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1.
Medicina (B.Aires) ; 81(3): 438-451, jun. 2021. graf
Article in Spanish | LILACS | ID: biblio-1346482

ABSTRACT

Resumen Las infecciones fúngicas invasoras (IFI) constituyen una de las principales complicaciones infecciosas en pacientes oncohematológicos y con trasplante de células progenitoras hematopoyéticas (TCPH), ocasionando alta morbimortalidad e incrementando significativamente los costos de atención y la estadía hos pitalaria. La epidemiología de las IFI ha cambiado en las últimas décadas, siendo los hongos filamentosos, particularmente Aspergillus spp., los principales agentes etiológicos. Existen múltiples factores de riesgo para una IFI; pero la neutropenia profunda y prolongada, y la inmunodeficiencia celular severa siguen siendo los más importantes. Por este motivo, la población de mayor riesgo la constituyen los pacientes con leucemias agudas, mielodisplasias y TCPH alogénicos con enfermedad injerto contra huésped (EICH), en tratamiento con corticoides. Numerosos ensayos clínicos aleatorizados y metaanálisis han demostrado que la profilaxis antifúngica primaria (PAF) reduce significativamente la incidencia de IFI, tanto de aquellas causadas por Candida spp. como por Aspergillus spp., la mortalidad relacionada a IFI y la mortalidad global en algunos grupos de pacientes. Asimismo, en enfermos de alto riesgo, en donde se espera una incidencia de IFI elevada, es una estrategia costo-efectiva. Varios antifúngicos han demostrado beneficio clínico y pueden utilizarse como estrategia de PAF en diferentes escenarios, presentando ventajas y desventajas que deben ser tenidas en cuenta al momento de indicar una PAF. Para esto, sociedades científicas nacionales e internacionales, han emitido recomendaciones de indicación de PAF. Se analizan los aspectos relacionados con la eficacia clínica de los diferentes antifúngicos según la población de riesgo, las potenciales desventajas, momento y forma de administración.


Abstract Invasive fungal infections (IFI) are among the main infectious complications in patients with hema tological malignancies and with hematopoietic stem cell transplant (HSCT), causing high morbidity and mortality and significantly increasing the healthcare cost and hospital stay. The epidemiology of IFIs has changed in recent decades, with filamentous fungi, particularly Aspergillus spp., being the main etiological agents. There are multiple risk factors for having an IFI; however, the most important are profound and prolonged neutropenia and severe cellular immunodeficiency. For this reason, the population at greatest risk is made up of patients with acute leukemias, myelodysplasias and allogeneic HSCT with graft-versus-host disease (GVHD) treated with cortico steroids. Numerous randomized clinical trials and meta-analyses have shown that primary antifungal prophylaxis (AFP) significantly reduces the incidence of IFI, particularly those caused by Candida spp. and Aspergillus spp., IFI-related mortality, and overall mortality in some group of patients. Likewise, in high-risk patients, where a high incidence of IFI is expected, it is a cost-effective strategy. Several antifungals have demonstrated clinical benefit. They can be used as a AFP strategy in different settings, presenting advantages and disadvantages that must be taken into account in each case. For this, national and international scientific societies have issued recom mendations for the indication of AFP. Aspects related to the different antifungals' clinical efficacy are analyzed considering the population at risk, the potential disadvantages, timing, and form of administration.


Subject(s)
Humans , Myelodysplastic Syndromes , Hematopoietic Stem Cell Transplantation/adverse effects , Graft vs Host Disease , Neutropenia/drug therapy , Antifungal Agents/therapeutic use
2.
Rev. Hosp. Ital. B. Aires (2004) ; 41(1): 26-30, mar. 2021. ilus
Article in Spanish | LILACS | ID: biblio-1178336

ABSTRACT

El pioderma gangrenoso ampollar es una variedad infrecuente de pioderma gangrenoso, que se asocia en el 50-70% de los casos con trastornos oncohematológicos. Se comunica el caso de una paciente de 59 años, que consultó por fiebre y ampollas purpúricas de rápida progresión, con compromiso cutáneo mucoso. Con sospecha de una enfermedad neutrofílica, ampollar, o infección por gérmenes oportunistas, se realizó biopsia de piel para estudio histopatológico, inmunofluorescencia directa y cultivo. Los cultivos y la inmunofluorescencia directa fueron negativos, y la anatomía patológica reveló un denso infiltrado inflamatorio con predominio neutrofílico en dermis. Ante el diagnóstico de pioderma gangrenoso ampollar, se realizó una punción-aspiración de médula ósea cuyo resultado fue compatible con leucemia mieloide aguda. Se instauró tratamiento con corticosteroides sistémicos, a pesar de lo cual la paciente evolucionó desfavorablemente y falleció a los 15 días de su ingreso hospitalario. Este caso ilustra la asociación de esta enfermedad cutánea con trastornos oncohematológicos y el mal pronóstico que esto implica a corto plazo. (AU)


