A Case of Chronic Myelomonocytic Leukemia: the Onset of which was Manifestedby Hypokalemia and Hypocalcemia / 罕见病研究

Intractable hypokalemia and hypocalcemia are rare complications in leukemia patients. This article reports a patient with chronic myelomonocytic leukemia (CMML)with refractory hypokalemia, hypocalcemia, hypochloridemia, hypomagnesemia-a 48-year-old man complained of fatigue, nausea, and face numbness for over one month. The number of monocytosis in peripheral blood and bone marrow increased remarkably. At the same time, the patient developed hypokalemia, hypochloridemia, hypocalcemia, hypomagnesemia, metabolic alkalosis, massive proteinuria, and increase in plasma aldosterone and renin. After two coursea of treatment using Azacitidine therapy, complete remission of bone marrow was achieved and the electrolyte disturbance was almost corrected, except hypomagnesemia. We summarize the clinical characteristics of the patient so as to raise the clinical awareness of such cases.

Clinical features of the children with malignancy-associated hemophagocytic syndrome in Beijing / 中华实用儿科临床杂志

Objective To investigate the clinical features,treatment and prognosis of the children with malignancy-associated hemophagocytic syndrome (MAHS) in Beijing in recent decade.Methods The clinical data of the patients with MAHS under 18 years old from July 2007 to February 2018 collected by the Society of Beijing hemophagocytic syndrome were analyzed retrospectively.Results There were 46 patients under 18 years old with MAHS in all(male 27,female 19).The patients with MAHS took up 8.9％ of the patients with hemophagocytic lymphohistiocytosis (HLH) (46/519 cases) from the area during that period.The median age of onset had 13.5 years (0.9-18.0 years).Thirty-five patients had lymphoma (76.0％),9 cases had leukemia (19.6％),1 case had myelodysplastic syndrome with refractory anemia with excess blast (RAEB-T),and 1 case had Epstein-Barr virus (EBV) associated lymphoproliferative disease (borderline tumor stage).All the patients had a fever.A half of them suffered from hepatosplenomegaly and 7 patients (15.2％) had neurological symptoms.Tbe common laboratory abnormalities included cytopenias,hemophagocytosis in bone marrow (81.8％,36/44 cases),elevated serum ferritin (87.8％,36/41 cases),and elevated sCD25 (100.0％,15/15 cases),decreased nature killer (NK) activity (61.1％,11/18 cases),and plasma EBV-DNA positive (57.9％).Four patients did not receive treatment,the rest were treated by several chemotherapy protocols including the HLH-94/2004 protocol.Five patients (10.8％) received the allogeneic hematopoietic stem cell transplantation,and 1 case received the splenectomy therapy.The mortality was 58.7％.Four heterozygous mutations of SH2D1A,UNC13D and PRF1 genes were found in 2 patients.Conclusions MAHS in children progresses rapidly,with poor prognosis,and it is often complicated with EBV infection.The children with MAHS may develop genetic defects similar to primary hemophagocytic syndrome.Nowadays,there is no standard treatment for MAHS,so the individualized treatment is to be explored.

Clinical features of the children with malignancy-associated hemophagocytic syndrome in Beijing / 中华实用儿科临床杂志

