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BACKGROUND: Osteosarcoma is a malignant tumor of the bone. The giant cell-rich osteosarcoma (GCRO) is a rare histological variant of the conventional osteosarcoma, accounting for 3% of all osteosarcomas. It has a variable clinical presentation, ranging from asymptomatic to multiple pathological fractures, mainly involving long bones, and less frequently the axial skeleton and soft tissues. CASE PRESENTATION: We present the case of a 25-year-old Hispanic woman, previously healthy, with a 1-month history of dyspnea on exertion, intermittent dry cough, hyporexia, and intermittent unquantified fever. She presented to the emergency department with a sudden increase in dyspnea during which she quickly entered ventilatory failure and cardiorespiratory arrest with pulseless electrical activity. Resuscitation maneuvers and orotracheal intubation were initiated, but effective ventilation was not achieved despite intubation and she was transferred to the intensive care unit of our institution. The chest radiograph showed a mediastinal mass that occluded and displaced the airway. The chest tomography showed a large mediastinal mass that involved the pleura and vertebral bodies. A thoracoscopic biopsy was performed that documented a conventional giant cell-rich osteosarcoma. The patient was considered to be inoperable due to the size and extent of the tumor and subsequently died. CONCLUSIONS: The giant cell-rich osteosarcoma is a very rare histological variant of conventional osteosarcoma. Few cases of this type of osteosarcoma originating from the spine have been reported in the literature, and to our knowledge none of the reported cases included invasion to the chest cavity with airway compression and fatal acute respiratory failure that was present our case. Radiological and histological features of the GCRO must be taken into account to make a prompt diagnosis.
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Neoplasias Ósseas , Tumor de Células Gigantes do Osso , Osteossarcoma , Insuficiência Respiratória , Adulto , Neoplasias Ósseas/complicações , Neoplasias Ósseas/diagnóstico por imagem , Feminino , Células Gigantes , Humanos , Osteossarcoma/complicações , Osteossarcoma/diagnóstico , Osteossarcoma/terapia , Insuficiência Respiratória/etiologiaRESUMO
Solitary fibrous tumors of the pleura (SFTP) are rare mesenchymal neoplasms that originate from mesenchymal growth in the pleura, tend to be single tumors, usually have an indolent course and show nonspecific symptoms. SFTP can be often diagnosed from an incidental finding of a single mass in the thorax and should be confirmed by biopsy and immunohistochemistry. A minority of cases may present Doege-Potter syndrome (DPS, episodes of refractory hypoglycemia) associated with production of insulin-like growth factor 2 (IGF-2). Both SFTP and DPS are rare occurrences with less than 2000 cases reported worldwide. The curative treatment is tumor resection. Two cases of patients with DPS caused by SFTP are presented below.
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RATIONALE: Polydimethylsiloxane, commonly referred as silicone, is an inert liquid compound used in esthetic procedures due to its durability and thermal stability, yet the application of non-pure silicone generates risks. One of the complications is systemic embolism syndrome which is presents with fever, hypoxemia, and progression to respiratory failure, diffuse alveolar damage and alveolar hemorrhage, as well as neurological alterations in one-third of the cases. Management is strictly supportive. We present the case of acute pneumonitis with alveolar hemorrhage after silicone injection. PATIENT CONCERNS: 25-year-old transsexual man, who consulted 48âhours after liquid silicone injection in the buttocks and trochanteric area, with progressive dyspnea and chest tightness, with rapid progression to respiratory failure. DIAGNOSIS: Clinical diagnosis of silicone embolism was made. Chest x-ray and CT angiography showed diffuse alveolar infiltrates and pleural effusion without evidence of acute venous thromboembolism. Bronchoscopy plus bronchoalveolar lavage showed hemorrhagic fluid, 60% macrophages with hemosiderin in cytology and negative cultures. INTERVENTION: Sedation, relaxation, pronation, and protective ventilation were implemented until hemodynamic stabilization; as well as IV steroids and antibiotics. OUTCOMES: Clinical progress was slow towards improvement with resolution of radiological or physical abnormalities. Despite severity, the patient improved satisfactorily without late sequelae. LESSONS: Silicone injection can trigger phenomena similar to that seen in fat embolism causing inflammation and immune response activation that lead to alveolar hemorrhage, diffuse alveolar damage, and acute respiratory distress syndrome. We reported pulmonary complications related to the illegal use of injected silicone for esthetic procedures.