Bullous pyoderma gangrenosum is an infrequent type of pyoderma gangrenosum, associated with onco hematological diseases in 50-70% of cases. We present the case of a 59-year-old patient with fever and mucocutaneous hemorrhagic bullous of rapid progression. A biopsy for histopathology, direct immunofluorescence (DIF) and skin culture was made, considering the possibility of neutrophilic dermatoses, bullous dermatosis or an opportunistic infection. The results of both the culture and the DIF were negative. The histopathological examination of the specimen revealed a dense dermal polymorphic infiltrate composed primarily of neutrophils. Considering bullous pyoderma gangrenosum as a potential diagnosis, a bone-marrow biopsy was performed. This study revealed an acute myeloid leukemia. Although systemic corticosteroid therapy was begun, the patient presented an unfavorable evolution that led to her death 15 days after her admission at the hospital. This case shows the association between bullous pyoderma gangrenosum and onco hematological diseases. In addition, it highlights the poor prognosis related to these diseases in the short term. (AU)


Subject(s)
Humans , Female , Middle Aged , Leukemia, Myeloid, Acute/pathology , Pyoderma Gangrenosum/diagnosis , Paraneoplastic Syndromes/pathology , Respiration, Artificial , Azacitidine/therapeutic use , Myelodysplastic Syndromes/pathology , Acyclovir/administration & dosage , Methylprednisolone/administration & dosage , Vancomycin/administration & dosage , Cardiotonic Agents/therapeutic use , Ceftazidime/administration & dosage , Amphotericin B/administration & dosage , Imipenem/administration & dosage , Sweet Syndrome/etiology , Pyoderma Gangrenosum/etiology , Pyoderma Gangrenosum/pathology , Pyoderma Gangrenosum/drug therapy , Adrenal Cortex Hormones/therapeutic use , Meropenem/administration & dosage
3.
Rev. cuba. hematol. inmunol. hemoter ; 37(1): e1310, ene.-mar. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1251720

ABSTRACT

Introducción: Los síndromes mielodisplásicos constituyen un grupo heterogéneo de desórdenes hematológicos clonales adquiridos, que afectan la célula madre. Se caracterizan morfológicamente por: hematopoyesis ineficaz, citopenias periféricas progresivas, displasia en uno o más linajes celulares y tendencia evolutiva a leucemia aguda. Los avances recientes en la comprensión de los mecanismos genéticos y moleculares de los síndromes mielodisplásicos, han revelado la asociación entre alteraciones inmunológicas y las mutaciones recurrentes. Las células de la respuesta inmune innata y adaptativa, así como diversos mediadores solubles liberados por ellas, pueden establecer una respuesta antitumoral protectora o, por el contrario, inducir eventos de inflamación crónica que favorezcan la promoción y progresión de esta enfermedad. Objetivos: Resumir los conocimientos actuales de la relación sistema inmune-síndromes mielodisplásicos, enfatizando en las células inmunes del microambiente de la médula ósea y su importancia en la clínica de la enfermedad. Métodos: Se realizó investigación bibliográfica-documental acerca del tema. Se consultaron las bases de datos Scielo y Pubmed. Conclusiones: La comprensión de la función dual que ejerce el sistema inmune en los síndromes mielodisplásicos, constituye un desafío y son necesarios estudios clínicos rigurosos para poder establecer el valor de la manipulación del sistema inmune como una forma posible de tratamiento de esta enfermedad(AU)


Introduction: Myelodysplastic syndromes (MDS) constitute a heterogeneous group of acquired clonal hematological disorders that affect the stem cell. These are characterized morphologically and clinically by: ineffective hematopoiesis, progressive peripheral cytopenia, dysplasia in one or more cell lineages, in most of cases and evolutionary tendency to acute leukemia. Recent advances in understanding the genetic and molecular mechanisms of MDS have revealed the association between immunological alterations and recurrent mutations. Cells of the innate and adaptive immune response, as well as various soluble mediators released by them, can establish a protective antitumor response or, on the contrary, induce events of chronic inflammation that favor the promotion and progression of this disease. Objective: To summarize the current knowledge of the immune system-MDS relationship, emphasizing the immune cells of the bone marrow microenvironment and their importance in the clinic of the disease. Methods: A bibliographic-documentary research was carried out on the subject. The Scielo and Pubmed databases were consulted. Conclusions: Understanding the dual role of the immune system in MDS constitutes a challenge and rigorous clinical studies are necessary to establish the value of manipulating the immune system as a possible form of treatment of this disease(AU)


Subject(s)
Humans , Stem Cells , Myelodysplastic Syndromes/complications , Leukemia , Adaptive Immunity , Hematopoiesis/genetics , Immune System/physiopathology , Inflammation/diagnosis
4.
Journal of Experimental Hematology ; (6): 1002-1006, 2021.
Article in Chinese | WPRIM | ID: wpr-880183

ABSTRACT

Emerging data have demonstrated that bone marrow mesenchymal stem cells (MSCs) play important roles in the progression of myelodysplastic syndrome (MDS). Experiments in vitro have showed that MSCs derived from MDS patients (MDS-MSC) exhibit the biological characteristics of cell senescence. Although the underlying mechanisms that regulate cell senescence need to be further elucidated, existing researches indicate that the mechanisms of MDS-MSC senescence have significant heterogeneity. Depth understanding of the underlying mechanisms involved in cell senescence of MDS-MSC are crucial to explore the potential therapeutic target of MDS. Therefore, this review summarizes research advances related with MSC senescence, such as MDS-MSC intrinsic changes in telomere shortening, DNA methylation status, oxidative stress and signal pathways regulating cell senescence in recent years.


