RESUMO
Despite the relevance of the c-kit/stem cell factor (SCF) signaling pathway in mast cell (MC) diseases, the exact frequency of KIT mutations in different compartments of bone marrow (BM) hematopoietic cells of individuals with systemic mastocytosis (SM), and its different diagnostic categories, remains unknown. In this study, we prospectively analyzed the presence of KIT mutations in fluorescence-activated cell-sorting (FACS)- purified populations of BM MCs (n = 113) and other BM cell compartments (n = 67) from adults with SM. Our results show the presence of D816V KIT mutation in virtually all adults (93%) with indolent and aggressive forms of SM, except well-differentiated SM (29%), while other KIT mutations were rarely (< 3%) detected. In around one-third of patients with mutated MCs, the KIT mutation was also detected in CD34+ hematopoietic cells and eosinophils, and, to a lesser extent, in monocytic, neutrophil-lineage BM precursor cells and lymphocytes. Most patient with poor-prognosis SM (81%) carried the KIT mutation in 2 or more BM myeloid cell populations, while this was detected in a smaller proportion (27%) of indolent cases. These results would support the notion that KIT mutation is a hallmark of adult SM where it targets a pluripotent hematopoietic stem cell, and may contribute to explaining previously observed discrepancies in the literature.
Assuntos
Células da Medula Óssea/metabolismo , Células-Tronco Hematopoéticas/metabolismo , Mastócitos/metabolismo , Mutação , Proteínas Proto-Oncogênicas c-kit/genética , Adolescente , Adulto , Idoso , Linhagem da Célula , Criança , Feminino , Humanos , Masculino , Mastocitose/genética , Mastocitose/metabolismo , Pessoa de Meia-Idade , Estudos Prospectivos , EspanhaRESUMO
Gefitinib (Iressa) is a new antineoplastic agent that acts by selectively inhibiting epidermal growth factor receptor tyrosine kinase (EGFR-TK). It has shown activity against several solid tumors. Because of their action mechanism, gefitinib and other tyrosine kinase inhibitors have been associated with multiple cutaneous effects, most of which are mild and well tolerated. We present a case of perforating dermatosis after treatment with gefitinib.
Assuntos
Antineoplásicos/efeitos adversos , Carcinoma de Células Escamosas/tratamento farmacológico , Quimioterapia Adjuvante/efeitos adversos , Toxidermias/etiologia , Neoplasias Pulmonares/tratamento farmacológico , Inibidores de Proteínas Quinases/efeitos adversos , Quinazolinas/efeitos adversos , Úlcera Cutânea/induzido quimicamente , Antineoplásicos/uso terapêutico , Carcinoma de Células Escamosas/complicações , Carcinoma de Células Escamosas/enzimologia , Carcinoma de Células Escamosas/cirurgia , Terapia Combinada , Toxidermias/patologia , Receptores ErbB/antagonistas & inibidores , Gefitinibe , Humanos , Neoplasias Pulmonares/complicações , Neoplasias Pulmonares/enzimologia , Neoplasias Pulmonares/cirurgia , Masculino , Pessoa de Meia-Idade , Proteínas de Neoplasias/antagonistas & inibidores , Pneumonectomia , Inibidores de Proteínas Quinases/uso terapêutico , Quinazolinas/uso terapêutico , Úlcera Cutânea/patologiaRESUMO
El gefitinib (Iressa®) es un nuevo agente antineoplásico que actúa inhibiendo selectivamente la tirosina cinasa del factor de crecimiento epidérmico (EGFR-TK). Ha demostrado actividad frente a varios tumores sólidos. Por su mecanismo de acción, el gefitinib y otros inhibidores de tirosina cinasa se han asociado a múltiples efectos cutáneos dermatológicos, la mayoría de ellos leves y bien tolerados. Se presenta un caso de dermatosis perforante tras tratamiento con gefitinib
Gefitinib (Iressa®) is a new antineoplastic agent that acts by selectively inhibiting epidermal growth factor receptor tyrosine kinase (EGFR-TK). It has shown activity against several solid tumors. Because of their action mechanism, gefitinib and other tyrosine kinase inhibitors have been associated with multiple cutaneous effects, most of which are mild and well tolerated. We present a case of perforating dermatosis after treatment with gefitinib
Assuntos
Masculino , Adulto , Humanos , Dermatoses Faciais/diagnóstico , Dermatoses Faciais/terapia , Antineoplásicos/efeitos adversos , Toxidermias/diagnóstico , Toxidermias/etiologia , Receptores ErbB/uso terapêutico , Hiperceratose Epidermolítica/complicações , Hiperceratose Epidermolítica/diagnóstico , Erupções Acneiformes/complicações , Erupções Acneiformes/diagnóstico , Dermatoses Faciais/patologia , Hiperceratose Epidermolítica/patologia , Acantose Nigricans/complicações , Erupções Acneiformes/patologia , Erupções Acneiformes/fisiopatologia , Erupções Acneiformes/terapiaRESUMO
We present a case of tuberculosis verrucosa cutis from Mycobacterium Boris in a male patient who also presented with contralateral tuberculous arthritis. The tuberculosis most likely spread through the blood in our patient.
Assuntos
Tuberculose Cutânea/complicações , Tuberculose Osteoarticular/complicações , Adulto , Humanos , MasculinoRESUMO
Presentamos un caso de tuberculosis verrucosa cutis por Mycobacterium bovis en un paciente que, además, presentaba una artritis tuberculosa contralateral. La extensión por vía hemática es la forma más probable de diseminación en nuestro paciente
We present a case of tuberculosis verrucosa cutis from Mycobacterium Boris in a male patient who also presented with contralateral tuberculous arthritis. The tuberculosis most likely spread through the blood in our patient