RESUMEN
Eosinophils in peripheral blood account for 0.3-5% of leukocytes, which is equivalent to 0.05-0.5 × 109/L. A count above 0.5 × 109/L is considered to indicate eosinophilia, while a count equal to or above 1.5 × 109/L is defined as hypereosinophilia. In bone marrow aspirate, eosinophilia is considered when eosinophils make up more than 6% of the total nuclear cells. In daily clinical practice, the most common causes of reactive eosinophilia are non-hematologic, whether they are non-neoplastic (allergic diseases, drugs, infections, or immunological diseases) or neoplastic (solid tumors). Eosinophilia that is associated with a hematological malignancy may be reactive or secondary to the production of eosinophilopoietic cytokines, and this is mainly seen in lymphoid neoplasms (Hodgkin lymphoma, mature T-cell neoplasms, lymphocytic variant of hypereosinophilic syndrome, and B-acute lymphoblastic leukemia/lymphoma). Eosinophilia that is associated with a hematological malignancy may also be neoplastic or primary, derived from the malignant clone, usually in myeloid neoplasms or with its origin in stem cells (myeloid/lymphoid neoplasms with eosinophilia and tyrosine kinase gene fusions, acute myeloid leukemia with core binding factor translocations, mastocytosis, myeloproliferative neoplasms, myelodysplastic/myeloproliferative neoplasms, and myelodysplastic neoplasms). There are no concrete data in standardized cytological and cytometric procedures that could predict whether eosinophilia is reactive or clonal. The verification is usually indirect, based on the categorization of the accompanying hematologic malignancy. This review focuses on the broad differential diagnosis of hematological malignancies with eosinophilia.
Asunto(s)
Neoplasias Hematológicas , Trastornos Mieloproliferativos , Neoplasias Cutáneas , Células Dendríticas , Neoplasias Hematológicas/diagnóstico , Neoplasias Hematológicas/tratamiento farmacológico , Humanos , Subunidad alfa del Receptor de Interleucina-3 , Proteínas Recombinantes de Fusión , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/tratamiento farmacológicoRESUMEN
Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) are poor outcome leukemias. Its diagnosis is based on clinical, cytogenetic, and cytomorphologic criteria, last criterion being sometimes difficult to assess. A high frequency of ASXL1 mutations have been described in this leukemia. We sequenced ASXL1 gene mutations in 61 patients with AML-MRC and 46 controls with acute myeloid leukemia without other specifications (AML-NOS) to identify clinical, cytomorphologic, and cytogenetic characteristics associated with ASXL1 mutational status. Mutated ASXL1 (ASXL1+) was observed in 31% of patients with AML-MRC compared to 4.3% in AML-NOS. Its presence in AML-MRC was associated with older age, a previous history of myelodysplastic syndrome (MDS) or myelodysplastic/myeloproliferative neoplasms (MDS/MPN), leukocytosis, presence of micromegakaryocytes in bone marrow, lower number of blasts in bone marrow, myelomonocytic/monocytic morphological features and normal karyotype. ASXL1 mutation was not observed in patients with myelodysplastic syndrome-related cytogenetic abnormalities or TP53 mutations. Differences in terms of overall survival were found only in AML-MRC patients without prior MDS or MDS/MPN and with intermediate-risk karyotype, having ASXL1+ patients a worst outcome than ASXL1-. We conclude that the ASXL1 mutation frequency is high in AML-MRC patients being its presence associated with specific characteristics including morphological signs of dysplasia. This association raises the possible role of ASXL1 as a surrogate marker in AML-MRC, which could facilitate the diagnosis of patients within this group when the karyotype is normal, and especially when the assessment of multilineage dysplasia morphologically is difficult. This mutation could be used as a worst outcome marker in de novo AML-MRC with intermediate-risk karyotype.
Asunto(s)
Biomarcadores de Tumor/genética , Médula Ósea/patología , Aberraciones Cromosómicas , Leucemia Mieloide Aguda/patología , Mutación , Síndromes Mielodisplásicos/patología , Proteínas Represoras/genética , Adulto , Anciano , Anciano de 80 o más Años , Médula Ósea/metabolismo , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Cariotipo , Leucemia Mieloide Aguda/genética , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/genética , Pronóstico , Tasa de SupervivenciaAsunto(s)
Anemia/patología , Médula Ósea/patología , Eritema Infeccioso/patología , Eritroblastos/ultraestructura , Mitosis , Complicaciones Posoperatorias/patología , Adulto , Anemia/etiología , Cromosomas Humanos/ultraestructura , Células Gigantes/ultraestructura , Humanos , Huésped Inmunocomprometido , Trasplante de Riñón , Masculino , Poliploidía , Complicaciones Posoperatorias/virologíaAsunto(s)
Adalimumab/efectos adversos , Antiinflamatorios/efectos adversos , Médula Ósea/patología , Forma del Núcleo Celular/efectos de los fármacos , Enfermedad de Crohn/tratamiento farmacológico , Eosinofilia/patología , Eosinófilos/patología , Médula Ósea/efectos de los fármacos , Eosinofilia/inducido químicamente , Eosinófilos/efectos de los fármacos , Femenino , Humanos , Persona de Mediana Edad , PronósticoAsunto(s)
Células de la Médula Ósea , Neoplasias de la Médula Ósea , Carcinoma Neuroendocrino , Eritrocitos , Neutrófilos , Fagocitosis , Células de la Médula Ósea/metabolismo , Células de la Médula Ósea/patología , Neoplasias de la Médula Ósea/metabolismo , Neoplasias de la Médula Ósea/patología , Carcinoma Neuroendocrino/metabolismo , Carcinoma Neuroendocrino/patología , Eritrocitos/metabolismo , Eritrocitos/patología , Femenino , Humanos , Persona de Mediana Edad , Neutrófilos/metabolismo , Neutrófilos/patologíaAsunto(s)
Anemia Diseritropoyética Congénita/patología , Núcleo Celular/patología , Síndromes Mielodisplásicos/patología , Anemia Diseritropoyética Congénita/diagnóstico , Biomarcadores , Médula Ósea/patología , Células de la Médula Ósea/patología , Humanos , Masculino , Persona de Mediana Edad , Síndromes Mielodisplásicos/diagnósticoRESUMEN
OBJECTIVE: MLL gene is involved in more than 80 known genetic fusions in acute leukemia. To study the relevance of MLL partner gene and selected gene's expression, in this work, we have studied a cohort of 20 MLL-rearranged acute myeloid leukemia (AML). METHODS: Twenty MLL-rearranged AML patients along with a control cohort of 138 AML patients are included in this work. By RT-PCR and sequencing, MLL genetic fusion was characterized, and relative gene expression quantification was carried out for EVI1, MEIS1, MLL-3', RUNX1, SETBP1, HOXA5, and FLT3 genes. Risk stratification and association of MLL genetic partner and gene expression to overall survival, in the context of received therapy, were performed. RESULTS: MLLr cohort showed to have an OS more similar to intermediate-risk AML. Type of MLL genetic partner showed to be relevant in allo-HSCT response; having MLLT1 and MLLT3, a better benefit from it. Expression of MLL-3' region, EVI1 and FLT3, showed association with OS in patients undergoing allo-HSCT. CONCLUSION: We show that the MLL genetic partner could have implications in allo-HSCT response, and we propose three genes whose expression could be useful for the prognosis of this leukemia in patients undergoing allo-HSCT: 3' region of MLL, EVI1, and FLT3.