Subject(s)
Bone Marrow , Bone Marrow Cells , Cellular Senescence , Humans , Mesenchymal Stem Cells , Myelodysplastic Syndromes
5.
Article in Chinese | WPRIM | ID: wpr-880156

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics and prognosis of patients with medium and high risk myelodysplastic syndrome (MDS).@*METHODS@#97 MDS patients above the age of 60 treated in Nanfang Hospital, Southern Medical University from February 2011 to August 2020 were enrolled. The clinical characteristics and prognosis of the MDS patients with medium risk, high risk or very high risk based on IPSS-R category were retrospectively analyzed. According to the difference of treatment regimes, the patients were divided into the transplantation group, chemotherapy group and other treatment group, and the efficacy among the patients in the 3 groups were analyzed.@*RESULTS@#MDS with excess blast (MDS-EB) in the elderly patients with medium and high risk MDS were the most common, 47.4% of the patients with abnormal chromosome karyotypes, and 23.7% with complex karyotypes (≥3). 97.3% of the patients showed at least one gene mutation, and TP53 mutations were detected in nearly 20% of the patients with medium and high risk. Multivariate analysis showed that IPSS-R category and treatment regimes were the factors affecting the prognosis of elderly patients with medium and high risk MDS. The median overall survival (OS) time of the patients in the 3 groups showed significant difference (P=0.012), and the median OS of the patients in the transplantation group was significantly longer than that in the chemotherapy group and other group (P=0.003,P=0.014,respectively), while there was no significant difference in median OS between chemotherapy group and other treatment group (P=0.685).@*CONCLUSION@#Elderly MDS patients with medium and high risk can benefit from allogeneic hematopoietic stem cell transplantation, which will prolong their OS.


Subject(s)
Aged , Chromosome Aberrations , Hematopoietic Stem Cell Transplantation , Humans , Myelodysplastic Syndromes , Prognosis , Retrospective Studies
6.
Article in Chinese | WPRIM | ID: wpr-880155

ABSTRACT

OBJECTIVE@#To investigate the quantitative expression of immunophenotype of CD34@*METHODS@#Multi-parameter flow cytometry (FCM) was used to detect the proportion and mean fluorescence intensity (MFI) of each antigen of bone marrow CD34@*RESULTS@#Bone marrow blast cell proportion (P<0.01), RBC level (P<0.01), and Hb level (P<0.05) of high-risk MDS patients were higher, while EPO level (P<0.05) was lower than those of low-risk patients. The proportion of CD34@*CONCLUSION@#The immunophenotype of CD34


Subject(s)
Antigens, CD34 , Bone Marrow , Bone Marrow Cells , Flow Cytometry , Humans , Immunophenotyping , Myelodysplastic Syndromes
7.
Article in Chinese | WPRIM | ID: wpr-880049

ABSTRACT

OBJECTIVE@#To analyze clinical effectiveness of myelodysplastic syndrome (MDS) patients treated by allogeneic hematopoietic stem cell transplantation (allo-HSCT), and to investigate new therapy strategy for the treatment of relapse after allo-HSCT.@*METHODS@#72 MDS patients treated by HSCT in our hospital from April 2013 to November 2019 were enrolled and analyzed retrospectively. The effect of allo-HSCT was summarized. The risk factors affecting the survival and relapse of the patients were investigated.@*RESULTS@#Among 72 patients, the median follow up was 37(12-111) months. 57 patients survived(79.2%),while 15 patients died(20.8%). The 5-year overall survival (OS) rate and 5-year disease-free survival (DFS) rate were 76.6% and 62.3%, respectively. IPSS-R, TP53 mutation and chronic graft versus-host-disease (cGVHD) were the risk factors affecting the OS of the MDS patients after treated by allo-HSCT. IPSS-R, TP53 mutation and Ⅲ-Ⅳ° acute graft versus-host-disease (aGVHD) were the risk factors affecting the DFS of the MDS patients after treated by allo-HSCT. After transplanted, 19 patients (26.4%) emerged aGVHD, and 5 patients (6.9%) emerged Ⅲ-Ⅳ° aGVHD, 25 patients (34.7%) emerged cGVHD, while 4 patients (5.6%) emerged extensive cGVHD. 17 patients (23.3%) relapsed, and the 5-year cumulative incidence of relapse (CIR) rate was 27.5%. IPSS-R, TP53 mutation and cGVHD were the risk factors affecting the relapse of the patients. The median survival time after relapse was 9 months. There were 7 out of 17 relapsed patients survived without disease, while 10 patients died. The OS rate of patients treated with maintained hypomethylation agents(HMA) combined with G-CSF mobilized donor lymphocyte infusion (DLI) was significantly higher than the patients without HMA (80.0% vs 10.0%, P=0.002).@*CONCLUSION@#Allo-HSCT is an effective therapy for intermediate and high risk MDS patients. But relapse after HSCT is still a major problem that affecting the survival of the patients. Maintenance treatment of HMA combined with DLI may improve the long-time survival of MDS patients with relapsed after treated by allo-HSCT.


