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1.
Cardiovasc Pathol ; 49: 107264, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32805552

RESUMO

We report a 60-year-old male with fibrin-associated diffuse large B-cell lymphoma (fa-DLBCL) in left atrial myxoma. Echocardiography showed a mass (63 mm × 33 mm) in the left atrium. Histological inspection indicated fa-DLBCL on the surface of atrial myxoma incidentally, together with extensive fibrinous like exudation on myxoma surface. Malignant cells were localized in solid sheets and nests at the peripheral area of the fibrinous exudation which were positive for B-lineage markers (CD20+, CD79a+, PAX-5+) and in situ hybridization of EBV-encoded RNA (EBER). PCR amplification showed clonal rearrangement of immunoglobulin heavy chain (IgH) genes. The patient was still alive with no recurrence in the 35-month follow-up after surgery. We also did a detailed clinicopathological analysis and literature review, which indicated that fa-DLBCL was a heterogeneous entity.


Assuntos
Biomarcadores Tumorais/análise , Fibrina/análise , Neoplasias Cardíacas/patologia , Linfoma Difuso de Grandes Células B/patologia , Mixoma/patologia , Biomarcadores Tumorais/genética , Genes de Cadeia Pesada de Imunoglobulina , Neoplasias Cardíacas/química , Neoplasias Cardíacas/cirurgia , Herpesvirus Humano 4/genética , Humanos , Linfoma Difuso de Grandes Células B/química , Linfoma Difuso de Grandes Células B/cirurgia , Linfoma Difuso de Grandes Células B/virologia , Masculino , Pessoa de Meia-Idade , Mixoma/química , Mixoma/cirurgia , RNA Viral/genética , Resultado do Tratamento
2.
Cardiovasc Pathol ; 49: 107244, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32652483

RESUMO

Cardiac myxoma is a rare benign neoplasm of the heart. Historically myxomas were incidental findings during autopsies, however improved imaging techniques made these diagnosis possible in living patients, making the surgical treatment of these neoplasms achievable. Cardiac myxomas may occur both sporadically and in a familial context, often in the clinico-pathological picture of the Carney complex. While familial myxomas occur in the context of well-known genetic mutations, the molecular etiology of sporadically occurring myxomas is still not completely clear. We must note however that many of the patients affected by myxomas are asymptomatic; when symptoms are present they are often nonspecific and hard to decipher, especially when referring to sporadically occurring heart myxomas. In this paper we describe a case of sudden death from the massive embolization of a left atrial cardiac myxoma. We also reviewed all the cases in the literature of sudden death from heart myxoma embolism. An accurate epidemiology of heart myxomas would be the key to outline the best treatment practices and the etiology of sporadic myxomas, nevertheless this target could only be pursued with a deep revaluation of the clinical autopsy as a fundamental diagnostic tool.


Assuntos
Morte Súbita/etiologia , Embolia/etiologia , Neoplasias Cardíacas/complicações , Mixoma/complicações , Células Neoplásicas Circulantes/patologia , Adulto , Autopsia , Biópsia , Causas de Morte , Morte Súbita/patologia , Embolia/patologia , Evolução Fatal , Neoplasias Cardíacas/patologia , Humanos , Masculino , Mixoma/patologia
3.
J Card Surg ; 35(10): 2863-2865, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-32720392

RESUMO

BACKGROUND: Cardiac myxomas are common and account for 50% of primary intracardiac tumors. Atypical locations of cardiac myxoma increase the risk of intraoperative iatrogenic injuries. Herein, we report a case of using three-dimensional printing (3D) to facilitate the removal of an atypical cardiac myxoma in a 63-year-old woman. METHODS AND RESULTS: Mass in the high posterior atrial septum was confirmed through imaging. Due to the potential involvement of the mass to surrounding vital structures, 3D printing of the cardiac mass was performed. The tumor was completely resected via median sternotomy and the resulting defect was repaired with the bovine pericardium. The patient had an uncomplicated postoperative course except for the development of sick sinus syndrome. One-year follow-up showed no tumor recurrent. CONCLUSION: 3D printing technology in patients with atypical cardiac tumors enhances our understanding of the extent of the tumor invasion and facilitates planning the operation to avoid intraoperative complications.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgia , Doença Iatrogênica/prevenção & controle , Complicações Intraoperatórias/prevenção & controle , Modelos Anatômicos , Mixoma/diagnóstico por imagem , Mixoma/cirurgia , Impressão Tridimensional , Animais , Bioprótese , Bovinos , Feminino , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/patologia , Átrios do Coração/cirurgia , Neoplasias Cardíacas/patologia , Septos Cardíacos/diagnóstico por imagem , Septos Cardíacos/cirurgia , Humanos , Pessoa de Meia-Idade , Mixoma/patologia , Invasividade Neoplásica , Pericárdio/transplante , Esternotomia/métodos , Tomografia Computadorizada por Raios X , Resultado do Tratamento
4.
Oncol Res Treat ; 43(6): 314-322, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32450554

RESUMO

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.


