RESUMO
We herein describe the case of a 25-year-old woman who suffered from atypical familial Mediterranean fever for more than a decade. She presented with a periodic fever, abdominal pain and persistent ulcers in the terminal ileum. Colchicine was effective, and familial Mediterranean fever was diagnosed. A genetic study showed a heterozygous E148Q mutation in the MEFV gene. Multiple, recurrent, abscess-like lesions developed asynchronously in the spleen, liver, and a lung. Infliximab was administered when colchicine treatment became ineffective. However, infliximab treatment soon became ineffective, probably because antibodies were generated against it. Therefore, etanercept treatment was started, and the patient showed an immediate response.
Assuntos
Abscesso/etiologia , Febre Familiar do Mediterrâneo/complicações , Dor Abdominal/complicações , Adulto , Anticorpos Monoclonais/uso terapêutico , Colchicina/administração & dosagem , Etanercepte , Febre Familiar do Mediterrâneo/tratamento farmacológico , Febre Familiar do Mediterrâneo/genética , Feminino , Fármacos Gastrointestinais/uso terapêutico , Humanos , Doenças do Íleo/etiologia , Imunoglobulina G/uso terapêutico , Infliximab , Receptores do Fator de Necrose Tumoral/uso terapêutico , Recidiva , Úlcera/etiologiaRESUMO
The distribution of adult T-cell leukemia/lymphoma (ATLL) is typically systemic. In addition to peripheral blood (PB) and lymph nodes, extranodal sites such as the skin, lung, liver, gastrointestinal tract, and central nervous system are frequently involved. We report a unique case of ATLL in which the patient presented with prolonged fever. A 65-year-old man had high-grade fever lasting for 2 weeks. He showed no lymphadenopathy, hepatosplenomegaly, skin lesions, or PB involvement. Bone marrow examination showed widespread infiltration of ATLL cells. (18)F-fluorodeoxy glucose positron emission tomography (FDG-PET) revealed that the disease was confined to the bone marrow.
Assuntos
Neoplasias da Medula Óssea/patologia , Leucemia-Linfoma de Células T do Adulto/patologia , Idoso , Humanos , MasculinoRESUMO
This report describes a patient with extramedullary relapse of acute myeloid leukemia (AML) without involving bone marrow. A 57-year-old man was diagnosed as having acute monoblastic leukemia with t(9;11)(p22;q23) and trisomy 8. Ten months after achieving complete response (CR) with chemotherapy, masses developed in his left forearm and in the back of his thigh, preceded by enigmatic peripheral neurological symptoms. Aspiration from the forearm showed leukemic relapse, and fluorescence in situ hybridization (FISH) revealed that the majority of the cells had 11q23 anomaly and tetrasomy 8. Bone marrow or meningeal relapse was not observed. To our knowledge, this is the first case report of clonal evolution associated with the development of myeloid sarcoma as a relapse in AML.
Assuntos
Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 8/genética , Cromossomos Humanos Par 9/genética , Leucemia Mieloide Aguda/genética , Sarcoma Mieloide/diagnóstico , Sarcoma Mieloide/genética , Trissomia/genética , Aberrações Cromossômicas , Tratamento Farmacológico , Antebraço , Humanos , Leucemia Mieloide Aguda/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Recidiva , Coxa da PernaRESUMO
Early diagnosis of intravascular large B-cell lymphoma (IVLBCL) is difficult, but is critical for longer survival for the patients. We report a case of IVLBCL that was diagnosed with the help of FDG-PET. A 76-year-old woman was referred to us for the evaluation of her elevated serum LDH. She presented with general malaise and high fever. There were no skin lesions or neurological involvement. FDG-PET imaging showed increased uptake of FDG in the vertebra, bilateral femurs, sternum, and iliac bones. A diagnosis of IVLBCL was made by bone marrow biopsy. She was successfully treated with rituximab and modified CHOP therapy.
Assuntos
Exame de Medula Óssea , Fluordesoxiglucose F18 , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Tomografia por Emissão de Pósitrons , Idoso , Anticorpos Monoclonais/uso terapêutico , Anticorpos Monoclonais Murinos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biópsia , Medula Óssea/patologia , Células da Medula Óssea/patologia , Ciclofosfamida/uso terapêutico , Doxorrubicina/análogos & derivados , Doxorrubicina/uso terapêutico , Feminino , Febre de Causa Desconhecida/etiologia , Humanos , Hibridização in Situ Fluorescente , Linfoma Difuso de Grandes Células B/genética , Prednisona/uso terapêutico , Rituximab , Translocação Genética , Vincristina/uso terapêuticoRESUMO
A 65-year-old female began experiencing arthralgia, morning stiffness and psychroesthesia in April 2000. She visited a rheumatologist and was suspected of having early-stage rheumatoid arthritis. She was referred to our hospital, and was admitted in December 2000. At that time, sclerosis of the skin was advanced, and Raynaud's phenomenon was confirmed. The patient also exhibited nailfold bleeding, and was diagnosed as having systemic scleroderma. She visited a gynecologist for screening and cervical uteri carcinoma was confirmed. She underwent surgery in March 2001, and subsequently, sclerosis in her skin was almost stopped. We believe that these clinical symptoms were related to paraneoplastic syndrome. We therefore immunochemically investigated the pathogenesis of paraneoplastic syndrome and found that connective tissue growth factor (CTGF) might be involved and transforming growth factor-beta (TGF-beta) might not be involved in this case.