Subject(s)
Graft vs Host Disease , Hematopoietic Stem Cell Transplantation , Humans , Myelodysplastic Syndromes , Retrospective Studies , Treatment Outcome
8.
Article in Chinese | WPRIM | ID: wpr-879845

ABSTRACT

OBJECTIVE@#To study the clinical features and prognosis of childhood acute myeloid leukemia with myelodysplasia-related changes (AML-MRC).@*METHODS@#A retrospective analysis was performed on the medical data of 14 children who were diagnosed with AML-MRC from June 2014 to March 2020, including clinical features, laboratory examination results, and prognosis.@*RESULTS@#Among the 14 children with AML-MRC, there were 9 boys and 5 girls, with a median age of 11 years (range: 1-17 years), a median leukocyte count of 8.3×10@*CONCLUSIONS@#Childhood AML-MRC is often observed in boys, and AML-M5 is the most common type based on FAB classification. Such children tend to have a poor prognosis. HSCT is expected to improve the poor prognosis of children with AML-MRC. However due to the small number of cases, it is necessary to increase the number of cases for further observation.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Hematopoietic Stem Cell Transplantation , Humans , Infant , Leukemia, Myeloid, Acute/therapy , Male , Myelodysplastic Syndromes/therapy , Prognosis , Retrospective Studies
9.
Autops. Case Rep ; 11: e2021274, 2021. tab, graf
Article in English | LILACS | ID: biblio-1249018

ABSTRACT

Background Myelodysplastic syndromes (MDS) mainly occur in the elderly but can rarely affect younger individuals too. The correct diagnosis relies on careful morphologic evaluation, cytogenetic/molecular results, and excluding reactive conditions mimicking MDS. We present the clinical, pathologic, cytogenetic, and molecular features of a case of MDS with excess blasts-2 (MDS-EB-2) in a 30-year-old male who was found to have pancytopenia during his hospitalization for coronavirus disease 2019 (COVID-19) and discuss the diagnostic challenges of MDS in patients with COVID-19. Case presentation A 30-year-old man presented to an outside hospital with fever, chills, weakness, coughing spells, dizziness and shortness of breath and was diagnosed with bilateral pneumonia due to COVID-19. At the outside hospital, he was found to be pancytopenic, and a subsequent bone marrow aspiration and biopsy raised concern for a COVID-19 induced hemophagocytic lymphohistiocytosis. In addition, MDS could not be ruled out. The patient was thus referred to our institute for further management. The patient's peripheral blood showed pancytopenia with occasional dysplastic neutrophils and a few teardrop cells. Given the diagnostic uncertainty, a bone marrow aspiration and a biopsy were repeated revealing a hypercellular bone marrow with erythroid hyperplasia, megakaryocytic hyperplasia, trilineage dysplasia, increased blasts (13%), many ring sideroblasts, and mild to moderate myelofibrosis, consistent with MDS-EB-2. Chromosomal analysis revealed isochromosome 14. Next generation sequencing demonstrated SF3B1 K700E mutation. Discussion and conclusion The diagnosis of MDS can be challenging, particularly in young patients. Cytopenia and myelodysplastic features have been reported in COVID-19 patients, making the diagnosis of MDS more elusive. A careful pathologic examination of the bone marrow with ancillary studies including flow cytometry, immunohistochemistry, and cytogenetic and molecular studies in combination with a thorough clinical evaluation, leads to the accurate diagnosis.


Subject(s)
Humans , Male , Adult , Myelodysplastic Syndromes/pathology , Bone Marrow , Cytogenetics , COVID-19
10.
Rev. bras. ciênc. saúde ; 24(3): 465-474, set. 25, 2020. tab
Article in Portuguese | LILACS, ColecionaSUS, CONASS, SES-MA | ID: biblio-1179431

ABSTRACT

Objetivo: Avaliar o perfil nutricional de pacientes onco-hematológicos internados em um hospital especializado em câncer em São Luís - MA. Metodologia: Estudo transversal, retrospectivo, analítico, com coleta de dados secundária, envolvendo pacientes com idade mínima de 18 anos, de ambos os gêneros e que tenham sido submetidos a pelo menos uma ASG-PPP (Avaliação Subjetiva Global Produzida Pelo Paciente). Os dados foram coletados em registros do Serviço de Nutrição e Dietética do hospital. Analisaram-se dados demográficos (gênero e idade), clínicos (diagnóstico) e nutricionais: Índice de massa corporal (IMC), circunferên-cia braquial (CB), prega cutânea tricipital (PCT), circunferência muscular do braço (CMB) e ASG-PPP. As análises foram realizadas no programa estatístico Stata® 13.0. O nível de significância utilizado para os testes foi de p<0,05. Resultados: Foram avaliados 330 pacientes, onde foi constatado que 67,58% eram de adultos e 32,42% de idosos, com maior frequência do sexo masculino, com 60,30%. Ocorreu maior incidência de leucemia (58,48%), seguidos de linfomas (24,85%), mieloma múltiplo (13,33%) e síndrome mielodisplásica (3,3%). Na avaliação do estado nutricional os resultados mostraram que a ASG-PPP detectou maior número de pacientes com algum grau de desnutrição do que outros indicadores (93,94%), seguido pela PCT (65,76%), CMB (53,64%), CB (45,45%) e IMC (14,87%). De acordo com o IMC, foi encontrado maior incidência de eutrofia, correspondendo a 57,27% da amostra. Conclu-são: Diante do que foi encontrado, destaca-se que a desnutrição é um aspecto de extrema importância a ser considerado no tratamento de pacientes onco-hematológicos, visto que pode interferir diretamente no prognóstico da doença. (AU)