Assuntos
Fibrossarcoma/patologia , Mixoma/patologia , Biomarcadores Tumorais/antagonistas & inibidores , Biomarcadores Tumorais/genética , Biomarcadores Tumorais/metabolismo , Fibrossarcoma/genética , Fibrossarcoma/metabolismo , Fibrossarcoma/terapia , Humanos , Imunoterapia/métodos , Terapia de Alvo Molecular/métodos , Mutação , Mixoma/genética , Mixoma/metabolismo , Mixoma/terapia , Microambiente Tumoral
5.
Br J Radiol ; 93(1111): 20200255, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32401545

RESUMO

OBJECTIVE: To evaluate the imaging characteristics of aggressive angiomyxoma (AA) and identify features which would help to differentiate it from similar appearing lesions. METHODS: A retrospective review of departmental records was done and cases where AA was suspected on CT or MRI were included. With histopathology as gold-standard, the cases were grouped into AA or mimics and differentiating features were identified on USG, CT and MRI. Fischer's exact test was applied for the statistical significance of the differentiating features. RESULTS: 18 patients were identified of which 2 were excluded for lack of histopathology records. 10 were AA and 6 mimics which included 2 fibromatoses, 2 neurogenic tumors, and 1 each of germ cell tumor and inflammatory myofibroblastic tumor. On MRI, all AA showed T2 hyperintensity and intense contrast enhancement with characteristic laminated pattern in 7/9 cases. Diffusion restriction was seen in 2/3 cases, cystic component in 4/10 and hemorrhage in 1/10 cases. Pelvic fibromatosis was the closest imaging differential showing laminated pattern in one of the cases. CONCLUSION: Large pelvic mass with abdominal/perineal extension in reproductive age female patient should lead to suspicion of AA. Laminated pattern on T2 weighted images and intense homogeneous contrast enhancement further add to the diagnostic confidence. ADVANCES IN KNOWLEDGE: This study for the first time describes radiological mimics of AA. Large cystic component, diffusion restriction, hemorrhage and organ infiltration have not been previously described in AA.


Assuntos
Mixoma/patologia , Neoplasias Pélvicas/patologia , Neoplasias Abdominais/patologia , Adolescente , Adulto , Diagnóstico Diferencial , Feminino , Humanos , Imagem por Ressonância Magnética , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores , Períneo , Estudos Retrospectivos , Adulto Jovem
7.
Arch Gynecol Obstet ; 302(1): 219-229, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32430760

RESUMO

PURPOSE: Aggressive angiomyxoma (AAM) is a rare and often misdiagnosed tumor that is characterized by frequent local recurrences. This study aimed to investigate the clinicopathological characteristics, surgical experiences, and prognosis for aggressive angiomyxoma to improve the accuracy of diagnosis and develop treatment strategies for decreasing recurrence rates. METHODS: Clinicopathological data and follow-up information for 27 patients with AAM diagnosed and treated at the Shengjing Hospital of China Medical University between January 2006 and October 2019 were retrospectively analyzed. RESULTS: The median age at disease onset among 27 patients was 39 years. The male to female ratio was 1:4.4. Painless and slow-growing mass was the most common symptom. Masses occurring in the perineum and pelvic cavity accounted for 81.5% (22/27). All of the 27 patients underwent surgical treatment. Surgical approaches included transperineal and transvaginal resection. Large pelvic masses were treated with combined abdominoperineal surgery. The postoperative recurrence rate was 37%. Kaplan-Meier survival analysis revealed that 5-year progression-free survival (PFS) rate was 64.4% and the median PFS was 132.0 ± 29.6 (95% CI 72.9-190.1). Multivariate Cox proportional analysis found that surgical margin is an independent prognostic factor for PFS (P = 0.018). None of the patients experienced distant metastasis. CONCLUSIONS: Clinical manifestations of AAM are non-specific. Laboratory testing, imaging examinations, and immunohistochemistry are helpful for diagnosis and differential diagnosis. Surgical approach can be determined according to the relationship between the tumor and adjacent organs and infiltration degree. The development of personalized treatment strategies should aim to achieve a complete resection on the premise of preserving the structure and function of important organs to maintain patient quality of life.


