RESUMO
Multiple myeloma (MM) is a rare plasma cell neoplasm characterized by monoclonal cell infiltration in the bone marrow, which can cause anemia, bone pain, and recurrent infections. Extramedullary myeloma (EM) is a rare clinical presentation with a poor prognosis. It involves the accumulation of clonal plasma cells in soft tissues with a tumor-like appearance, either presenting as a primary (initial) or secondary (relapse) malignancy. We present a case of a 65-year-old male who experienced an abrupt onset of chest pain associated with a localized sternal mass while exercising the day prior to arrival. Chest computed tomography (CT) scan with contrast revealed an expansile lytic lesion around the sternal area. Due to high suspicion for malignancy, a CT-guided core needle biopsy was done, which showed plasma cells with rare Dutcher bodies consistent with MM. Bone marrow smear showed the presence of 70% plasma cells confirming a diagnosis of MM. Early detection of this devastating disease may help improve survival. Therefore, physicians should have a high index of suspicion for MM in older patients with similar clinical presentations.
RESUMO
Hereditary retinoblastoma is attributed to germline mutation in an RB1 tumor suppressor gene followed by somatic mutation in the other allele. This report details a case of leiomyosarcoma of the bladder in a 24-year-old man with a history of retinoblastoma treated by enucleation and radiotherapy in infancy. Leiomyosarcoma is the most common secondary soft tissue malignancy in retinoblastoma survivors; however, leiomyosarcoma of the bladder in retinoblastoma survivors is very rare. Survivors of hereditary retinoblastoma should be monitored closely for secondary malignancies, and there should be an increased suspicion of malignancy. Furthermore, tumors can occur outside the field of radiation.
Assuntos
Leiomiossarcoma/genética , Segunda Neoplasia Primária/genética , Neoplasias da Retina/genética , Retinoblastoma/genética , Neoplasias da Bexiga Urinária/genética , Adulto , Sobreviventes de Câncer , Enucleação Ocular , Genes do Retinoblastoma , Mutação em Linhagem Germinativa , Humanos , Lactente , Leiomiossarcoma/diagnóstico por imagem , Leiomiossarcoma/patologia , Leiomiossarcoma/cirurgia , Masculino , Segunda Neoplasia Primária/diagnóstico por imagem , Segunda Neoplasia Primária/patologia , Segunda Neoplasia Primária/cirurgia , Neoplasias da Retina/radioterapia , Neoplasias da Retina/cirurgia , Retinoblastoma/radioterapia , Retinoblastoma/cirurgia , Tomografia Computadorizada por Raios X , Neoplasias da Bexiga Urinária/diagnóstico por imagem , Neoplasias da Bexiga Urinária/patologia , Neoplasias da Bexiga Urinária/cirurgiaRESUMO
Primary aortic sarcoma is a rare and aggressive malignancy with only approximately 190 cases reported in the literature. While angiosarcoma and intimal sarcomas represent an estimated 67.7% of malignant aortic tumours, spindle cell sarcomas are even more exclusive, consisting of only 0.9% of malignant aortic tumours. Differentiated from other malignant aortic tumours, spindle cell sarcomas are of mesenchymal origin and usually express vimentin and osteopontin. Clinical presentations are variable and nonspecific, ranging from back pain, abdominal pain or elevated blood pressure, misleading to differentials like pulmonary emboli or aortic aneurysms such as in our case here. In this article, we discuss the finding of an extremely rare aortic sarcoma masquerading as a pulmonary embolism. The patient underwent surgical resection; however, the course was complicated by the development of brain metastases and intracranial haemorrhage. The literature is expanding regarding the evolution of adjuvant chemotherapy and radiation therapy in the treatment of these patients. The exact pathogenesis of spindle cell sarcomas is unknown but thought to be related to the MDM2-p53 pathway. The development of spindle cell sarcomas may be related to Li-Fraumeni syndrome, which should be on the differential for these patients. This case highlights the importance of identifying aortic sarcomas in patients who present with signs and symptoms of peripheral embolization as the diagnosis can be easily misconstrued for thrombus or aortic aneurysm, leading to a delay in proper and timely management. We herein emphasize that aortic sarcomas should be included in the clinician's working differential due to the poor prognosis and outcomes that these aggressive tumours carry. LEARNING POINTS: Malignant aortic tumours are rare and can present with a multitude of symptoms ranging from constitutional symptoms to abdominal discomfort to unexplained hypertension. Spindle cell sarcomas represent 1 of the least common malignant aortic tumours reported in the literature.Malignant aortic tumours have a poor prognosis, and of the various types of malignant aortic tumours, aortic sarcomas have a particularly poor prognosis with a 5-year survival rate of 8%.The exact pathophysiology of these malignancies is unknown but is thought to be related to the MDM2-p53 pathway and may be related to Li-Fraumeni syndrome.
RESUMO
Gray zone lymphoma, also known as B-cell lymphoma, unclassifiable, with features intermediate between diffuse large B-cell lymphoma and classical Hodgkin lymphoma, is a rare malignancy with overlapping features of both diffuse large B-cell lymphoma and classical Hodgkin lymphoma. Most commonly mediastinal involvement is seen. Extranodal involvement is rare. In this case report, we present the case of a 59-year-old male who presented with stress-related left shoulder pain, ultimately diagnosed with gray zone lymphoma. The patient was treated with etoposide, prednisone, vincristine, cyclophosphamide, and doxorubicin-rituximab (EPOCH-R) regimen followed by consolidation radiotherapy resulting in complete response. We are highlighting this case as rare and atypical presentation of a rare disease.
Assuntos
Doença de Hodgkin/terapia , Linfoma Difuso de Grandes Células B/terapia , Dor de Ombro/etiologia , Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Etoposídeo/administração & dosagem , Doença de Hodgkin/diagnóstico , Doença de Hodgkin/patologia , Humanos , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/patologia , Masculino , Pessoa de Meia-Idade , Prednisona/administração & dosagem , Radioterapia , Doenças Raras , Indução de Remissão , Rituximab/administração & dosagem , Vincristina/administração & dosagemRESUMO
Gastrointestinal (GI) tuberculosis (TB) is rare and can occur in the context of active pulmonary disease or as a primary infection with no pulmonary symptoms. It typically presents with vague abdominal symptoms, making it difficult to discern from alternative disease processes. Although the ileocecal region is the most commonly affected site, tuberculous enteritis can involve any aspect of the GI tract. To demonstrate the importance of maintaining a high clinical suspicion for the disease, we present a case of GI TB presenting as severe malnutrition and segmental colitis of the left colon.
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We present a case of colonic mucosa-associated lymphoid tissue (MALT) lymphoma in a 62-year-old woman diagnosed after a positive test for fecal occult blood.
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BACKGROUND: Extramedullary hematopoeisis (EMH) can occur in various physiological and pathologic states. The spleen is the most common site of EMH. CASE PRESENTATION: We report a case with hereditary persistence of fetal hemoglobin with extramedullary hematopoiesis presented as cord compression and cytopenia secondary to multi-paraspinal masses. CONCLUSION: Treatment can be a challenge. Relapse is a possibility.
RESUMO
Complete genome sequences of nine enterovirus D68 (EV-D68) strains from patients in New York were obtained in 2016 by metagenomic next-generation sequencing. Comparative genomic analysis suggests that a new subclade B3, with ~4.5% nucleotide divergence from subclade B1 strains causing the 2014 outbreak, is circulating in the United States in 2016.