysis. SETTINGS: This study was conducted at a quaternary referral academic health care system. PATIENTS: All patients treated for aggressive angiomyxoma of the pelvis. INTERVENTIONS: All patients underwent surgical or medical management of their disease. MAIN OUTCOME MEASURES: The primary outcomes were disease recurrence and mortality. Secondary outcomes included risk factors for recurrence. RESULTS: A total of 32 patients (94% women) were identified with a median follow-up of 65 months. Thirty patients (94%) underwent operative resection and 2 patients were treated solely with medical management. Fifteen achieved an R0 resection (negative microscopic margins) at the index operation, of which 4 (27%) experienced tumor recurrence. There were no mortalities. No risk factors for disease recurrence were identified. LIMITATIONS: Limitations to our study include its nonrandomized retrospective nature, single health care system experience, and small patient sample size. CONCLUSIONS: Aggressive angiomyxoma is a rare, slow-growing tumor with locally invasive features and a high potential for recurrence even after resection with negative margins. Imaging modalities such as CT or MRI should be obtained to aid in diagnosis and surgical planning. Workup should be paired with preoperative biopsy and testing for hormone receptor status, which can increase diagnostic accuracy and guide medical treatment. Close posttreatment surveillance is imperative to detect recurrence. See Video Abstract . ANGIOMIXOMA AGRESIVO DE PELVIS EXPERIENCIA DE AOS: ANTECEDENTES:El angiomixoma agresivo es un tumor mesenquimal muy raro que se encuentra más comúnmente en las regiones pélvica y perineal. Aunque muchos son positivos para los receptores hormonales como el estrógeno y la progesterona, la patogénesis es aún desconocida. Debido a su rareza, existe escasa literatura relacionada con esta patología. Este artículo presenta una serie de casos sobre el tratamiento del angiomixoma agresivo de pelvis.OBJETIVO:Presentar una experiencia de 35 años en el manejo del angiomixoma agresivo de pelvis.DISEÑO:Este fue un análisis retrospectivo de sistema único.AJUSTES:Este estudio se llevó a cabo en un sistema de salud académico de referencia de nivel cuaternario.PACIENTES:Todos los pacientes tratados por angiomixoma agresivo de pelvis.INTERVENCIONES:Todos los pacientes se sometieron a tratamiento quirúrgico y/o médico de su enfermedad.PRINCIPALES MEDIDAS DE RESULTADO:Los resultados primarios fueron la recurrencia de la enfermedad y la mortalidad. Los resultados secundarios incluyeron factores de riesgo de recurrencia.RESULTADOS:Se identificaron un total de 32 pacientes (94% mujeres) con una mediana de seguimiento de 65 meses. Treinta (94%) fueron sometidos a resección quirúrgica y dos fueron tratados únicamente con tratamiento médico. Quince lograron una resección R0 (márgenes microscópicos negativos) en la operación inicial, de los cuales cuatro (27%) experimentaron recurrencia tumoral. No hubo mortalidades. No se identificaron factores de riesgo para la recurrencia de la enfermedad.LIMITACIONES:Las limitaciones de nuestro estudio incluyen su naturaleza retrospectiva no aleatoria, la experiencia de un solo sistema de atención médica y el tamaño pequeño de la muestra de pacientes.CONCLUSIONES:El angiomixoma agresivo es un tumor raro, de crecimiento lento, con características localmente invasivas y un alto potencial de recurrencia incluso después de una resección con márgenes negativos. Se deben obtener modalidades de imágenes como CT y/o MRI para la ayuda diagnóstica y la planificación quirúrgica. El estudio debe combinarse con una biopsia preoperatoria y pruebas del estado de los receptores hormonales, que pueden aumentar la precisión del diagnóstico y guiar el tratamiento médico. Es imperativa una estrecha vigilancia posterior al tratamiento para detectar recurrencia. (Traducción-Dr Osvaldo Gauto ).


Subject(s)
Myxoma , Pelvis , Humans , Female , Male , Retrospective Studies , Pelvis/pathology , Perineum/pathology , Magnetic Resonance Imaging , Myxoma/diagnosis , Myxoma/surgery , Myxoma/pathology
8.
BMC Cancer ; 23(1): 1245, 2023 Dec 18.
Article in English | MEDLINE | ID: mdl-38110859