Assuntos
Mixoma/diagnóstico , Adulto , Feminino , Humanos , Masculino , Mixoma/patologia , Prognóstico , Estudos Retrospectivos , Inquéritos e Questionários , Centros de Atenção Terciária , Fatores de Tempo
8.
Pediatr Pulmonol ; 55(6): E1-E3, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32243731

RESUMO

Cardiac myxomas are rare occurrences in pediatric populations, as are pulmonary artery aneurysms. We report a 17-year-old adolescent with right atrial cardiac myxoma and concomitant multiple peripheral pulmonary artery aneurysms. Histological examination indicated infiltration of the pulmonary artery wall through the embolic cardiac myxoma cells, thereby weakening it. This report highlights the probable causal relationship between these two entities, proposes the possible pathomechanism and presents the diagnostic and therapeutic dilemmas in the management of this condition.


Assuntos
Aneurisma/complicações , Neoplasias Cardíacas/complicações , Mixoma/complicações , Artéria Pulmonar/patologia , Adolescente , Aneurisma/patologia , Neoplasias Cardíacas/patologia , Humanos , Masculino , Mixoma/patologia
9.
J Stroke Cerebrovasc Dis ; 29(6): 104796, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32220555

RESUMO

We administered intravenous thrombolytic therapy to a 51-year-old female patient with a 101-min stroke onset. The patient was unconscious during the manifestation of symptoms. Computed tomography angiography examination of the intracranial artery at the time of admission suggested that the left middle cerebral artery was occluded. The patient regained consciousness after the intravenous thrombolytic treatment was administered. On an urgent cerebral angiography, it was revealed that the recanalization of the left middle cerebral artery was successful. Although blood perfusion was restored, occlusion of the distal blood flow remained. The symptoms of the patient gradually improved after the treatment. However, 6 months after the onset of the condition, intracranial aneurysms formed distal to the recanalized arteries that were previously embolized. The full process underlying the development of cerebral embolism caused by atrial myxomas and subsequent formation of aneurysms is illustrated in this patient. Although the underlying mechanism remains unclear, intravenous thrombolysis can successfully restore cerebral blood flow in and may improve the prognosis of patients with cerebral embolism caused by cardiac myxoma. Despite the positive revascularization therapy, the occurrence of the complication of intracranial aneurysms is possible. Long-term follow-up to evaluate the progression of myxomatous aneurysms after cerebral embolism with conservative treatment may be a suitable strategy for managing such patients.


Assuntos
Fibrinolíticos/administração & dosagem , Neoplasias Cardíacas/complicações , Infarto da Artéria Cerebral Média/tratamento farmacológico , Aneurisma Intracraniano/etiologia , Embolia Intracraniana/etiologia , Mixoma/complicações , Células Neoplásicas Circulantes/patologia , Terapia Trombolítica , Ativador de Plasminogênio Tecidual/administração & dosagem , Administração Intravenosa , Feminino , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Humanos , Infarto da Artéria Cerebral Média/diagnóstico por imagem , Infarto da Artéria Cerebral Média/etiologia , Aneurisma Intracraniano/diagnóstico por imagem , Aneurisma Intracraniano/patologia , Embolia Intracraniana/diagnóstico por imagem , Embolia Intracraniana/patologia , Pessoa de Meia-Idade , Mixoma/patologia , Mixoma/cirurgia , Fatores de Risco , Resultado do Tratamento
10.
Adv Exp Med Biol ; 1226: 51-56, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32030675

RESUMO

Cardiac tumors are found in less than 1% of adult and pediatric autopsies. More than three-fourths of primary cardiac neoplasms are benign, with myxomas and rhabdomyomas being the most common cardiac tumors seen in adults and children, respectively. Primary malignant cardiac tumors are extremely rare, whereas metastatic lesions can be seen in approximately 8% of patients dying from cancer. Attempting to understand why the heart is so resistant to carcinogenesis and which fail-safe mechanisms malfunction when cardiac tumors do develop is particularly challenging considering the rarity of these tumors and the fact that when relevant clinical studies are published, they rarely focus on molecular pathogenesis. Apart from cancer cells, solid tumors are comprised of a concoction of noncancerous cells, and extracellular matrix constituents, which along with pH and oxygen levels jointly constitute the so-called tumor microenvironment (TME). In the present chapter, we explore mechanisms through which TME may influence cardiac carcinogenesis.