Objective@#To investigate the clinical features, treatment and prognosis of the children with malignancy-associated hemophagocytic syndrome (MAHS) in Beijing in recent decade.@*Methods@#The clinical data of the patients with MAHS under 18 years old from July 2007 to February 2018 collected by the Society of Beijing hemophagocytic syndrome were analyzed retrospectively.@*Results@#There were 46 patients under 18 years old with MAHS in all(male 27, female 19). The patients with MAHS took up 8.9% of the patients with hemophagocytic lymphohistiocytosis (HLH)(46/519 cases) from the area during that period.The median age of onset had 13.5 years (0.9-18.0 years). Thirty-five patients had lymphoma (76.0%), 9 cases had leukemia (19.6%), 1 case had myelodysplastic syndrome with refractory anemia with excess blast(RAEB-T), and 1 case had Epstein-Barr virus(EBV) associated lymphoproliferative disease (borderline tumor stage). All the patients had a fever.A half of them suffered from hepatosplenomegaly and 7 patients(15.2%) had neurological symptoms.The common laboratory abnormalities included cytopenias, hemophagocytosis in bone marrow (81.8%, 36/44 cases), elevated serum ferritin (87.8%, 36/41 cases), and elevated sCD25 (100.0%, 15/15 cases), decreased nature killer(NK) activity (61.1%, 11/18 cases), and plasma EBV-DNA positive (57.9%). Four patients did not receive treatment, the rest were treated by several chemotherapy protocols including the HLH-94/2004 protocol.Five patients (10.8%) received the allogeneic hematopoietic stem cell transplantation, and 1 case received the splenectomy therapy.The mortality was 58.7%.Four heterozygous mutations of SH2D1A, UNC13D and PRF1 genes were found in 2 patients.@*Conclusions@#MAHS in children progresses rapidly, with poor prognosis, and it is often complicated with EBV infection.The children with MAHS may develop genetic defects similar to primary hemophagocytic syndrome.Nowadays, there is no standard treatment for MAHS, so the individualized treatment is to be explored.

POEMS syndrome coexisting with Castleman disease and negative results of hematological examination: report of one case and review of literature / 白血病·淋巴瘤

Objective To strengthen the recognition of atypical POEMS syndrome in order to improve diagnosis rate of rare cases of POEMS syndrome. Methods The diagnosis and treatment of a rare case of POEMS syndrome coexisting with Castleman disease but without M protein in serum, urine and bone marrow who was admitted to Xuanwu Hospital, Capital Medical University in November 2017 were retrospectively analyzed with review of the literature. Results The elder male was suspected with a diagnosis of POMES syndrome, but absence of monoclonal plasma cell disease that made it difficult to diagnose. Systemic PET-CT found an active metabolic lesion in left iliac bone. Although the lymph node biopsy had been performed for a diagnosis of Castleman disease, a bone biopsy was also done for a definite diagnosis. Pathological result indicated a plasmacytoma which confirmed a diagnosis of POEMS syndrome without M protein in serum, urine and bone marrow. Literature review suggested that the application of immunofixation electrophoresis was helpful to improve the diagnostic rate of POEMS syndrome. For patients with a suspected diagnosis of POEMS syndrome, bone biopsy, flow cytometry and systemic PET-CT may assist in the search for monoclonal plasma cell. Periphery neuropathy, bone lesion and treatment response were helpful in distinguishing Castleman disease coexisting with POEMS syndrome from Castleman disease without POEMS syndrome. Conclusions When a mandatory major criterion of POEMS syndrome is not sufficient, it should be actively sought, especially for patient with a suspected diagnosis of POEMS syndrome. For patients with multiple lesions, multi-site biopsies are necessary to assist in diagnosis.

Application of molecular biology in prognosis evaluation of myelodysplastic syndromes / 中国医师杂志

Myelodysplastic syndromes are a group of heterogeneous myeloid tumors and the prognosis is affected by a variety of factors.The pathophysiology of myelodysplastic syndromes (MDS) is unclear.Recent studies have shown that MDS patients have extensive genetic abnormalities.With the development of new genome sequencing technology,abnormal genes can be found in about 80％ of MDS patients.These molecular biological abnormalities have the prospect of guiding targeted therapy and disease surveillance,and can give a hope for the individualized management of heterogeneous hematological malignancies.Here,the prognostic factors of MDS,especially for MDS molecular biology in recent years have been reviewed.