ABSTRACT

BACKGROUND: Cardiac Myxoma is a primary tumor of heart. Its origins, rarity of the occurrence of primary cardiac tumors and how it may be related to limited cardiac regenerative potential, are not yet entirely known. This study investigates the key cardiac genes/ transcription factors (TFs) and signaling pathways to understand these important questions. METHODS: Databases including PubMed, MEDLINE, and Google Scholar were searched for published articles without any date restrictions, involving cardiac myxoma, cardiac genes/TFs/signaling pathways and their roles in cardiogenesis, proliferation, differentiation, key interactions and tumorigenesis, with focus on cardiomyocytes. RESULTS: The cardiac genetic landscape is governed by a very tight control between proliferation and differentiation-related genes/TFs/pathways. Cardiac myxoma originates possibly as a consequence of dysregulations in the gene expression of differentiation regulators including Tbx5, GATA4, HAND1/2, MYOCD, HOPX, BMPs. Such dysregulations switch the expression of cardiomyocytes into progenitor-like state in cardiac myxoma development by dysregulating Isl1, Baf60 complex, Wnt, FGF, Notch, Mef2c and others. The Nkx2-5 and MSX2 contribute predominantly to both proliferation and differentiation of Cardiac Progenitor Cells (CPCs), may possibly serve roles based on the microenvironment and the direction of cell circuitry in cardiac tumorigenesis. The Nkx2-5 in cardiac myxoma may serve to limit progression of tumorigenesis as it has massive control over the proliferation of CPCs. The cardiac cell type-specific genetic programming plays governing role in controlling the tumorigenesis and regenerative potential. CONCLUSION: The cardiomyocytes have very limited proliferative and regenerative potential. They survive for long periods of time and tightly maintain the gene expression of differentiation genes such as Tbx5, GATA4 that interact with tumor suppressors (TS) and exert TS like effect. The total effect such gene expression exerts is responsible for the rare occurrence and benign nature of primary cardiac tumors. This prevents the progression of tumorigenesis. But this also limits the regenerative and proliferative potential of cardiomyocytes. Cardiac Myxoma develops as a consequence of dysregulations in these key genes which revert the cells towards progenitor-like state, hallmark of CM. The CM development in carney complex also signifies the role of TS in cardiac cells.


Subject(s)
Heart Neoplasms , Myxoma , Humans , Transcription Factors/metabolism , Myocytes, Cardiac/physiology , Cell Differentiation/genetics , Heart Neoplasms/genetics , Heart Neoplasms/pathology , Myxoma/genetics , Myxoma/metabolism , Myxoma/pathology , Carcinogenesis/genetics , Carcinogenesis/metabolism , Tumor Microenvironment
9.
J Comp Pathol ; 207: 50-58, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37944473

ABSTRACT

This report documents the pathological features of primary cardiac myxoid tumour (MT) in 11 dogs. Macroscopically, all the tumours were located in the tricuspid valve (TV), its septal leaflet being predominantly affected. Therefore, it appears that the TV is the most common site of occurrence for cardiac MT in dogs. Two gross anatomical types of canine valvular MT were evident. Seven of the 11 tumours were round or oval with a smooth or gently lobulated and glistening surface, while the other four were gelatinous, multilobulated and polypoid, with an irregular surface. Microscopically, in nine cases the tumours had an abundant myxoid matrix within which elongated spindle-shaped cells with no remarkable cytological atypia were sparsely embedded, suggesting a benign character (ie, myxoma). In the other two cases the tumours consisted of variably dense, haphazardly arranged, interlacing streams of anaplastic spindle-shaped or polygonal cells containing many mitotic figures, indicative of a malignant form of myxoma (ie, myxosarcoma). Isolated or clustered collections of myxoma cells (eg, cords, rings, syncytia) characteristic of human atrial myxoma were only rarely evident or lacking in all 11 cases, indicating that rarity or absence of such structural features may be specific to valvular MTs. Immunohistochemical findings were indicative of smooth muscle differentiation of the neoplastic cells. Tumour embolization to the intrapulmonary arteries and/or tumour implantation on the endocardium of the right heart chambers was evident only in the four cases of irregular-surfaced MT.


Subject(s)
Dog Diseases , Heart Neoplasms , Myxoma , Myxosarcoma , Humans , Dogs , Animals , Heart Neoplasms/veterinary , Myxoma/veterinary , Myxoma/pathology , Endocardium/pathology , Myxosarcoma/veterinary
11.
Mult Scler ; 29(13): 1688-1692, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37712415

ABSTRACT

Cortical lesions (CLs) detected with double inversion recovery (DIR) magnetic resonance imaging (MRI) are very helpful in differentiating multiple sclerosis (MS) from other neuroinflammatory diseases of the central nervous system (CNS), that is, neuromyelitis optica spectrum disorders (NMOSDs). Furthermore, CLs are closely related to motor and cognitive impairment. We report a case of a 48-year-old female MS patient who developed several CLs during anti-CD20 therapy. Some CLs disappeared during follow-up MRIs. In the suspicion of a treatment failure, the screening for the autologous hematopoietic stem cell transplant (AHSCT) was performed with the evidence of an atrial myxoma. In MS patients with new CLs, a comorbid ischemic pathology should be considered and carefully investigated.


