ABSTRACT
ElsíndromedeDownpredisponeatrastornosmieloproliferativos. Se estima que del 5 % al 30 % de los neonatos con esta condición desarrollarán mielopoyesis anormal transitoria. El tratamiento no está estandarizado; la exanguinotransfusión y la citarabina podrían ser efectivos. Se describen dos casos de pacientes con síndrome de Down, quienes durante el período neonatal presentaron leucemia mieloide aguda y mielopoyesis anormal transitoria, los tratamientos utilizados y sus desenlaces. Se considera que la sospecha y el diagnóstico temprano de esta entidad son factores determinantes en el pronóstico.
Down syndrome predisposes to haematological disorders. It is estimated that 5-30% of neonates with this condition will develop transient abnormal myelopoiesis. Treatment is not standardized; exchange transfusion and the use of cytarabine could be effective. We present two clinical cases of patients with Down syndrome, who during the neonatal period showed acute myeloid leukemia and transient abnormal myelopoiesis, the treatments used and their outcomes. Suspicion and early diagnosis of this entity are considered determining factors in prognosis.
Subject(s)
Humans , Male , Female , Infant, Newborn , Leukemia, Myeloid, Acute/complications , Leukemia, Myeloid, Acute/diagnosis , Down Syndrome/complications , Down Syndrome/diagnosis , Leukemoid Reaction/diagnosis , Leukemoid Reaction/etiology , Leukemoid Reaction/therapy , Myeloproliferative Disorders/complications , Myeloproliferative Disorders/diagnosisABSTRACT
Leukemoid reaction and myeloproliferative syndrome are close mimickers and frequently pose a diagnostic dilemma, particularly when the leukocyte count is very high. Leukocyte alkaline phosphatase score frequently aids in diagnosis but may or may not be contributory, especially in differentiating chronic neutrophilic leukemia. Herein, we document a case of leukemoid reaction with extensive hyperleukocytosis in a 46-year-old female with poorly differentiated carcinoma. The tumor itself as well as the associated leukocytosis portends a poor prognosis
ABSTRACT
Objective@#To investigate the clinic-pathological features, diagnosis and treatment of 8p11 myeloproliferative syndrome (EMS) .@*Methods@#Five patients diagnosed as EMS from Jan 2014 to May 2018 at Blood Disease Hospital, Chinese Academy of Medical Sciences were enrolled. The clinical manifestations, laboratory characteristics, treatment and outcome of these patients were summarized.@*Results@#The peripheral blood leukocyte count of 5 patients with EMS increased significantly, accompanied with an elevated absolute eosinophils value (the average as 18.89×109/L) . The hypercellularity of myeloid cells was common in bone marrow, always with the elevated proportion of eosinophils (the average as 17.24%) , but less than 5% of blast cells. The chromosome karyotype of the 5 cases differed from each other, but presenting with the same rearrangement of FGFR1 gene by fluorescence in situ hybridization technology. The average interval between onset and diagnosis was 4.8 months with a median survival of only 14 months.@*Conclusion@#EMS was a rare hematologic malignancy with poor prognosis and short survival. It was commonly to be misdiagnosed. Analysis of cytogenetics and molecular biology were helpful for early diagnosis.
ABSTRACT
Objective: To investigate the clinic-pathological features, diagnosis and treatment of 8p11 myeloproliferative syndrome (EMS) . Methods: Five patients diagnosed as EMS from Jan 2014 to May 2018 at Blood Disease Hospital, Chinese Academy of Medical Sciences were enrolled. The clinical manifestations, laboratory characteristics, treatment and outcome of these patients were summarized. Results: The peripheral blood leukocyte count of 5 patients with EMS increased significantly, accompanied with an elevated absolute eosinophils value (the average as 18.89×10(9)/L) . The hypercellularity of myeloid cells was common in bone marrow, always with the elevated proportion of eosinophils (the average as 17.24%) , but less than 5% of blast cells. The chromosome karyotype of the 5 cases differed from each other, but presenting with the same rearrangement of FGFR1 gene by fluorescence in situ hybridization technology. The average interval between onset and diagnosis was 4.8 months with a median survival of only 14 months. Conclusion: EMS was a rare hematologic malignancy with poor prognosis and short survival. It was commonly to be misdiagnosed. Analysis of cytogenetics and molecular biology were helpful for early diagnosis.