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Embolia/induzido quimicamente , Pneumonia/induzido quimicamente , Síndrome do Desconforto Respiratório/etiologia , Procedimentos de Readequação Sexual/efeitos adversos , Silicones/efeitos adversos , Adulto , Feminino , Hemorragia/induzido quimicamente , Humanos , Masculino , Pneumonia/diagnóstico por imagem , Síndrome do Desconforto Respiratório/diagnóstico por imagem , Pessoas TransgêneroRESUMO
INTRODUCTION: Paragangliomas (PGGL) are rare neuroendocrine tumors arising from non-epithelial extra-adrenal chromaffin cells. They have been described in different sites: abdomen, pelvis, head, neck and thorax. Incidence is very low, occurring in less than 2-8/million per year. PGGL's of the lung are extremely rare, they have a slow growth and present as painless lesions. Biopsy is the method of choice for diagnosis and prognosis. PRESENTATION OF CASE: This is a 70-year-old woman with chronic cough, with a CT-scan showing a 3.3-cm mass in the left lower lobe. After video-assisted thoracic surgery, histologic findings confirmed a non-functioning pulmonary paraganglioma. We present the clinical, radiological, pathological findings and clinical course. DISCUSSION: Primary pulmonary PGGL's are extremely rare neuroendocrine tumors with low-grade malignancy, difficult to distinguish from other pulmonary tumors relying only on imaging techniques. In this case, PGGL presented as an incidentaloma during the evaluation of chronic cough. After histological diagnosis, genetic testing are ideally performed to identify somatic or germline mutations that may condition a higher risk of malignancy and metastasis. CONCLUSION: PGGL's must be considered when other diagnoses are unlikely due to immunohistochemistry findings. Larger studies in this field are needed to determine the risk factors for its development and to determine which populations have the greatest potential for malignant transformation.
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BACKGROUND: Multiple primary malignant neoplasms are not frequent but are increasing in incidence. Some of them are associated with genetic syndromes such as von Hippel-Lindau syndrome and Li-Fraumeni syndrome. Dedifferentiated liposarcoma is one of the rarest soft tissue tumors, and clear cell renal carcinoma is the most frequent kidney cancer. The concomitant presence of these tumors is extremely rare; however, some cases have been reported, none of them presenting with liposarcoma of the limbs. We report an interesting case of a patient with synchronous multiple primary tumors presenting with a very rare liposarcoma associated with renal cell carcinoma (a very rare association). A review of the literature and a collection of similar cases published previously are also provided. CASE PRESENTATION: We report a case of a 62-year-old Hispanic man who presented to our institution with a left thigh mass compatible with dedifferentiated liposarcoma synchronous with metastatic clear cell renal carcinoma. Multiple treatment lines were provided with no response, with a further metastatic transformation. Genetic analysis by liquid biopsy showed some mutations that were not susceptible to targeted therapy. At the time of this report, the patient is undergoing palliative care because his nonresponsive metastatic disease persists. CONCLUSIONS: We present the first reported case of clear cell renal carcinoma synchronous with dedifferentiated liposarcoma of a limb. The association between renal cell carcinoma and dedifferentiated liposarcoma is unusual, and there are few reports of this presentation in the literature. More research about these tumors along with genetic tests needs to be performed to seek a better understanding of the fundamental basis of this rare association.
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Carcinoma de Células Renais/complicações , Neoplasias Renais/complicações , Lipossarcoma/complicações , Neoplasias Primárias Múltiplas , Neoplasias de Tecidos Moles/complicações , Carcinoma de Células Renais/genética , Humanos , Neoplasias Renais/genética , Masculino , Pessoa de Meia-Idade , Metástase Neoplásica/terapia , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada , Coxa da Perna/diagnóstico por imagem , Coxa da Perna/patologiaRESUMO
INTRODUCTION: Diffuse large B-cell lymphoma (DLBCL) accounts for 35% of non-Hodgkin lymphoma and its incidence increases with age. Epstein Barr virus (EBV) is widely spread worldwide. There is a 10% association between EBV and DLBCL in immunocompetent patients; this type of malignancy has a high prevalence in Latin American countries. OBJECTIVE: Estimate the percentage of association between DLBCL and EBV patients, describing demographics, clinical and immunological features, as well as phenotype and clinical outcome in a high complexity healthcare institution in Colombia. MATERIALS AND METHODS: This is an analytic observational study from an historical cohort. Clinical and pathological records were revised among DLBCL patients and subsequent in-situ hybridization was performed for EBV detection. A descriptive analysis of the data was carried out. RESULTS: From 2011 to 2017, 55 DLBCL patients were identified. 16% were positive on ISH for EBV, most of which belonged to the non-germinal center B-cell immunophenotype (89%), with a nodal presentation (56%). DLBCL EBV positive was more prevalent among males (67%) and in younger patients (median of 48 years) where the mortality rate was 56%. CONCLUSIONS: DLBCL patients positive for EBV are more prone to belong to the non-germinal center B-cell immunophenotype which, according to our findings, is associated with a younger age and worse prognosis. Presently, EBER in-situ hybridization is not a part of routine tests, but we recommend its inclusion in the pathology package for DLBCL patients, as it can influence clinical outcomes.