Subject(s)
Atrial Fibrillation , Multiple Sclerosis , Myxoma , Neuromyelitis Optica , Female , Humans , Middle Aged , Atrial Fibrillation/pathology , Cerebral Cortex/pathology , Multiple Sclerosis/pathology , Neuromyelitis Optica/pathology , Magnetic Resonance Imaging/methods , Myxoma/diagnostic imaging , Myxoma/pathology
12.
J Cutan Pathol ; 50(10): 861-863, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37455589

ABSTRACT

Carney complex is a rare genetic disorder associated with a number of cutaneous lesions, especially cutaneous myxomas. We present a rare case of cutaneous myxoma (superficial angiomyxoma) with trichofolliculoma-like features in a patient with Carney complex, and explore how the associated histopathology provides critical context for elucidating the etiology of this benign neoplasm.


Subject(s)
Carney Complex , Myxoma , Neoplasms, Basal Cell , Skin Neoplasms , Humans , Carney Complex/pathology , Myxoma/pathology , Skin Neoplasms/pathology , Rare Diseases
13.
J Cardiothorac Surg ; 18(1): 143, 2023 Apr 17.
Article in English | MEDLINE | ID: mdl-37069679

ABSTRACT

A 33-year male patient presented with a 6-month history of cough and shortness of breath upon physical activity. Echocardiography demonstrated right ventricular space-occupying lesions. Contrast-enhanced computed tomography of the chest showed multiple emboli in the pulmonary artery and its branches. Right ventricle tumor (myxoma) resection, tricuspid valve replacement, and clearance of the pulmonary artery thrombus were performed under cardiopulmonary bypass. Minimally invasive forceps and balloon urinary catheters were used to clear the thrombus. Clearance was confirmed by direct visualization using a choledochoscope. The patient recovered well and was discharged. The patient was prescribed oral warfarin 3 mg/day, and the international normalized ratio for prothrombin time was maintained between 2.0 and 3.0. Pre-discharge echocardiogram showed no lesion in the right ventricle or pulmonary arteries. The 6-month follow-up echocardiography indicated that the tricuspid valve was functioning well and showed no thrombus in the pulmonary artery.


Subject(s)
Heart Neoplasms , Myxoma , Pulmonary Embolism , Thrombosis , Humans , Male , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/etiology , Pulmonary Embolism/surgery , Heart Neoplasms/surgery , Pulmonary Artery/pathology , Heart Ventricles , Thrombosis/diagnostic imaging , Thrombosis/etiology , Thrombosis/surgery , Myxoma/complications , Myxoma/surgery , Myxoma/pathology
15.
BMC Cardiovasc Disord ; 23(1): 219, 2023 04 28.
Article in English | MEDLINE | ID: mdl-37118677

ABSTRACT

BACKGROUND: Primary cardiac tumors are rare, and cardiac myxoma (CM) accounts for the majority of these tumors. Most of the reports in the literature are case reports. This study summarizes our clinical experience in the surgical treatment of CM over the past 12 years. METHODS: We retrospectively analyzed the clinical data of 23 children with CM(8 boys, 15 girls; median age: 8.92 months, range: 2 years 5 months-12 years 9 months; body weight: 11-45 kg, median body weight: 28.21 kg) admitted to our hospital in the previous 12 years, and we statistically analyzed their clinical manifestations and surgical methods. RESULTS: 23 cases underwent myxoma excision under cardiopulmonary bypass(CPB). The follow-up period was 0.2 to 12.6 years (mean:7.2 years). Two patients could not be traced, and the follow-up completion rate was 91.30%. One patient (4.35%) died of myocardial infarction early after surgery with low continuous cardiac output. There were no cerebral embolism, acute heart failure, atrioventricular block and other related complications in 19 cases. A patient with cerebral infarction complicated with right hemiplegia recovered well after rehabilitation treatment. There was no recurrence of CM in 19 cases and all patients recovered after surgery. One patient relapsed 5 years after surgery, and no tumor recurrence was observed after the second surgery. Among the 20 long-term survivors, 13 (65.00%) were NYHA Class I patients and 7(35.00%) were NYHA Class II patients. CONCLUSIONS: Although CM in children is rare, it may cause cerebral infarction and other multi-organ embolism. Once CM is found and removed as soon as possible, it can reduce serious complications. If the complete resection is possible, surgery provides better palliation. Follow-up echocardiographic should be paid attention to after surgery.