Assuntos
Carcinogênese , Neoplasias Cardíacas/patologia , Microambiente Tumoral , Humanos , Mixoma/patologia , Rabdomioma/patologia
11.
J Neuropathol Exp Neurol ; 79(3): 347-351, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-32016322

RESUMO

Angiomatoid fibrous histiocytoma (AFH) is a rare soft tissue tumor that arises primarily in the extremities of young adults. Recurrent gene fusions involving EWSR1 with members of the cAMP response element binding protein (CREB) family have been reported in a diverse group of tumors, including AFH. AFH-like lesions have been reported to occur intracranially and the reported cases show low proliferation indices, frequently have a connection with the dura, and show recurrent EWSR1 rearrangements. These tumors have been termed intracranial myxoid mesenchymal tumor with EWSR1-CREB family gene fusions. A literature search identified 11 reported cases of intracranial AFH-like lesions with an EWSR1 rearrangement. Here, we report a case of intracranial myxoid mesenchymal tumor with an EWSR1-ATF1 fusion in an adult patient, and review the existing literature on this recently described entity.


Assuntos
Fator 1 Ativador da Transcrição/genética , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Células-Tronco Mesenquimais/patologia , Mixoma/genética , Mixoma/patologia , Proteína EWS de Ligação a RNA/genética , Idoso , Fusão Gênica , Histiocitoma Fibroso Maligno/genética , Histiocitoma Fibroso Maligno/patologia , Humanos , Masculino
12.
J Med Case Rep ; 14(1): 29, 2020 Feb 13.
Artigo em Inglês | MEDLINE | ID: mdl-32051024

RESUMO

BACKGROUND: Atrial myxoma remains a rare clinical entity with an incidence of surgically resected cases of 0.5-0.7 per million population and prevalence of < 5 per 10,000. It typically manifests in woman after third decade of life; symptoms vary greatly and may present with arrhythmia, intracardiac flow obstruction, embolic phenomenon, and associated constitutional symptoms. Neurological complications associated with atrial myxoma most frequently include cerebral infarct due to embolus. Cerebellar involvement is very rare and only a few cases have been reported in the literature. CASE PRESENTATION: A 55-year-old Brahmin man with no history of diabetes mellitus and hypertension, presented with complaints of dizziness, headache, vomiting, double vision, and unsteadiness of gait for 2 weeks. His headache was sudden in onset, of a pulsating type and localized on left temporal side. Vomiting was projectile and bilious. Double vision was present in all directions of gaze and he had uncoordinated movement of his body and tilting to the left side. On examination, his cerebellar functions were impaired. He was thoroughly investigated for the cause of stroke after abnormal magnetic resonance imaging results with normal computed tomography angiography of his brain. Echocardiography and computed tomography of his chest showed a mass attached to intra-atrial septum and prolapsing through mitral valve, which was suggestive of left atrial myxoma. Five days following admission, he developed abdominal pain due to thromboembolism causing splenic and renal infarct. CONCLUSION: Although rare, atrial myxoma has to be considered a cause of stroke and other embolic phenomenon causing multiorgan infarctions. Early and timely diagnosis of the condition can prevent further recurrence and inappropriate anticoagulant therapy. It would be pertinent to have echocardiography done in patients who present with a stroke, arrhythmias, and other constitutional symptoms. The tumor once detected must be removed surgically as early as possible, which not only reduces serious thromboembolic complications but can be potentially curative.


Assuntos
Neoplasias Cardíacas/cirurgia , Mixoma/cirurgia , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/patologia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Mixoma/complicações , Mixoma/diagnóstico por imagem , Mixoma/patologia , Infarto do Baço/diagnóstico por imagem , Infarto do Baço/etiologia , Infarto do Baço/patologia , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/etiologia
13.
World Neurosurg ; 134: e1053-e1061, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31760186

