Clinical Features of Chinese Refractory Cytopenia of Childhood: Lower Overall Survival and Higher Possibillity of Clonal Evolution Than Nsaa Patients

To analyze the clinical features and survival time in patients with refractory cytopenia of childhood (RCC), and to develop a new diagnostic scoring system for RCC.

The clinical information, laboratory findings at primary diagnosis and survival time in 97 non-severe aplastic anemia (NSAA) children diagnosed in August, 2000 to June, 2006 were analyzed retrospectively. According to the criteria for RCC proposed in the 2008 edition of the World Health Organization classification of hematopoietic and lymphoid tissues, diagnosis of these NSAA patients was reassessed.

37/97 cases (38. 1%) were reassessed as RCC, 60/97 cases (61. 9%) were still diagnosed as NSAA. There was no significant differences in distribution of age, gender and chromosomal abnormalities, absolute neutrophil count, PLT, MCV, absolute reticulocyte count, the number of cytopenias and duration from onset to starting treatmeat between RCC and NSAA. All patients received the treatment of CsA and androgen. There was no significant differences in distribution of treatment response. The overall survival (OS) of RCC patients was significantly lower than NSAA patients (P=0. 041) in long-term follow-up. The former had 91. 5% of 6-year prospective survival (PS) and the latter had 96. 5% of 6-year PS. At a median follow-up of 93 months (range 6–138), 2 patients reassessed as RCC progressed into AML-M5 and PNH respectively, while no NSAA patient progressed into clonal diseases. There was significant differences in the distribution of HGB<11g/dl at onset and lymphocyte count<3×10⁹/L, dysplastic megakarycytes≥10% (CD41 monoclonal antibogy immunohistochemical staining) and periodic acid schiff (PAS) staining (+) in bone marrow aspirate between RCC and NSAA (P=0. 034, 0. 025, 0. 032, 0. 029). Compared with NSAA, there was significant differences in the distribution of bone marrow cellularity down to 10% of the normal age matched value, dysplastic erythroblastic island, number of erythroblastic mitoses and micromegakaryocytes in bone marrow biopsy of RCC(P< 0. 0001, 0. 0001, 0. 0001, 0. 0001). Using Logistic regression, a new diagnostic scoring model including increased dysplastic erythroblastic island, having micromegakaryocytes in bone marrow biopsy, and lymphocyte count<3×10⁹/L in peripheral blood was developed. By ROC curve analysis, score≥2 points was identified as a cut-off value with sensitivity of 70. 3% and specificity of 95%.

RCC patients had similar clinical features with NSAA patients but had lower OS and higher possibillity of clonal evolution. This new diagnostic scoring model had significance to differentiate diagnose RCC and NSAA.

No relevant conflicts of interest to declare.