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Objective:To investigate the clinical characteristics, diagnosis and treatment methods of children with gene mutation-negative essential thrombocytosis (ET).Methods:The clinical data of a child with gene mutation-negative ET in the Blood Diseases Hospital of Chinese Academy of Medical Sciences were collected, and the related literature was reviewed.Results:The epistaxis was the main clinical symptom of this child. He was diagnosed as ET (gene mutation-negative) by bone marrow aspiration and gene detection. After hydroxyurea treatment, the platelet count increased and the clinical symptoms were improved.Conclusions:The incidence rate of ET in children is low, and the frequency of gene mutation-negative ET in children reported in the literature is different. The large number of samples and long-term follow-up studies are needed.
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Objective:To investigate the clinical features and prognosis of children with positive flow cytometry of cerebrospinal fluid(CNSI + )in maintained acute lymphoblastic leukemia(ALL). Methods:Clinical data including clinical characteristics, diagnosis, treatment and prognosis of 12 patients with ALL CNSI diagnosis in maintenance period were analyzed to explore the prognostic factors.Results:The 12 children with CNSI + in maintenance were mainly male, and all of them were B-ALL.High leukemia cell count at first diagnosis( χ2=6.374, P=0.012), insensitivity to glucocorticoid pretherapy( χ2=5.048, P=0.025), increased rate of abnormal CSF cells(≥60%, χ2=7.024, P=0.008), course of CNSI + ≤14 months( χ2=4.873, P=0.027)and complex karyotype( χ2=9.356, P=0.002)are the adverse prognostic factors.Karyotype is an independent factor( P=0.017). Conclusion:The prognosis of children with CNSI + is unfavourable.Intrathecal injection and chemotherapy are the important treatment for children with CNSI + in maintenance period.Hematopoietic stem cell transplantation is an important choice for children with relapse.