Objective: To evaluate the nutritional profile of onco-hematological patients admitted to a specialized cancer hospital in São Luís - MA. Methodology: Cross-sectional, retrospective, analytical study, with secondary data collection, involving patients aged at least 18 years, of both genders and having undergone at least one ASG-PPP (Subjective Global Assessment Produced by the Patient). Data were collected from records of the Hospital's Nutrition and Dietetics Service. Demographic (gender and age), clinical (diagnostic) and nutritional: Body Mass Index (BMI), Brachial Circumference (CB), Tricipital Skinfold (PCT), Muscular Arm Circumference (CMB) and ASG-PPP data were analyzed. The analyses were performed using the Stata® 13.0 statistical program. The level of significance used for the tests was p<0.05. Results: 330 patients were evaluated, in which it was found that 67.58% are adults and 32.42% are elderly, with a higher frequency of males with 60.30%. There was a higher incidence of Leukemia (58.48%), followed by Lymphomas (24.85%), Multiple Myeloma (13.33%) and Myelodysplastic Syndrome (3.3%). In the assessment of nutritional status, the results showed that ASG-PPP detected a greater number of patients with some degree of malnutrition than other indicators (93.94%), followed by PCT (65.76%), CMB (53.64%), CB (45.45%) and BMI (14.87%). According to the BMI, a higher incidence of eutrophy was found, which corresponds to 57.27% of the sample. Conclusion: In view of what was found, it is highlighted that malnutrition is an extremely important aspect to be considered in the treatment of onco-hematological patients, since it can directly interfere in the prognosis of the disease. (AU)


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Myelodysplastic Syndromes , Leukemia , Body Mass Index , Nutritional Status , Morbidity , Malnutrition , Diagnosis , Nutritional Sciences , Lymphoma , Neoplasms , Patients , Therapeutics , Cancer Care Facilities , Records , Demographic Data , Public-Private Sector Partnerships
11.
Rev. cuba. hematol. inmunol. hemoter ; 36(3): e1135, jul.-set. 2020. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1156435

ABSTRACT

Introducción: El comportamiento heterogéneo de los síndromes mielodisplásicos, así como los progresos en los últimos años en el campo de la genética y la biología molecular, han provocado la aparición de múltiples investigaciones con diferentes enfoques terapéuticos. Los agentes hipometilantes son hasta el momento el tratamiento estándar para esta entidad, pero desafortunadamente no son efectivos en el 100 % de los casos y la duración de su respuesta es variable. Objetivo: Analizar las opciones terapéuticas actuales para el tratamiento de los síndromes mielodisplásicos. Métodos: Se realizó una revisión de la literatura, en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico de artículos publicados en los últimos 5 años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: Actualmente existen múltiples opciones de tratamiento, la mayor parte dirigidos contra los eventos epigenéticos fundamentales: la hipermetilación, la modificación de las histonas diacetilasa y la activación de la respuesta inmune citotóxica contra clones anormales. Sin embargo, como no se ha establecido una única alteración, los tratamientos en la mayoría de los protocolos se adaptan al riesgo, incluyen un número reducido de casos y los resultados son limitados. Conclusiones: Se considera que una posible solución es dirigir el tratamiento a la alteración específica con base en las alteraciones moleculares y la medicina de precisión, fundamentalmente en los pacientes refractarios o en recaída postratamiento con los actuales agentes hipometilantes(AU)


Introduction: The heterogeneous characteristics of myelodysplastic syndromes, as well as the progress in recent years in the field of genetics and molecular biology, have led to the appearance of multiple investigations with different therapeutic approaches. Hypomethylating agents are so far the standard treatment for this entity, but unfortunately they are not effective in 100% of cases and the duration of their response is variable. Objective: To analyze current therapeutic options for the treatment of myelodysplastic syndromes. Methods: A literature review was carried out, in English and Spanish, through the PubMed website and the Google Scholar search engine, for articles published in the last five years. An analysis and summary of the revised bibliography was carried out. Information analysis and synthesis: Currently, there are multiple treatment options, most of which are directed against fundamental epigenetic events: hypermethylation, modification of histone diacetylase, and activation of the cytotoxic immune response against abnormal clones. However, as long as a single alteration has not been established, treatments, in most protocols, are adapted to risk and include a small number of cases, while their outcomes are limited. Conclusions: It is considered that a possible solution is to direct treatment to specific alteration based on molecular alterations and precision medicine, fundamentally in refractory or relapsed patients after treatment with current hypomethylating agents(AU)


Subject(s)
Humans , Myelodysplastic Syndromes/therapy , Epigenomics/methods , Molecular Biology , Precision Medicine
12.
Rev. argent. reumatolg. (En línea) ; 31(2): 42-44, jun. 2020. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1143931

ABSTRACT

Los síndromes mielodisplásicos son un grupo heterogéneo de enfermedades hematológicas, caracterizadas por hematopoyesis ineficaz con riesgo de progresión a leucemia mieloide aguda. Pueden asociarse a manifestaciones autoinmunes en un 10-30% de los pacientes, apareciendo antes, durante o luego del diagnóstico del trastorno hematológico. La prevalencia de policondritis recidivante como fenómeno paraneoplásico es de 0,7-5,4%, presentándose de forma simultánea en la mayoría de los casos. Otros procesos autoinmunes asociados incluyen: vasculitis sistémica, poliartritis seronegativa, dermatosis neutrofílica, citopenias inmunomediadas, presencia de autoanticuerpos y crioglobulinemia. Reportamos el caso de una mujer de 60 años, sin antecedentes patológicos previos, que presentó un cuadro de policondritis recidivante y vasculitis sistémica asociadas a síndrome mielodisplásico.


