Objective To investigate the significance of plasma neopterin (Npt) and adenosine deaminase (ADA) in patients with secondary hemophagocytic lymphohistiocytosis (sHLH).Methods Serum specimens from 39 patients with newly diagnosed sHLH,10 sHLH patients who had achieved clinical remission after treatment,and 15 healthy controls were collected.Serum Npt level was detected by enzyme linked immunosorbent assay (ELISA) and ADA activity was tested by kinetic method.Results Npt and ADA values in sHLH group were significantly higher than those in control group [Npt:(164.6 ± 90.0) nmol/L vs (7.9 ± 3.6) nmol/L; ADA:(117.2 ± 70.2) U/L vs (11.6 ± 4.0) U/L; all P ＜ 0.001].Among the 10 sHLH patients who obtained effective clinical treatment,posttreatment levels of Npt and ADA were significantly lower than pretreatment data [Npt:(17.5 ± 10.9) nmol/L vs (170.6 ± 117.9) nmol/L ; ADA:(22.5 ± 15.5) U/L vs (98.8 ± 52.6) U/L; all P ＜ 0.05].The Npt level in sHLH patients was positively correlated with the levels of serum soluble interleukin-2 receptor (sCD25) and serum ferritin (r =0.526 and r =0.507) ; while ADA activity had linear relationship with the level of lactate dehydrogenase (r =0.646).Receiver operating characteristic (ROC) curve analysis showed that 148.1 nmol/L was the critical value of serum Npt for the diagnosis of lymphoma associated hemophagocytic syndrome (LAHS) and the sensitivity and specificity were 70.0％ and 78.9％,respectively.As to ADA,103.1 U/L was the critical value for the diagnosis of LAHS and the sensitivity and specificity were 75.0％ and 84.2％,respectively.The sensitivity and specificity of combined parameters of Npt and ADA were 90.0％ and 94.7％,respectively.Conclusions It is concluded that Npt and ADA have great importance in the diagnosis and evaluation of therapeutic effect in patients with sHLH.Npt and ADA provide potential evidence to diagnose patients who are suspected with LAHS.

BACKGROUNDSpliceosome mutations have been recently identified and associated with hematological malignancies. SRSF2, one of components of the splicing machinery, has a high mutation frequency during chronic myelomonocytic leukemia, according to previous reports. However, the relevance of this finding in Chinese populations remains unknown.

METHODSWe recruited 50 Chinese patients with chronic myelomonocytic leukemia to analyze the state of SRSF2 and to assess the corresponding clinical features by polymerase chain reaction followed by direct sequencing.

RESULTSTen of 50 patients (20%) harbored SRSF2 mutations, including five P95R, two 95H, and three P95L point mutations. The patient group was older than the wild type group (P < 0.01). No significant statistical differences were observed with regard to the other clinical characteristics (sex, peripheral blood count, serum lactate dehydrogenase, karyotype, World Health Organization classification, etc.) between these two groups. Two of the patients showed an early evolution to acute myeloid leukemia.

CONCLUSIONSSRSF2 mutations are frequent in chronic myelomonocytic leukemia patients, but show a relatively lower incidence in Chinese patients. Moreover, the mutation can be related to old age and an unfavorable prognosis. Our results provide valuable insights for the development of a diagnostic marker, or for the identification of a therapeutic target for chronic myelomonocytic leukemia.

Adult ; Aged ; Aged, 80 and over ; DNA Mutational Analysis ; Female ; Genetic Predisposition to Disease ; genetics ; Humans ; Leukemia, Myelomonocytic, Chronic ; genetics ; Male ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; Ribonucleoproteins ; genetics ; Serine-Arginine Splicing Factors