Myelodysplastic syndromes (MDSs) are a heterogeneous group of hematopoietic stem cell diseases categorized by dysplasia in one or more hematopoietic cell lineages, as well as cytopenia and functional abnormalities in bone marrow cells. Several MDS classification methods have been proposed to categorize the disease and help professionals better plan in patients’ treatment. The World Health Organization classification, released in 2008 and revised in 2016, is the currently and the most used classification method worldwide. Recent advances in MDS molecular biology and innovations in flow cytometry have enabled the development of new parameters for MDS diagnosis and classification. Several groups have published flow cytometry scores and guidelines useful for the diagnosis and/or prognosis of MDS, which are mostly based on detecting immunophenotypic abnormalities in granulocyte, monocyte, and lymphoid lineages. Here, we review the current literature and discuss the main parameters that should be analyzed by flow cytometry with the aim of refining MDS diagnosis and prognosis. Furthermore, we discuss the critical role of flow cytometry and molecular biology in MDS diagnosis and prognosis, as well as the current challenges and future perspectives involving these techniques.

Lymphocytes belong to the lymphoid lineage and are considered as divergent from other blood cells lineages as those from the myeloid or erythroid lineage. Lymphoid hematopoiesis is not trivial, because although lymphocytes are found in the bloodstream and their precursor originates in the bone marrow, they mainly belong to the separate lymphatic system, which interacts with the blood circulation. We will discuss B cell differentiation in the bone marrow and the later stages of maturation in secondary lymphoid tissues, besides the B cell profiles in interfollicular, perifollicular, and follicular areas. In addition, we will also discuss T-cell precursor and natural killer cells derivation in the marrow. Furthermore, we will also discuss T-cell precursor migration to thymus, differentiation, rearrangement, thymic selection, involved transcription factors, and, finally, T-cell profiles and subsets in secondary lymphoid organs. We will provide flow cytometry plots showing strategies to identify and characterize NK, T and B lymphocytes and their subsets in circulation. Furthermore, we will provide illustrations to help the reader to understand and visualize the information provide over the chapter. Furthermore, the comprehension about lymphocytes and their contribution to the immune response will favor their application in developmental hematology and immunology. These topics are very important for the continuous development of knowledge.

IntroductionInfiltration of the central nervous system (CNS) by hematologic or lymphoid malignant cells can cause extensive neurological damage, be progressive and fatal. However, usually, the cerebrospinal fluid (CSF) has low cellularity and rapid cell degeneration, which can impair cytometry analysis. Storage and transport measures, sample preparation, and staining protocols can interfere with diagnostic accuracy.ObjectiveTo calculate the diagnostic performance of flow cytometry (FC) using a cell stabilizer for sample preservation compared to cytomorphology in the detection of CNS infiltration by lymphoid and hematologic neoplasms.MethodsCell samples from all consecutive patients with suspected infiltration by hematological malignancies evaluated between January 2014 and December 2016 were included. Cases were analyzed by FC using a cell preservation medium and cytomorphology. Sensitivity and specificity were calculated.ResultsFrom 414 CSF samples, 72 had a phenotype compatible with characteristics of infiltration by hematological disease, whereas cytology was positive for 35 cases. FC showed higher sensitivity and specificity when compared to cytomorphology, particularly in cases with cellularity under 5 leukocytes/mm3.ConclusionWe demonstrated that collecting CSF in a medium that preserves the stability of the sample improves accuracy when compared to cytomorphology, particularly in low-volume and low-cellularity samples.

RESUMO: Objetivo: Descrever a prevalência das hemoglobinopatias da população adulta brasileira, segundo exames laboratoriais da Pesquisa Nacional de Saúde. Métodos: Estudo descritivo realizado com os dados laboratoriais da Pesquisa Nacional de Saúde coletados entre os anos de 2014 e 2015. A pesquisa de hemoglobinopatias foi feita pelo método da cromatografia líquida de alto desempenho. Os resultados dos exames individuais foram interpretados fornecendo os parâmetros normais, homozigotos ou heterozigotos para hemoglobina S, C e D, além de outras eventuais hemoglobinopatias. Foram estimadas prevalências das hemoglobinopatias segundo sexo, cor da pele, região, idade e escolaridade. Resultados: Houve presença de hemoglobinopatias em 3,7% da população. As principais foram o traço falciforme (2,49%), a talassemia menor (0,30%) e a suspeita de talassemia maior (0,80%). Em relação ao traço falciforme e à suspeita de talassemia maior, houve diferença estatisticamente significativa para a variável cor da pele (p < 0,05). As prevalências encontradas para traço falciforme segundo cor de pele foram: preta (4,1%), parda (3,6%), branca (1,2%) e outras (1,7%). Conclusão: As hemoglobinopatias mais prevalentes foram o traço falciforme e a talassemia menor, predominando entre pretos e pardos. O estudo ajuda na identificação das hemoglobinopatias e no aconselhamento genético na preconcepção.

RESUMO: Objetivo: Verificar a prevalência de anemia em adultos e idosos brasileiros. Métodos: Foram utilizados dados provenientes de exames laboratoriais da Pesquisa Nacional de Saúde. Trata-se de um estudo transversal no qual foram incluídos 8.060 indivíduos com idades acima de 18 anos de todos os estados brasileiros. Foram estudados os seguintes indicadores obtidos por meio de eritrograma: dosagem de hemoglobina, volume corpuscular médio (VCM), hemoglobina corpuscular média (HCM) e red cell distribution width (RDW). Utilizaram-se as recomendações da Organização Mundial da Saúde, que consideram anemia o nível de hemoglobina menor que 13,0 g/dL para homens e menor que 12,0 g/dL para mulheres. As informações sociodemográficas foram obtidas por meio de entrevista. Resultados: A prevalência de anemia entre adultos e idosos brasileiros foi de 9,9%. Maiores prevalências de anemia e casos mais graves foram encontrados entre mulheres, idosos, pessoas de baixa escolaridade e de cor de pele preta e residentes das regiões Norte e Nordeste. Anemia normocítica e normocrômica foi o tipo mais comum (56,0%). Conclusão: A prevalência de anemia está de acordo com a literatura. Destaca-se que maiores prevalências foram observadas nas populações mais desfavorecidas e entre os idosos. Considerando o crescimento da população acima de 60 anos no país, intervenções para tratar e prevenir a anemia em adultos e idosos se fazem necessárias na rede de serviços de saúde.