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Herpesvirus Humano 4/isolamento & purificação , Linfoma Difuso de Grandes Células B/epidemiologia , Linfoma Difuso de Grandes Células B/virologia , Idoso , Colômbia/epidemiologia , Infecções por Vírus Epstein-Barr/complicações , Feminino , Hospitais , Humanos , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/diagnóstico , Masculino , Pessoa de Meia-Idade , PrevalênciaRESUMO
INTRODUCTION: Immunocytochemistry is very useful in the differentiation of benign and malignant lesions, through the use of specific antibodies that differentiate the cells according to their origin. This study aims to describe the application of immunohistochemistry to the cytological study of different sample types at the Valle del Lili Foundation. MATERIALS AND METHODS: A descriptive, retrospective, observational study was carried out with cytologies registered in the database of the pathology department of the Fundación Valle del Lili, between December 2015 and October 2017. RESULTS: Fifty-four cytological samples with immunocytochemistry were included. It was possible to perform both the cell block and the liquid-based cytology button to 38.88% (n=21) of the total samples, finding from the results of both types of cytology, a Cohen's Kappa coefficient of 0.80 (95%CI: (0.4-1.0), P<.001. The most commonly used markers were: Calretinin, MOC-31, EMA, TTF1, PAX8, and Calcitonin. Out of the cytological studies positive for malignancy, a definitive diagnosis was made with a biopsy in 58.1% (n=25), with a Cohen's Kappa coefficient of 1.0 (95%CI: 1.0-1.0), P<.001. DISCUSSION: This study provided data that permits the implementation of liquid-based cytology button for immunocytochemical studies, using assessable markers with agreement with cell-block cytology. Furthermore, it provides data useful for future research in this field.
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Biomarcadores Tumorais/análise , Imuno-Histoquímica , Biópsia Líquida , Neoplasias/química , Neoplasias/patologia , Anticorpos Monoclonais/análise , Calbindina 2/análise , Colômbia , Proteínas de Ligação a DNA/análise , Hospitais Universitários , Humanos , Proteínas de Membrana/análise , Fator de Transcrição PAX8/análise , Estudos Retrospectivos , Fatores de Transcrição/análiseRESUMO
INTRODUCTION: Immunoglobulin G4 (IgG4)-related disease has been described in the last decade. It is a fibro-inflammatory condition capable of affecting almost every organ and diagnosis requires both clinical and paraclinical confirmation. We present the largest study to date in Colombia. OBJECTIVE: To describe the clinical and histopathological characteristics of patients diagnosed with IgG4-related disease at the Fundación Valle del Lili. METHODS: Observational-descriptive retrospective study. The clinical and pathological records of patients diagnosed with IgG4-related disease at the Fundación Valle del Lili were reviewed and a descriptive statistical analysis made. RESULTS: From 2013-2016, 16 patients were diagnosed. Median age was 44 years (RIC 30-58) and 10 (62.5%) were women. The most common clinical presentation was a combination of a tumefactive mass, constitutional symptoms and site-related symptoms (43.8%) (n=7). No preference for any organ was seen. Histopathology revealed all cases had dense lymphoplasmacytic infiltrate and storiform-type fibrosis; 75% also had obliterative phlebitis. In all cases≥10 cells/HPF of IgG4+ were found and 81% had a ratio of IgG4+/IgG+>50%. CONCLUSION: IgG4-related disease appears to be underdiagnosed, probably due to its broad clinical spectrum as well as a low index of awareness among clinicians. We recommend that, when dense lymphoplasmacytic infiltrates, storiform-type fibrosis or obliterative phlebitis are found, immunohistochemistry for IgG and IgG4should be requested. Positive results then must be correlated with complementary studies to confirm the disease.
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Doença Relacionada a Imunoglobulina G4/patologia , Adulto , Doenças Autoimunes/epidemiologia , Colômbia/epidemiologia , Comorbidade , Feminino , Fibrose , Humanos , Hipersensibilidade/epidemiologia , Doença Relacionada a Imunoglobulina G4/epidemiologia , Linfócitos/patologia , Masculino , Pessoa de Meia-Idade , Neoplasias/epidemiologia , Flebite/etiologia , Flebite/patologia , Plasmócitos/patologia , Estudos Retrospectivos , Avaliação de Sintomas , Centros de Atenção Terciária/estatística & dados numéricosRESUMO
Valve vegetations in nonbacterial thrombotic endocarditis consist of fibrin and platelet aggregates and can be related to circulating immune complexes, such as in the case of antiphospholipid syndrome. In patients with primary antiphospholipid syndrome, echocardiographic studies have disclosed heart valve abnormalities in about a third of patients. Unusual associations between antiphospholipid syndrome and nonbacterial thrombotic endocarditis include presentation as an intracardiac mass compatible with a myxoma on imaging studies, as well as isolated involvement of the tricuspid valve. Both of these scenarios have been previously reported in female patients. This article presents the case of a 53-year-old Hispanic male with antiphospholipid syndrome who presented to the hospital with symptoms of heart failure and persistent right calf pain. An intracardiac mass attached to the anterior leaflet of the tricuspid valve was found through transthoracic echocardiography. Further imaging studies suggested the mass to be a myxoma and the patient underwent mass excision with tricuspid valve replacement. Pathology report of the surgical specimen was consistent with a diagnosis of nonbacterial thrombotic endocarditis. This case highlights the importance of considering nonbacterial thrombotic endocarditis as a key differential diagnosis in patients with concomitant antiphospholipid syndrome and intracardiac masses, as well as challenges encountered in diagnosis and management.