Subject(s)
Embolism , Heart Neoplasms , Myxoma , Male , Female , Humans , Child , Infant , Retrospective Studies , Neoplasm Recurrence, Local , Heart Neoplasms/diagnostic imaging , Heart Neoplasms/surgery , Heart Neoplasms/pathology , Myxoma/diagnostic imaging , Myxoma/surgery , Myxoma/pathology , Body Weight
16.
World J Surg Oncol ; 21(1): 99, 2023 Mar 20.
Article in English | MEDLINE | ID: mdl-36941612

ABSTRACT

BACKGROUND: Cardiac myxoma is the most common type of primary cardiac tumor, with the majority located in the atrial wall. The tumor is attached to valvular structures in a few cases, of which the pulmonary valve is the least affected. Pulmonary valve myxoma may have different clinical manifestations from the more common cardiac myxomas because of its vital position. A misdiagnosis of these types of cardiac myxoma may be detrimental to the care and well-being of patients. Therefore, this systematic review aims to define the clinical characteristics of pulmonary valve myxoma and how this differs from a more common cardiac myxoma. METHODS: Employed literature was obtained from PubMed, ScienceDirect, Scopus, Springer, and ProQuest without a publication year limit on August 23, 2022. The keyword was "pulmonary valve myxoma." Inclusion criteria were as follows: (1) case report or series, (2) available individual patient data, and (3) myxoma that is attached to pulmonary valve structures with no evidence of metastasis. Non-English language or nonhuman subject studies were excluded. Johanna Briggs Institute checklists were used for the risk of bias assessment. Data are presented descriptively. RESULTS: This review included 9 case reports from 2237 articles. All cases show a low risk of bias. Pulmonary valve myxoma is dominated by males (5:4), and the patient's median age is 57 years with a bimodal distribution in pediatric and geriatric populations. The clinical manifestation of pulmonary valve myxoma is often unspecified or asymptomatic. However, systolic murmur in the pulmonary valve area is heard in 67% of cases. Echocardiography remains the diagnostic modality of choice in the majority of cases. Tumor attached to the pulmonary cusps or annulus and extended to adjacent tissues in all cases. Therefore, valve replacement or adjacent tissue reconstructions are required in 77% of cases. The recurrence and mortality are considerably high, with 33% and 22% cases, respectively. CONCLUSIONS: Pulmonary valve myxoma is more common in males with a bimodal age distribution, and its outcomes seem worse than usual cardiac myxomas. Increasing awareness of its clinical symptoms, early diagnosis, and complete myxoma resection before the presence of congestive heart failure symptoms are important in achieving excellent outcomes. A firm embolization blockade is needed to prevent myxoma recurrence.


Subject(s)
Heart Neoplasms , Myxoma , Pulmonary Valve , Male , Humans , Child , Aged , Middle Aged , Pulmonary Valve/surgery , Pulmonary Valve/pathology , Echocardiography , Heart Neoplasms/diagnosis , Heart Neoplasms/surgery , Myxoma/diagnosis , Myxoma/surgery , Myxoma/pathology , Heart Atria/pathology
17.
Am J Surg Pathol ; 47(3): 296-306, 2023 03 01.
Article in English | MEDLINE | ID: mdl-36607731

ABSTRACT

Superficial angiomyxoma is an uncommon benign mesenchymal neoplasm that usually arises in dermis/subcutis of the extremities or trunk. Some tumors are associated with Carney complex. When arising in breast, these tumors are not well-recognized, mainly due to a lack of uniform nomenclature in the literature. This study therefore aims to improve recognition of angiomyxomas of the breast region. Forty cases were identified: demographics, presence of Carney complex, imaging and histologic features, PRKAR1A expression, and outcomes were evaluated. There were 22 female and 18 male patients (median age 40 years, range: 14 to 72). Most tumors presented as slowly-growing masses (77%). All but one were solitary, and median size was 1.5 cm. Tumors were superficial (dermal/subcutaneous) in 52.5% and deep/parenchymal in 47.5%. Nine involved the nipple-areola complex. All showed characteristic features of superficial angiomyxoma: poorly circumscribed, hypocellular, myxoid neoplasms with lobulated (55%) or infiltrative (45%) architecture, bland spindled fibroblasts, prominent thin-walled vessels, and admixed neutrophils. Tumors involving the nipple-areola complex infiltrated through areolar smooth muscle, and deep/parenchymal tumors showed entrapment of lobules mimicking myxoid fibroadenoma. Mitoses were typically absent, as was significant atypia. Cystic change was common. Two-thirds showed loss of PRKAR1A expression by immunohistochemistry. Two patients had Carney complex (7%). Recurrence after incomplete excision occurred in 1 patient. Angiomyxoma of breast may arise at superficial, nipple-areola or deep/parenchymal locations, where it can be difficult to recognize classic histologic features. Loss of expression of PRKAR1A is not invariable, but may be a helpful diagnostic clue. Recognizing angiomyxoma is important for 2 reasons: first, the recurrence rate is low and therefore wide excision is not essential, and second, it may allow detection of Carney complex in some patients.


