RESUMO
Tumour lysis syndrome (TLS) is a constellation of metabolic derangements caused by lysis of tumour cells. It is an oncological emergency that is considered a rare occurrence in multiple myeloma (MM) and usually occurs after patients have been treated with chemotherapy. We describe a very rare case of TLS occurring before the official diagnosis or treatment of MM. We report infrequent karyotype abnormalities, including loss of 17p13.1 (TP53 mutation), t(4;14) (FGFR3/IGH fusion) and monosomy 13, that have not been explicitly described in association with spontaneous tumour lysis syndrome (STLS) in MM. This case adds to the sparse literature available on STLS in MM, which is a life-threatening situation requiring urgent medical intervention.
Assuntos
Mieloma Múltiplo/complicações , Síndrome de Lise Tumoral/genética , Diagnóstico Diferencial , Quimioterapia Combinada , Evolução Fatal , Humanos , Masculino , Pessoa de Meia-Idade , Monossomia , Mieloma Múltiplo/diagnóstico , Mieloma Múltiplo/terapia , Diálise Renal , Síndrome de Lise Tumoral/diagnóstico , Síndrome de Lise Tumoral/terapiaRESUMO
Mantle cell lymphoma accounts for 5-7% of all non-Hodgkin's lymphomas. Under the current WHO classification, it is categorized as an indolent B cell lymphoma, but has an aggressive clinical course. New insights into leukemogenic molecular pathways of mantle cell lymphoma have uncovered unique therapeutic targets. Ibrutinib, a Bruton's tyrosine kinase inhibitor, is the newest drug in the arsenal that has shown promising efficacy in relapsed mantle cell lymphoma. Long-term studies have shown that grade 3 or 4 adverse events are infrequent. Asymptomatic lymphocytosis is frequently seen with ibrutinib use in mantle cell lymphoma; however, tumor lysis syndrome is an extremely rare complication. To date, only two patients with ibrutinib-associated tumor lysis syndrome in mantle cell lymphoma have been described in a long-term follow-up study. Both patients met laboratory criteria for tumor lysis syndrome, however, but did not develop clinical tumor lysis syndrome. We, here describe a patient with relapsed mantle cell lymphoma who developed clinical tumor lysis syndrome with ibrutinib monotherapy.
Assuntos
Linfoma de Célula do Manto/tratamento farmacológico , Inibidores de Proteínas Quinases/administração & dosagem , Inibidores de Proteínas Quinases/uso terapêutico , Pirazóis/efeitos adversos , Pirazóis/uso terapêutico , Pirimidinas/efeitos adversos , Pirimidinas/uso terapêutico , Síndrome de Lise Tumoral/genética , Adenina/análogos & derivados , Idoso , Antineoplásicos/efeitos adversos , Antineoplásicos/uso terapêutico , Humanos , Masculino , PiperidinasRESUMO
Anaplastic lymphoma kinase (ALK)-positive diffuse large B-cell lymphoma (DLBCL) is a recently described, uncommon form of DLBCL, which has been seen primarily in young men and which presents with advanced disease. The fact that ALK-positive DLBCL is an uncommon diagnosis is likely due to the combined effects of this being an uncommon disease coupled with the challenges in the pathologic identification of this neoplasm. Prompt and accurate identification of this tumor is becoming increasingly important, however, as we enter the era of therapeutic ALK inhibitors, which are currently undergoing study in several clinical trials. Here, we report a case of ALK-positive DLBCL in a 39-year-old male patient who presented with spontaneous tumor lysis syndrome. We review the clinical, morphologic, immunohistochemical, and molecular aspects of this case and of ALK-positive DLBCL in general, with the purpose of bringing to light the existence of this disease and its potential future therapy.
Assuntos
Biomarcadores Tumorais/genética , Linfoma Difuso de Grandes Células B/patologia , Obesidade/patologia , Receptores Proteína Tirosina Quinases/genética , Síndrome de Lise Tumoral/patologia , Adulto , Quinase do Linfoma Anaplásico , Antineoplásicos/uso terapêutico , Evolução Fatal , Humanos , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/genética , Masculino , Obesidade/complicações , Obesidade/tratamento farmacológico , Obesidade/genética , Síndrome de Lise Tumoral/complicações , Síndrome de Lise Tumoral/tratamento farmacológico , Síndrome de Lise Tumoral/genéticaAssuntos
Janus Quinase 2/genética , Policitemia Vera/patologia , Mielofibrose Primária/radioterapia , Lesões por Radiação/etiologia , Síndrome de Lise Tumoral/etiologia , Idoso , Humanos , Masculino , Mutação , Policitemia Vera/enzimologia , Policitemia Vera/genética , Mielofibrose Primária/enzimologia , Mielofibrose Primária/genética , Esplenomegalia/radioterapia , Síndrome de Lise Tumoral/enzimologia , Síndrome de Lise Tumoral/genéticaRESUMO
Acute tumor lysis syndrome (ATLS) is characterized by severe metabolic abnormalities and organ dysfunction resulting from rapid destruction of neoplastic cells. Metabolic disturbances are thought to be the primary cause of clinical ATLS symptoms, which include renal dysfunction, seizures, and cardiac arrhythmias. The histopathologic lesions associated with organ dysfunction are largely unknown because of the low rate of mortality of ATLS in humans and the few cases of ATLS identified in laboratory animals. Here, we describe histologic, immunohistochemical, and electron microscopic analyses of thirty-one ATLS cases from a cohort of 499 mice that are prone to spontaneous lymphoblastic lymphoma owing to genetic defects in DNA replication fidelity. Seventy-three percent of our cohort died with lymphoblastic lymphoma, and 8% of affected mice died with diffuse microthromboemboli consistent with ATLS. Mice with ATLS had a high spontaneous mortality rate (>50%), a large tumor burden with disseminated disease, and evidence of leukemia. Blood vessels in the lung, kidney, and other organs were occluded by microthromboemboli composed of chromatin, cellular debris, fibrin, platelets, and entrapped erythrocytes and malignant cells. This case series suggests that ATLS can occur at high frequency in mice with disseminated lymphoblastic lymphoma and leads to a high rate of spontaneous death from microthromboemboli.