RESUMO
BACKGROUND: Philadelphia chromosome-positive acute myeloid leukemia (Ph+ AML) is a rare leukemia subtype first classified by the World Health Organization in 2016. The incidence of Ph+ AML is approximately 0.5 - 3%, and its prognosis is poor. Ph+ AML with additional chromosomal abnormalities in children has rarely been reported, and its treatment and prognosis remain uncertain. METHODS: We retrospectively analyzed 649 patients with AML from 2006 - 2021. Six (0.9%) patients with Ph+ AML were identified and treated with conventional chemotherapy. The clinical features and prognoses were retrospectively analyzed. RESULTS: Six cases of AML with a Ph chromosome were reported. One of the six individuals exhibited a biphenotypic immunophenotype, one exhibited a simple myeloid immunophenotype, and the other four exhibited myeloid and lymphoid expression. Karyotypic analysis (R banding) was performed in six cases, four of which were classical Ph chromosomal abnormalities, two of which had additional abnormalities outside the Ph chromosome. Fluorescence in situ hybridization (FISH) analysis using the BCR/ABL fusion gene distinguished that the BCR major breakpoint break in three cases was type P210 and the BCR minor breakpoint break in three cases was type P190. The complete remission rate of the six patients in this study using conventional chemotherapy was 60%, with a median survival time of 7.5 months. CONCLUSIONS: In summary, Ph+ AML is a heterogeneous disease often associated with additional chromosomal abnormalities. Ph+ AML is seen with a lymphoid immunophenotype and alterations in associated genes such as the IGH gene. Adults were predominantly P210 and two cases in children were both P190. Conventional treatments are less effective, and there are no standard treatment regimens.
Assuntos
Leucemia Mielogênica Crônica BCR-ABL Positiva , Leucemia Mieloide Aguda , Adulto , Criança , Humanos , Cromossomo Filadélfia , Prognóstico , Hibridização in Situ Fluorescente , Estudos Retrospectivos , Leucemia Mielogênica Crônica BCR-ABL Positiva/genética , Leucemia Mieloide Aguda/diagnóstico , Leucemia Mieloide Aguda/genética , Aberrações Cromossômicas , Proteínas de Fusão bcr-abl/genéticaRESUMO
BACKGROUND: Some studies have discussed adverse prognosis factors of AML with t(8;21) to be closely related to genetic changes. METHOD: We reviewed 58 cases of AML in children and adults with t(8;21)(q22;q22) translocation. RESULTS: Five variant translocation cases were observed: t(8;17;21)(q22;q12;q22) (case 1), t(1;8;21)(q12;q22;q22) (case 2), and t(8;12;21)(q22;p13;q22) (case 3). The translocations were first observed in three children. Case 2 was cured with chemotherapy, and the cut-off date of observation was 120 months. Case 3 relapsed after 1 year (overall survival [OS], 14 months). Patients with AML with t(8;21) variant translocation have different prognoses and require further study. Forty-two of the 58 cases were included in the survival analysis. Cox regression analysis showed that progression-free survival (PFS) was correlated with age group, white blood cell (WBC) count, bone marrow blast ratio, and loss of Y chromosome (-Y). Overall survival (OS) was correlated with age group, WBC count, and -Y. Childhood leukemia with t(8;21) has a better prognosis than adult leukemia. Survival curves were drawn according to age and cytogenetic abnormalities. CONCLUSIONS: Progression-free survival was correlated with age, white blood cell (WBC) count, bone marrow blast ratio, and loss of Y chromosome (-Y). OS was correlated with age group, WBC count, and -Y chromosome. Child-hood leukemia with t(8;21) has a better prognosis than adult leukemia.
Assuntos
Leucemia Mieloide Aguda , Adulto , Criança , Humanos , Medula Óssea , Aberrações Cromossômicas , Cromossomos Humanos Par 8 , Leucemia Mieloide Aguda/genética , Prognóstico , Translocação GenéticaRESUMO
Objective: Sepsis remains a major cause of neonatal death. To better characterize the inflammatory response during neonatal sepsis, we compared the differences in serum cytokines and chemokines between full-term neonates with sepsis and without infection. Methods: We enrolled 40 full-term neonates with sepsis and 26 full-term neonates without infection as controls between October 2016 and June 2018. Forty cytokines /chemokines in serum were analyzed using the Luminex Bead Immunoassay System. Results: Our results showed that serum IL-6, IL-8, TNF-α, IL-1ß, MIF, CXCL13, CXCL1, CXCL2, CXCL5, CXCL6, CXCL16, CCL27, CCL2, CCL8, CCL3, CCL20, CCL23, and CX3CL1 levels were significantly increased in neonates with sepsis compared to those in the control group (all p<0.05). The levels of serum CCL20, and IL-17 were higher in late-onset sepsis (LOS) than those in early-onset sepsis (EOS) (all p<0.05). Conversely, serum CXCL16 was lower in LOS than that in EOS (p<0.05). Conclusion: Our findings revealed that excessive pro-inflammatory cytokines might be involved in neonatal sepsis. In addition, chemokines significantly increased the recruitment of immune cells after infection to participate in the anti-infection defense of neonates, but this could lead to damage.