Myelodysplastic syndromes are a heterogeneous group of hematological diseases, characterized by ineffective hematopoiesis with risk of progression to acute myeloid leukemia. They can be associated to autoimmune manifestations in 10-30% of patients, appearing before, during or after the diagnosis of the hematological disorder. The prevalence of relapsing polychondritis as a paraneoplastic phenomenon is 0.7-5.4%, occurring simultaneously in the majority of cases. Other associated autoimmune processes include: systemic vasculitis, seronegative polyarthritis, neutrophilic dermatosis, immunomediated cytopenias, presence of autoantibodies and cryoglobulinemia. We report the case of a 60-year-old woman, with no previous medical history, who presented with recurrent polychondritis and systemic vasculitis associated with myelodysplasia.


Subject(s)
Humans , Myelodysplastic Syndromes , Polychondritis, Relapsing , Vasculitis
13.
Article in Chinese | WPRIM | ID: wpr-879493

ABSTRACT

OBJECTIVE@#To explore the genetic and clinical characteristics of near-tetraploidy/tetraploidy karyotype (NT/T) in patients with myelodysplastic syndrome (MDS).@*METHODS@#Cytogenetic findings of 1576 inpatients with primary MDS were retrospective analyzed, among which 9 were diagnosed with NT/T. Clinical data including gender, age, morphology, genetic feature and prognosis were analyzed.@*RESULTS@#The prevalence of MDS patients with NT/T (NT/T-MDS) among all cases was 0.57%. Karyotyping analysis suggested that eight MDS patients had sole NT/T, while the remainder one had a complex karyotype. In addition to the typical morphology of MDS, NT/T-MDS had unique morphology including huge blast, double-nuclear cell and irregular nuclear membrane. One NT/T-MDS patient gave up therapy, and the remaining eight underwent the first course of treatment, albeit with poor prognosis. Only one patient had complete remission, one had partial remission, three had no remission; and three had converted to acute myeloid leukemia.@*CONCLUSION@#NT/T-MDS is rare and has unique morphology. Generally, NT/T-MDS patients have poor prognosis. However, NT/T cannot be simply classified as high-risk group, but with consideration whether they have affected particular chromosomal structures as well as other clinical data.


Subject(s)
Humans , Karyotype , Leukemia, Myeloid, Acute/complications , Myelodysplastic Syndromes/pathology , Prognosis , Retrospective Studies , Tetraploidy
14.
Article in Chinese | WPRIM | ID: wpr-828722

ABSTRACT

OBJECTIVE@#To study the clinical features and genetic mutations of children with Shwachman-Diamond syndrome (SDS) and malignant myeloid transformation.@*METHODS@#Next-generation sequencing was used to analyze the gene mutations in 11 SDS children with malignant myeloid transformation, and their clinical features and genetic mutations were analyzed.@*RESULTS@#Of the 11 children with SDS, 9 (82%) presented with refractory cytopenia of childhood (RCC), 1 (9%) had myelodysplastic syndrome with excess blasts (MDS-EB), and 1 (9%) had acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). The median age of onset of malignant myeloid transformation was 48 months (ranged 7 months to 14 years). Of the 11 children, 45% had abnormalities in the hematological system alone. Mutations of the SBDS gene were detected in all 11 children, among whom 5 (45%) had c.258+2T>C homozygous mutation and 3 (27%) had c.184A>T+c.258+2T>C compound heterozygous mutation. The new mutations of the SBDS gene, c.634_635insAACATACCTGT+c.637_638delGA and c.8T>C, were rated as "pathogenic" and "possibly pathogenic" respectively. The 3-year predicted overall survival rates of children transformed to RCC and MDS-EB/AML-MRC were 100% and 0% respectively (P=0.001).@*CONCLUSIONS@#SDS children may have hematological system symptoms as the only manifestation, which needs to be taken seriously in clinical practice. The type of malignant transformation is associated with prognosis.


Subject(s)
Adolescent , Child , Child, Preschool , Exocrine Pancreatic Insufficiency , Humans , Infant , Leukemia, Myeloid, Acute , Mutation , Myelodysplastic Syndromes , Shwachman-Diamond Syndrome
15.
Article in Chinese | WPRIM | ID: wpr-827189