RESUMO

OBJECTIVE: Lesions affecting the sciatic nerve (SN) can mimic lumbar radiculopathy. In patients presenting with sciatica, approximately 10% have a nondiscogenic etiology. Through neurological examination and imaging, it may be possible to confirm nondiscogenic sciatica (NDS). This study aims to present a series of 6 patients with infragluteal NDS, highlighting clinical and imaging aspects that may suggest this diagnosis. METHODS: This is a retrospective study of 6 patients treated for NDS from 2010 to 2018. The mean and median ages were 41.2 and 38.5 years, respectively, with all patients female. RESULTS: All patients presented with sciatic pain, tenderness to deep infragluteal palpation, and a positive Tinel's sign related to the SN. Four patients were referred for surgical treatment, whereas 1 underwent pharmacological therapy and 1 underwent incisional biopsy and radiotherapy. In our series, 6 different causes for NDS were diagnosed: 1 nontumorous cause: extrauterine endometriosis and 5 tumors: metastasis from rectal adenocarcinoma, low-grade sarcoma, schwannoma, high-grade sarcoma, and myxoma. CONCLUSIONS: Differentiating between discogenic and NDS can be challenging for clinicians. When patients present with sciatic pain, a Tinel's sign related to the SN elicited at the deep infragluteal region, tenderness to deep infragluteal palpation, occasionally with an SN motor deficit and imaging findings of the lumbar spine that do not justify a discogenic source, the cause should be considered nondiscogenic and they should be scheduled for magnetic resonance imaging of the gluteal and pelvic region.


Assuntos
Adenocarcinoma/secundário , Endometriose/diagnóstico por imagem , Mixoma/diagnóstico por imagem , Neurilemoma/diagnóstico por imagem , Neoplasias do Sistema Nervoso Periférico/diagnóstico por imagem , Neoplasias Retais/patologia , Sarcoma/diagnóstico por imagem , Ciática/etiologia , Adenocarcinoma/complicações , Adenocarcinoma/diagnóstico por imagem , Adulto , Endometriose/complicações , Endometriose/patologia , Feminino , Humanos , Imagem por Ressonância Magnética , Mixoma/complicações , Mixoma/patologia , Neurilemoma/complicações , Neurilemoma/patologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/patologia , Neoplasias do Sistema Nervoso Periférico/complicações , Neoplasias do Sistema Nervoso Periférico/patologia , Exame Físico , Estudos Retrospectivos , Sarcoma/complicações , Sarcoma/patologia , Nervo Isquiático/diagnóstico por imagem , Nervo Isquiático/patologia , Adulto Jovem
14.
Cardiovasc Pathol ; 45: 107183, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31865270

RESUMO

Cardiac myxoma is the most frequently encountered primary neoplasm of the heart; however, other tumefactive lesions can share similar radiologic features. We present briefly the case of a 69-year-old man incidentally found to have a mobile right atrial mass that based on initial radiologic findings was considered to represent a myxoma. After pathologic examination, the lesion was determined instead to be a cardiac varix: an endocardial, blood filled cystic space lined by endothelium and considered to represent a dilated vein.


Assuntos
Vasos Coronários/patologia , Cardiopatias/patologia , Neoplasias Cardíacas/patologia , Mixoma/patologia , Varizes/patologia , Idoso , Biópsia , Vasos Coronários/diagnóstico por imagem , Vasos Coronários/cirurgia , Erros de Diagnóstico , Dilatação Patológica , Ecocardiografia Transesofagiana , Cardiopatias/diagnóstico por imagem , Cardiopatias/cirurgia , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Masculino , Mixoma/diagnóstico por imagem , Valor Preditivo dos Testes , Tomografia Computadorizada por Raios X , Varizes/diagnóstico por imagem , Varizes/cirurgia
15.
J Card Surg ; 35(2): 511-513, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31856315

RESUMO

Myxomas are the most common cardiac tumors, benign, and usually located in the left atrium. Typically echocardiography reveals a solid tumor, whereas cystic myxomas are rare with only a few cases documented in the literature. We describe the case of a 63-year-old, female patient with an unusual presentation of a left atrial myxoma as a cystic tumor.


Assuntos
Cistos/etiologia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/patologia , Mixoma/complicações , Mixoma/patologia , Cistos/diagnóstico por imagem , Cistos/patologia , Ecocardiografia Transesofagiana , Feminino , Átrios do Coração , Neoplasias Cardíacas/diagnóstico por imagem , Humanos , Pessoa de Meia-Idade , Mixoma/diagnóstico por imagem , Tomografia Computadorizada por Raios X
17.
Ann Diagn Pathol ; 44: 151453, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31864161

RESUMO

Plexiform angiomyxoma (PF) is a rare benign mesenchymal neoplasm that arises in the antrum and pyloric region of the stomach. To the best of our knowledge, there are only two prior endoscopic ultrasound guided fine needle aspiration cytology examples have been reported. We report a case of PF which was diagnosed via EUS FNA and later confirmed on resection specimen. Differential diagnoses of this tumor are discussed. Although diagnosis of plexiform fibromyxoma on FNA specimen is difficult, a good FNA specimen with subsequent careful morphological evaluation and immunohistochemical staining work-up makes this task possible.