Subject(s)
Breast Neoplasms , Carney Complex , Myxoma , Humans , Male , Female , Adult , Immunohistochemistry , Myxoma/pathology , Mitosis
19.
Lasers Med Sci ; 38(1): 38, 2023 Jan 11.
Article in English | MEDLINE | ID: mdl-36630018

ABSTRACT

It was to report a rare case of peripheral odontogenic myxoma removed with high-power diode laser and to do an extensive review of studies of odontogenic cysts and tumors treated with high-power laser (HPL). This is a rare case of a 63-year-old male patient with a peripheral odontogenic myxoma measuring approximately 10 cm in the attached gingiva region of tooth 16 removed with a high-power diode laser (808 nm, 3 W, in continuous mode, under constant suction, with 400-µm optical fiber). A literature review was also carried out looking for articles that involved the use of HPL in the treatment of odontogenic cysts and tumors, without restriction of year or language. In the present case, there was no need for suturing, no postoperative discomfort, and minimal bleeding during the procedure. In a 12-month follow-up period, there were no signs of recurrence. Only two cases of intra-osseous odontogenic myxomas treated with HPL and 10 cases involving other odontogenic cysts and tumors were found. All studies showing HPL to be effective in treating these lesions. Despite the different types of lasers used and different parameters, it is observed that lasers are effective in the treatment of odontogenic lesions.


Subject(s)
Myxoma , Odontogenic Tumors , Male , Humans , Middle Aged , Lasers, Semiconductor/therapeutic use , Myxoma/surgery , Myxoma/diagnosis , Myxoma/pathology , Odontogenic Tumors/radiotherapy , Odontogenic Tumors/surgery , Odontogenic Tumors/diagnosis
20.
J Neurol Sci ; 444: 120517, 2023 01 15.
Article in English | MEDLINE | ID: mdl-36528975

ABSTRACT

BACKGROUND: Cardiac myxoma (CM) is an important etiology of stroke in young adults, but studies on CM-related ischemic stroke (CM-IS) are limited and conflicting. Hence, we investigated clinical characterizations, risk factors of CM-IS, and short-term survival after surgical resection. METHODS: We performed a retrospective analysis of data from all CM patients at three referral management centers and conducted follow-up examination. RESULTS: Among 414 CM patients, 402 were recruited for further analysis, including 54 patients with CM-IS and 348 patients with CM without stroke (Non-stroke). In the acute phase, patients presented with NIHSS 3 (interquartile range: 0-10) and clinical presentation comprising neurological, cardiac and constitutional symptoms. Multivariate analysis showed that the factors associated with an increased risk of CM-IS were tumor width < 30 mm [OR = 2.652, 95% CI: 1.061-6.627, P = 0.037], tumors with high-mobility (OR = 2.700, 95% CI: 1.357-5.371, P = 0.005), thrombus on the tumor surface (OR = 1.856, 95% CI: 1.003-3.434, P = 0.049), and lower B-type natriuretic peptide (BNP) levels (OR = 0.995, 95% CI: 0.989-0.999, P = 0.047). The overall three-year survival rate was 95.7% (95% CI: 94.9-96.5) in CM-IS patients who underwent surgery. CONCLUSIONS: CM-IS patients had mild or moderate neurologic deficits with various presentations at disease onset. Narrower tumor width, tumors with high-mobility, thrombus on the tumor surface, and lower BNP levels are potential predictors of CM-IS development. Surgical removal of CM is safe and efficacious in patients with CM-IS.


Subject(s)
Ischemic Stroke , Myxoma , Stroke , Thrombosis , Young Adult , Humans , Retrospective Studies , Case-Control Studies , Natriuretic Peptide, Brain , Stroke/etiology , Stroke/surgery , Stroke/diagnosis , Risk Factors , Myxoma/complications , Myxoma/surgery , Myxoma/pathology , Thrombosis/complications
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