ABSTRACT

OBJECTIVE@#To investigate the influence of conventional CAG regimen and decitabine + decreased dose CAG (D+dCAG) regimen on the clinical efficacy and safety of patients with MDS-RAEB/AML-MRC.@*METHODS@#The clinical data of 67 patients with MDS-RAEB/AML-MRC hospitalized in our hospital from March 2012 to July 2017 were analyzed retrospectively. According to chemotherapecctic regimens, 76 patients were divided into 2 groups: 37 patients treated with conventional CAG regimen were enrolled in control group, 30 patients treated with decitabine + decreased dose CAG regimen were enrolled in D+dCAG group. The complete remission (CR) rate, overall remission rate (ORR), OS and PFS time and incidence of adverse reactions in 2 groups were compared.@*RESULTS@#The CR in D+dCAG group was significantly higher than that in control group (P<0.05). ORR was not significanly different between 2 groups (P>0.05). There was no significant difference in the cumulative OS rate between 2 groups (P>0.05). There was no significant difference in the cumulative OS rate and PFS rate in nonimplantation between 2 groups (P>0.05). The incidence of adverse reactions of hematological system, pulmonary infection, skin and soft tissue infection, agranulocytosic fever and mycotic infection was not significanly different between 2 groups (P>0.05). The duration of granulocyte deficiency and platelet count less than 20×10/L were not significanly different between 2 groups (P>0.05).@*CONCLUSION@#Compared with conventional CAG regimen, decitabine + decreased dose CAG regimen in the treatment of patients with MDS-RAEB/AML-MRC can efficiently improve the remission effects and showed the well overall safety, but can not increase the survival rate.


Subject(s)
Anemia, Refractory, with Excess of Blasts , Antineoplastic Combined Chemotherapy Protocols , Cytarabine , Decitabine , Granulocyte Colony-Stimulating Factor , Humans , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Retrospective Studies , Treatment Outcome
16.
Journal of Experimental Hematology ; (6): 1059-1063, 2020.
Article in Chinese | WPRIM | ID: wpr-827161

ABSTRACT

Abstract  Single cell sequencing technology is different from traditional sequencing method, which is based on population cell average level. It has been widely used in many fields and made great progress in the application of malignant hematological diseases. In this review, the principle, methodology and application of single cell sequencing technology in malignant hematological diseases are summarized briefly, including the study of the pathogenesis in myelodysplastic syndrome, the mechanism of transformation into leukemia, accurate diagnosis and classification, differential diagnosis, evaluation of targeted drug therapeutic efficacy and exploration of biomarkers; specific diagnostic indicators for myeloproliferative diseases, progression of disease monitoring and epidemiological studies; moreover, the pathogenesis and drug resistance of acute myeloid leukemia (AML), which can provide reference for the diagnosis and research of malignant hematological diseases.


Subject(s)
Hematologic Diseases , Humans , Leukemia, Myeloid, Acute , Myelodysplastic Syndromes , Myeloproliferative Disorders , Sequence Analysis
17.
Journal of Experimental Hematology ; (6): 1283-1291, 2020.
Article in Chinese | WPRIM | ID: wpr-827125

ABSTRACT

OBJECTIVE@#To analyze the effect of clinical features, routine laboratory examination and related gene mutation on the OS of patients with myelodysplastic syndrome (MDS) after hematopoietic stem cell transplantation (HSCT).@*METHODS@#121 patients diagnosed as MDS and underwent hematopoietic stem cell transplantation in the First Affiliated Hospital of Soochow University from October 2013 to August 2018 were selected. Basic information of the patients was collected, and blood cells, bone marrow blasts at initial diagnosis, chromosomal karyotypes and gene mutations of the patients were detected.The effect of different factors on overall survival (OS) was analyzed by statistical method.@*RESULTS@#Kaplan-Meier univariate analysis shows that OS was significanly different among different age groups. The 3-year OS rate of patients aged 0-29 years was (83.3±7.7) %, the 3-year OS rate in patients aged 30-49 years was (58.1±7.7 %), and the 3-year OS rate of patients aged 50-69 years was (31.0±22.6) %, which was statistically different (P<0.05) between different groups. There were also significant differences in OS among patients with different transplantation types. 3-year OS rate: HLA-matched sibling HSCT>unrelated HLA-matched HSCT>haploidentical HSCT>micro HSCT. The OS rate of patients with bone marrow blasts≥10% seems lower than blasts<10%, but there was no statistical difference.The 3-year OS rate of patients with chromosomal karyotype complex abnormality was (47.7±11.5) %, and that of patients without complex abnormality was (80±4.2) % which was statistical difference (P<0.05). Patients with DNMT3A, NRAS, TP53 and GATA2 mutations had shorter OS time compared with patients without mutation of these genes, which shows statistically significant (P<0.05). COX multivariate analysis showed that age, chromosome karyotype, DNMT3A, TET2, GATA2 and NRAS were the independent factors influencing OS of patients after HSCT, with statistically significant difference.@*CONCLUSION@#age of patients, donor selection of HSCT, chromosome karyotype, DNMT3A, NRAS, TP53, GATA2 and TET2 gene mutations are all independent factors affecting the OS of patients after HSCT. Therefore, the assessment of the OS of MDS patients with transplantation requires comprehensive consideration.