Assuntos
Diagnóstico Diferencial , Aspiração por Agulha Fina Guiada por Ultrassom Endoscópico/métodos , Fibroma/diagnóstico , Fibroma/patologia , Neoplasias Gástricas/diagnóstico , Neoplasias Gástricas/patologia , Adulto , Feminino , Humanos , Mixoma/diagnóstico , Mixoma/patologia
18.
Medicine (Baltimore) ; 98(51): e18386, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31861001

RESUMO

RATIONALE: Pulmonary embolisms (PEs) are caused by emboli, which mostly originate from deep venous thrombi that travel to and suddenly block the pulmonary arteries. The emboli are usually thrombi, and right atrial myxoma emboli are rare. PATIENT CONCERNS: A 55-year-old man presented with shortness of breath and syncope. We proceeded with computed tomography pulmonary angiography (CTPA) and transthoracic echocardiogram (TTE), the results of which suggested that the diagnosis was a right atrial mass. DIAGNOSIS: A definitive diagnosis compatible with a right atrial myxoma (RAM) with tumoral pulmonary emboli after surgical excision was made. INTERVENTION: Right atrial and pulmonary artery embolectomy. OUTCOMES: The patient followed an uneventful course during the 6 years of follow-up after surgery. According to a review of the literature, RAMs are often not diagnosed in a timely manner or even go completely undiagnosed. TTE, transesophageal echocardiography (TEE), CT, magnetic resonance imaging (MRI), and positron emission tomography/computed tomography may be helpful in the preoperative diagnosis. Surgical removal of the masses from the atrium and pulmonary arteries was relatively uneventful. LESSONS: RAMs should be considered unlikely reasons for fatal pulmonary embolisms.


Assuntos
Átrios do Coração/diagnóstico por imagem , Neoplasias Cardíacas/diagnóstico por imagem , Mixoma/diagnóstico por imagem , Embolia Pulmonar/etiologia , Angiografia por Tomografia Computadorizada , Ecocardiografia , Átrios do Coração/cirurgia , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade , Mixoma/patologia , Mixoma/cirurgia , Embolia Pulmonar/cirurgia
19.
Ann Diagn Pathol ; 43: 151409, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31726379

RESUMO

BACKGROUND: Intramuscular myxoma is a soft tissue myxoid tumor with a broad morphological differential diagnosis and recent developments have led to the identification of markers that can exclude some, but not all, differential diagnostic entities. However, a sensitive confirmatory marker for intramuscular myxoma has not been clearly identified. Since there is some evidence that mutations in the GNAS gene could be such a marker, we evaluated our results of next-generation sequencing testing for GNAS mutations performed in recent years on our series of intramuscular myxoma. MATERIALS AND METHODS: Next-generation sequencing was performed on 10 cases of intramuscular myxoma diagnosed between 2015 and 2019, using either the TruSight Tumor 26 panel or an in-house developed 97 cancer gene panel. Additionally, immunohistochemistry for CD34 was performed on all cases. RESULTS: All intramuscular myxomas showed a diffuse and strong expression of CD34 and a GNAS mutation was found in 88% of cases, making this a very sensitive positive test for the diagnosis of intramuscular myxoma. CONCLUSIONS: Under the condition that contemporary next-generation sequencing is applied as testing method, searching for GNAS mutations is a very sensitive confirmatory test for the diagnosis of intramuscular myxoma, obviating the necessity to perform tests that exclude other entities by the virtue of their negative result. The molecular tests results also identified strong and diffuse CD34 expression as a sensitive, albeit non-specific, marker for intramuscular myxoma.


Assuntos
Antígenos CD34/metabolismo , Cromograninas/genética , Subunidades alfa Gs de Proteínas de Ligação ao GTP/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mixoma/metabolismo , Neoplasias de Tecido Conjuntivo e de Tecidos Moles/patologia , Biomarcadores/metabolismo , Diagnóstico Diferencial , Feminino , Humanos , Imuno-Histoquímica/métodos , Masculino , Pessoa de Meia-Idade , Mutação , Mixoma/patologia , Estudos Retrospectivos , Sensibilidade e Especificidade
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