Clinical analysis of low-dose decitabine combined with CAG regimen in treatment of elderly patients with acute myeloid leukemia and myelodysplastic syndromes patients with intermediate- or high-risk / 白血病·淋巴瘤

Objective To investigate the clinical value of low-dose decitabine (DAC) in elderly patients with acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) patients with intermediate-or high-risk. Methods Low-dose DAC (10 mg/d, 7 days) combined with CAG regimen were given to 19 elderly patients with AML and intermediate- or high-risk MDS patients. The efficacy and adverse reactions were evaluated after a course of treatment, and the patients were followed up for survival. Results After a course of treatment, 8 patients achieved complete remission (CR), 7 patients achieved partial remission (PR). After 4 courses of treatment, 68.4 % (13/19) of patients achieved CR, the overall response rate reached 78.9% (15/19). Fewer side effects were seen associated with chemotherapy. After 42 months of follow-up, there were 12 survival cases, the median survival time was 13.5 months (3-42 months). Conclusion Low-dose DAC combined with CAG regimen have a better efficacy, higher safety, and lower economic burden for elderly AML patients and intermediate- or high-risk MDS patients, which is beneficial to greatly improve patients' compliance.

Large granular lymphocyte leukemia: three cases report and review of the literature / 白血病·淋巴瘤

Objective To investigate the clinical characteristics and methods of diagnosis and treatment of granular lymphocytic leukemia (LGLL).Methods Clinical data of 3 patients with LGLL were retrospectively analyzed and relevant literature was reviewed.Results 3 patients were all onset with lymphocytosis,whose conditions progressed slowly.The diagnosis of 2 patients was T-LGLL with immunological characteristics of CD3+ CD4 CD8+ CD56-CD57+.The other patient' s diagnosis was NK-LGLL,whose immunological characteristic was CD3-CD4-CD8-CD56+ CD57-.Two of them didn' t need any treatment.One of them was treated with cyclosporine because of agranulocytosis and recurrent infection.Conclusions LGLL is a group of heterogeneous diseases,which clinical characteristic and prognosis are different.Flow cytometric immunopheotype,TCR Vβ analysis and TCR gene rearrangement are helpful to diagnosis.

Relationship between JAK2 V617F gene mutation and vascular embolism diseases / 白血病·淋巴瘤

Objective To investigate the relationship between JAK2 V617F mutation and vascular embolism diseases,in order to provide important basis for clinical diagnosis and treatment and prevention of embolism.Methods Patients who were hemoglobin ＞ 160 g/L,platelets ＞ 300×109/L treated in department of neurology,heart and vascular surgery in Xuanwu Hospital of Capital Medical University were collected.Vessel embolism and JAK2 V617F mutation situation and correlation were retrospectively analyzed.Results Among the total 56 cases,JAK2 V617F gene mutation positive rate was 37.50 ％ (21/56),the incidence of embolism was 40.07 ％ (23/56),there was correlation between JAK2 V617F mutation and embolism (P =0.014).Conclusion JAK2 V617F mutation is helpful to early diagnosis and treatment of myeloproliferative neoplasm,reduce thrombosis complication,improve the quality of life.

Telosome: biological function and its relationship with tumor / 国际肿瘤学杂志

Recent studies show that the structure integrality and function are more important than the length of telomere in maintaining tumor cells reproduction and proliferation.Mammalian telomeres bound by a specialized six-protein(TRF1,TRF2,TIN2,RAP1,POT1 and TPP1 )complex known as telosome or shelterin,has fundamental role in the regulation of telomere activity,maintaining the length and protecting telomere chromosome terminal.Telosome is involved in the complex regulation of cell mitosis process.The study of the role of telomere binding protein complex in tumorigenesis is very important for searching new methods of tumor diagnosis and treatment.

Diagnosis and treatment of four patients with myeloproliferative neoplasms and a literature review / 白血病·淋巴瘤

Objective To analyze the clinical practice of the diagnosis and treatment of four patients with myeloproliferative diseases (MPD) and review the relative literatures. Methods The progress of diagnosing and treating one polycythemia vera patient, two essential thrombocythemia patients and one primary myelofibrosis patient were introduced. Results Interferon alone, interferon combined with hydroxyurea and HLA matched sible allogeneic hematopoietic stem cell transplantation were carried out separately, the satisfying outcomes were shown. Conclusion Detection of genetic mutation of JAK2 V617F has markedly facilitated the approach to clinical diagnosis of MPD. The therapeutic aim for patients with polycythemia vera and essential thrombocythemia is preventing the occurrence thromboembolic events, while for some high-risk primary myelofibrosis patient, allogeneic stem cell transplantation should be considered.