Subject(s)
Adolescent , Adult , Aged , Child , Child, Preschool , Hematopoietic Stem Cell Transplantation , Hematopoietic Stem Cells , Humans , Infant , Infant, Newborn , Middle Aged , Myelodysplastic Syndromes , Prognosis , Retrospective Studies , Siblings , Survival Analysis , Young Adult
18.
Journal of Experimental Hematology ; (6): 1292-1297, 2020.
Article in Chinese | WPRIM | ID: wpr-827124

ABSTRACT

OBJECTIVE@#To study therapeutic efficacy and side effects of single decitabine for DNMT3A myelodysplastic syndrome (MDS) patients.@*METHODS@#The clinical characteristics, efficacy and side effects of 59 myelodysplastic syndrome patients received the decitabine therapy in our center from January 2015 to December 2018 were retrospectively analyzed. Based on gene mutations, these patients were divided into 2 groups: DNMT3A MDS patients (n=27) and DNMT3A MDS patients (n=32). All patients in two groups were treated with decitabine for 4 circles. The efficacy and side effects in the two groups were compared.@*RESULTS@#The median age of patients in DNMT3A MDS group was 56.2 (37-81) which was no statistic difference from DNMT3A MDS group. And there was no statistical difference including age, white blood cells, hemoglobin and platelet count between the two groups (P>0.05). The ORR and complete response (CR) rate of DNMT3A group were 70.37% and 40.74%, the ORR and CR rate of DNMT3A group were 40.63% and 21.88% respectively. Significant differences were observed in ORR rate (P=0.035) between two groups. However, significant differences did not found in CR rate (P=0.159) between two groups, The similar adverse reaction was observed in DNMT3A and DNMT3A MDS patients. Among the 59 patients, 21 patients showed TP53+ mutation. DNMT3A/TP53 MDS patients (n=13) had similar ORR and CR compared with the DNMT3A/TP53 MDS patients (n=8) (P>0.05). The overall survival (OS) in DNMT3A MDS group and DNMT3A MDS group were 29.1±13.4 months and 27.8±14.4 months, respectively, no significant differences between two groups were observed (P=0.475).@*CONCLUSION@#Decitabine treatment is an effective and safe for DNMT3A MDS patients, but not shows better survival advantage.


Subject(s)
Azacitidine , Decitabine , Humans , Myelodysplastic Syndromes , Retrospective Studies , Treatment Outcome
19.
Journal of Experimental Hematology ; (6): 1298-1302, 2020.
Article in Chinese | WPRIM | ID: wpr-827123

ABSTRACT

OBJECTIVE@#To study the effect of SMO inhibitor (Jervine) on proliferation, apoptosis and cell cycle of MDS cell line MUTZ-1, and its mechanism.@*METHODS@#The effect of different concentrations Jervine on proliferation of MUTZ-1 cells was detected by CCK-8 method. Apoptosis and cell cycle of MUTZ-1 cells were detected by flow cytometry. Western blot was used to detect the changes of Shh signaling pathway effecting proteins BCL2 and CyclinD1. The expression levels of Smo and Gli1 gene were detected by real-time fluorescent quantitative polymerase chain reaction (RT-qPCR).@*RESULTS@#Jervine inhibited MUTZ-1 cell proliferation in a concentration dependent manner (24 h, r=-0.977), the apoptosis rate of MUTZ-1 cells increased with the enhancement of concentration of Jervine in MUTZ-1 cells (P<0.001), the cell proportion of G phase increased and the cell number of S phase decreased with enhancement of concentration (P<0.001). The result of RT-qPCR and Western blot showed that the expression of Smo, Gli1 mRNA and BCL2, CyclinD1 proteins decreased (P<0.05).@*CONCLUSION@#SMO inhibitor can effectively inhibit the growth of MDS cell line MUTZ-1 improve the cell apoptosis and induce cell cycle arrest. Its action mechanism may be related with dowm-regulating the expression of BCL2 and CyclinD1.


Subject(s)
Apoptosis , Cell Line, Tumor , Cell Proliferation , Hedgehog Proteins , Humans , Myelodysplastic Syndromes , Signal Transduction , Veratrum Alkaloids
20.
Journal of Experimental Hematology ; (6): 2004-2010, 2020.
Article in Chinese | WPRIM | ID: wpr-880006

ABSTRACT

OBJECTIVE@#To investigate the clinical characteristics and prognostic significance of myelodysplastic syndrome (MDS) patients with BCOR/BCORL1 mutation.@*METHODS@#The clinical characteristics of 135 patients diagnosed as de novo MDS in People's Hospital of Xinjiang Uygur Autonomous Region from September 2015 to September 2019 were analyzed retrospectively. Next-generation sequencing was used to detect 34 kinds of myeloid-tumor-related gene in MDS patients. The clinical characteristics of BCOR/BCORL1 mutation and its effect to progression-free survival(PSF) and overall survival (OS) in MDS patients were analyzed.@*RESULTS@#Among MDS patients, BCOR/BCORL1 mutation was found in 34(25.2%) patients, including 16(11.9%) BCOR mutation and 18(13.3%) BCORL1 mutation. Patients with BCOR/BCORL1 mutation were more common in women and showed lower neutrophil count [0.75(0.08-22.20) vs 1.27(0.06-35.71)×10@*CONCLUSION@#BCOR/BCORL1 mutation is more common in MDS patients and often company with other genes co-mutations. BCOR/BCORL1 mutation is not associated with disease progression and AML transformation in MDS patients, but it predicts poor overall survival.


Subject(s)
Female , Humans , Mutation , Myelodysplastic Syndromes/genetics , Patients , Prognosis , Proto-Oncogene Proteins/genetics , Repressor Proteins/genetics , Retrospective Studies
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