Subject(s)
Humans , Chromosomes, Human, Pair 8 , Eosinophilia/genetics , Hematologic Neoplasms/genetics , In Situ Hybridization, Fluorescence , Karyotyping , Lymphatic Diseases/genetics , Myeloproliferative Disorders/genetics , Receptor, Fibroblast Growth Factor, Type 1/genetics , Translocation, GeneticABSTRACT
Objective@#To explore the effects and possible mechanisms of the novel pan-FGFR inhibitor BGJ398 on KG-1 cells in vitro.@*Methods@#Effects of BGJ398 on cells proliferation were detected by CCK-8, the apoptosis was assessed by Annexin V-FITC. Reverse transcriptionquantitative polymerase chain reaction (q-PCR) analysis was used to detect the expression of apoptosis-related genes B cell lymphoma-2 (Bcl-2) and caspase-3. Western blotting analysis was performed to explore the proteins expression levels of Bcl-2, caspase-3 and the expression of p-AKT, p-S6K, p-ERK and FGFR1.@*Results@#BGJ398 effectively inhibited cell proliferation by dose-dependent manners. BGJ398(1.4 µmol/L) induced apoptosis of KG-1 cells by 36.4%, compared with 4.5% in the control group(P<0.001). Treatment with BGJ398 at 1.4 µmol/L led to significant increases in the expression levels of caspase-3, and decreases in the expression of Bcl-2 (P<0.005). In accordance with these results, Western blot analysis further confirmed the increased expression of Bcl-2 protein along with elevated caspase-3 activity. In addition, BGJ398 markedly down-regulated FGFR1OP2-FGFR1 fusion protein, p-AKT and p-S6K expression, but not p-ERK expression.@*Conclusion@#Novel pan-FGFR inhibitor BGJ398 substantially suppressed KG-1 cell growth and induced apoptosis by inhibiting the expression of FGFR1, p-AKT, p-S6K and regulating apoptosis-related proteins.
ABSTRACT
Objective: To explore the effects and possible mechanisms of the novel pan-FGFR inhibitor BGJ398 on KG-1 cells in vitro. Methods: Effects of BGJ398 on cells proliferation were detected by CCK-8, the apoptosis was assessed by Annexin V-FITC. Reverse transcriptionquantitative polymerase chain reaction (q-PCR) analysis was used to detect the expression of apoptosis-related genes B cell lymphoma-2 (Bcl-2) and caspase-3. Western blotting analysis was performed to explore the proteins expression levels of Bcl-2, caspase-3 and the expression of p-AKT, p-S6K, p-ERK and FGFR1. Results: BGJ398 effectively inhibited cell proliferation by dose-dependent manners. BGJ398(1.4 µmol/L) induced apoptosis of KG-1 cells by 36.4%, compared with 4.5% in the control group(P<0.001). Treatment with BGJ398 at 1.4 µmol/L led to significant increases in the expression levels of caspase-3, and decreases in the expression of Bcl-2 (P<0.005). In accordance with these results, Western blot analysis further confirmed the increased expression of Bcl-2 protein along with elevated caspase-3 activity. In addition, BGJ398 markedly down-regulated FGFR1OP2-FGFR1 fusion protein, p-AKT and p-S6K expression, but not p-ERK expression. Conclusion: Novel pan-FGFR inhibitor BGJ398 substantially suppressed KG-1 cell growth and induced apoptosis by inhibiting the expression of FGFR1, p-AKT, p-S6K and regulating apoptosis-related proteins.
Subject(s)
Humans , Apoptosis , Caspase 3 , Cell Line, Tumor , Cell Proliferation , Phenylurea Compounds/pharmacology , Protein Kinase Inhibitors/pharmacology , Pyrimidines/pharmacologyABSTRACT
The 8p11 myeloproliferative syndrome is a rare hematologic malignancy that involves the fibroblast growth factor receptor 1 (FGFR1) gene at chromosome 8p11.The clonal change of the FGFR1 rearrangement is present in BM cells,and in the T-lymphoma cells in the LN.The hematological stem cells transplantation is the only method that can cure this rare hematologic neoplasma.
ABSTRACT
Las enfermedades malignas asociadas a la anemia drepanocítica han sido reportadas previamente en un reducido número de pacientes, con el advenimiento de la terapia con hidroxiurea se ha observado un incremento en el riesgo de cáncer en estos enfermos; en nuestro caso clínico no se recoge el antecedente de ingestión de este medicamento. Paciente masculino de 25 años de edad, que acude con crisis hepática, con aumento de ictericia y bilirrubina a expensas de la directa, valores elevados de la transaminasa, hepatomegalia y caída de las cifras de hemoglobina a 40 g/L, blastos de un diámetro de 25 mc, granulares, algunos con núcleos de aspecto monocitoide, componente monocítico en periferia igual a 15%, conteo de leucocitos 120 x109/l,medulograma 80% de células blásticas, componente monocítico mayor del 20%, concluyéndose como Leucemia Mielomonocítica Aguda (LMA M4) según estudios citoquímicos diagnósticos además de un aumento de la lisozima y muramidasa superior a 13 mg lis/ml de plasma (Na acetatoesterasas ) positivo (NASA). Se realiza la plasmaféresis y la exanguinotransfusión haciendo dos recambios con amplia hidratación sin respuesta satisfactoria; el paciente fallece el tercer día del diagnóstico debido a Insuficiencia Respiratoria Aguda. Por lo inusual que resulta y por no existir casos reportados en la literatura Internacional de Síndrome Mieloproliferativo Agudo asociado a la Drepanocitosis no tratados con hidroxiurea, los autores presentan este caso clínico.
Malignant diseases related to sickle-cell anemia have been previously reported in a reduced number of patients, the risk of suffering from cancer in those patients have increased with the advent of the hydroxyurea treatment. In this case no evidence of being taken this medication was proved. A 25-years old male presenting hepatic crisis, jaundice, hyperbilirubinemia, high levels of transaminase, hepatomegaly and low red blood cell counts (40 g/l), blast cells of 25 µm in diameter, granular cell presenting nucleus of monocytic-like cells (some of them), monocytic component in periphery equal to 15 %, leucocytes counts 120x10(9)/l, medullogram: 80 % of blast cells, monocytic component greater than 20 %, concluded as Acute Myelomonocytic Leukemia (AML M4) diagnostic cyto-chemical studies showed an increase of lysozyme and muramidase higher than 13 mg lis/ml of plasma (a positive Na acetatoesterases). A plasmapheresis and ex-transfusion and two rechanges, deep rehydration. No satisfactory response was observed and the patient died on the third day with a diagnose of acute respiratory insufficiency. Because of this unsual disorder and no other cases described by the medical literature as an Acute Myeloproliferative Syndrome in association to Drepanocytosis non-treated with Hydroxyurea motivated the authors to present this case report.
ABSTRACT
Objective To improve the recognition of the 8p11 myeloproliferative syndrome(EMS).Methods Here a case with EMS was reported and the medical literature on this topic were reviewed. Results The patient was definitely dignosed and was treated with DA regimen. Conclusion EMS is a rare hematologic malignancy with poor prognosis and short life span. The small molecule tyrosine kinase inhibitors may bring hope in the future for patient with EMS.
ABSTRACT
We report the case of a five-month-old black male infant who had recurrent episodes of respiratory infections and also presented anemia and enlargements of the spleen, liver and lymphnodes. Hematological analysis revealed morphological abnormalities with megaloblastic dyserythropoiesis, while fetal hemoglobin assaying showed normal levels. Conventional and molecular cytogenetic analysis revealed monosomy of chromosome 7. Despite all therapeutic efforts during allogenic bone marrow transplantation, the child died due to generalized infection. The clinical and genetic distinctions between monosomy 7 syndrome and myelodysplastic disorders in childhood are discussed.
Subject(s)
Humans , Male , Infant , Monosomy , Myelodysplastic Syndromes , Myeloproliferative Disorders , Cytogenetic Analysis , LeukemiaABSTRACT
Objectives: Finding the markers/symptoms of cytology for each disease and all diseases belonged the myeloproliferative syndrome (MPS). Subjects: 55 patients in the H÷u NghÞ Hospital during 1985-1998. Results: The increased leukocytes and immature cells found in the peripheral blood of patients with MPS. However, the level and rate of these were different: 1st increased level (chronic granulocytic leukemia, 2nd increased level (essential myelofibrosis), 3th increased level(primary multi erythro was always accompanied with erythrocythmia where as the chronic granulocytic leukemia and essential myelofibrosis were accompanied with anemia. The primary thrombocythenia remains the normal erythrocyte. The thrombocythenia is not a obviously marker in the primary thrombocyte but also in the chronic granulocytic leukemia and the primary multierythrocyte. The thrombocyte found in the peripheral blood of patients with myeloproliferative syndrome. The number of marrow cells were reduced in the essential myelofibrocythemia remained at normal level. The significant increased number of marrow cells found in the most of patients with the chronic granulocytic leukemia. The obvious increased rate of germ cell of granulocyte and thrombocyte in the marrow cell picture.
Subject(s)
Myeloproliferative Disorders , Cell Biology , DiagnosisABSTRACT
This study included 55 patients who admitted to Huu Nghi Hospital from 1985 to 1998. It is found that spleen enlargement is common in myeloproliferative conditions, with the incidence is 100% of patients who have chronic granulocytic leukemia and those have idiopathic myelosclerosis. These patients have grade II or more of spleen enlargement. This symptom is less common in patients who have polycythemia vera or essential trombocythemia, and these patients are likely to have grade I of spleen enlargement. Anemia is more likely to be found in patients with chronic granulocytic leukemia, especially in those with idiopathic myelosclerosis, but this symptom is infrequent in patients with essential trombocythemia. Patients with polycythemia vera in typical have excessive blood. Infection and hemorrhage occurred predominantly in patients with chronic granulocytic leukemia and in some cases of essential trombocythemia. Symptoms of high blood pressure, tip finger bruise and limb weakness have been found mainly in patients with polycythemia vera. In some cases with polycythemia vera, both red cell and white cell counts are increased. While patients with chronic granulocytic leukemia, polycythemia vera and idiopathic myelosclerosis expresses obvious clinical symptoms, the symptoms in patients who have essential trombocythemia are unmarked.