Rhabdomyosarcoma of breast resembles acute leukemia：a case report and review of the literature / 肿瘤研究与临床

Objective To investigate the clinical pathological characteristics, diagnosis and treatment of breast rhabdomyosarcoma, and to enhance the awareness of malignancy infiltration to bone marrow (BM). Methods The data of one case of Rhabdomyosarcoma of breast were analyzed retrospectively. BM aspirate and biopsy, morphology, immunology, cytogenetics, molecular biology (MICM) in different parts of BM, peripheral blood smear, fine puncture of breast mass, final biopsy of breast mass by Mammotome System and whole body PET-CT were performed. The immunochemistry stain of specimen of breast mass was used. Results The peripheral blood smear of this patient showed immature erythrocytes, leucocytes and classification of unknown cells which were consistent with BM morphology. The results of BM aspirate and biopsy depicted a hypercellular specimen with disseminated unknown cells infiltration. Unknown cells were positive for CD56 and negative for any hematopoietic markers by flow cytometry. The whole body PET-CT showed that uptake of 18F-FDG of bilateral breast and whole BM was increased, whereas the mass of breast was not presented by CT. PET-CT suggested a probable malignant hematologic disease. The enough specimen of breast mass got from Mammotome System showed embryonal rhabdomyosarcoma, and the tumor cells were positive for MyoD1, Vimentin and Desmin. Conclusions It is a challenge for early diagnosis of solid sarcoma with unknown origin which diffusely infiltrating into BM. Negative expression of hematopoietic markers by flow cytometry plays a role on differential diagnosis in this setting, whereas PET-CT only provides a valuable reference. Enough specimen and immunohistochemical staining could provide solid evidences of diagnosis.

Clinical study on Rituximab in the treatment of idiopathic thrombotic thrombocytopenic purpura / 中华血液学杂志

<p><b>OBJECTIVE</b>To study the efficacy and safety of rituximab (RTX) in the treatment of idiopathic thrombotic thrombocytopenic purpura (ITTP).</p><p><b>METHODS</b>Among 17 ITTP patients, nine cases of the RTX group were administrated with RTX plus plasma exchange (PEX) and steroids. Eight cases of the control group received PEX plus steroids±other immune inhibitors. Patients received RTX 375 mg/m², 1 per week for 4 weeks. The laboratory parameters, including hemogram, LDH, ADAMTS13 activities and its inhibitors, and the ratio of B lymphocytes in peripheral blood were monitored. The number of PEX, total plasma volumes, remission time, relapse ratio and adverse effects in both groups were compared.</p><p><b>RESULTS</b>The median number of PEX/median total plasma volumes in the RTX and control group were 5(2-8)/9.6(4.0-15.4) L and 6(4-9)/11.2(7.5-14.6) L, respectively. Patients in the RTX and control group achieved hematologic remission at the median time of 15(5-20) days and 22(7-36) days, respectively. And the median time of immunological remission in the two groups was 2(2-8) and 2(2-4) weeks, respectively. ADAMTS13 activities increased significantly after 2 weeks in both two groups. There was no relapse in the RTX group, while 4 patients relapsed in the control group. The percentage of B lymphocytes in peripheral blood obviously deduced one week after first dose of RTX infusion compared with the level before treatment [(2.19±5.11)% vs (18.39±7.15)%, P<0.001], and began to gradually increase 9 months later. Severe adverse events were not observed in RTX group during the therapeutic procedure and follow-up, but one patient, who had sustained immunologic remission, died of severe pneumonia 7 months later.</p><p><b>CONCLUSION</b>In the treatment of ITTP, RTX in conjunction with PEX and steroids appeared to be a safe and effective therapy, with fast and sustained remission in hematology and even in immunology, with lower relapse rate and less adverse effects. But patients needed to be paid attention to prevent and treat infectious events in time.</p>

Abnormal expression of IL- 23/IL- 17 axis in peripheral blood of 45 patients with primary immune thrombocytopenia / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the expression of IL- 23/IL- 17 axis in peripheral blood of patients with primary immune thrombocytopenia （ITP） and its clinical significance.</p><p><b>METHODS</b>The real-time quantitative reverse transcription-polymerase chain reaction（RT-PCR）was used to determine the expression of IL-23p19, p40, p35, IL-23R, IL-12Rβ1, IL-12Rβ2, IL-17A, IL-17F mRNA in the peripheral blood of 45 ITP patients and 30 healthy controls. The correlations between the expression of IL-23 and IL- 17, platelet counts, serum cytokine concentrations of ITP patients were analyzed. Furthermore, nine newly diagnosed ITP patients were followed up during treatment.</p><p><b>RESULTS</b>The gene expressions of IL-23p19, p40, IL-23R, IL-12Rβ1, IL-17A, IL-17F in ITP patients were significantly higher than those in healthy controls, the relative expression levels of ITP were 5.58, 2.13, 4.20, 2.45, 4.29, 2.50 times as much as that of healthy controls. And elevated serum IL-23［（198.70±94.56）ng/L vs（50.72±22.97）ng/L, t= 10.06, P<0.001］, IL-17［（85.25±21.97）ng/L vs（11.39±4.27）ng/L, t=21.94，P<0.001］levels were also observed in these ITP patients. In addition, the serum IL-23 level in ITP patients was positively correlated with IL-17（r=0.496, P<0.01）, but negatively correlated with the platelet counts（r=-0.408, P<0.01）, and IL-17 level was negatively correlated with platelet counts（r=-0.464, P<0.01）.</p><p><b>CONCLUSION</b>The IL-23/IL- 17 expression in ITP patients was significantly elevated, indicating IL-23/IL-17 play an important role in the pathogenesis of ITP.</p>

The diagnostic value of protein induced by vitamin K absence or antagonist-ii in non-infant patients with acquired deficiency of vitamin K-dependent coagulation factors / 中华内科杂志

Objective To explore the diagnostic value of protein induced by vitamin K absence or antagonist-Ⅱ (PIVKA-Ⅱ) in non-infant with acquired deficiency of vitamin K-dependent coagulation factors (ADVKCF).Methods PIVKA-Ⅱ levels were measured by ELISA in 50 patients with ADVKCF on day 0,3,7 after vitamin K treatment.Prothrombin time(PT),APTT,FⅡ ∶ C,FⅦ∶ C,FⅨ∶ C,and FⅩ∶ C were analyzed simultaneously.Twenty healthy subjects were enrolled as controls.Results The average level of PIVKA-Ⅱ in ADVKCF group was (3.83 ± 1.40) μg/L,while (1.30 ± 0.54) μg/L in the control group (P ＜ 0.05).The PIVKA-Ⅱ levels on day 0 and 3 did not show significant difference [(3.83 ± 1.40) μg/Lvs (3.79 ± 0.66) μg/L,P ＞ 0.05],but decreasing significantly on day 7 compared to the control group (P ＜ 0.05).The PIVKA-Ⅱ level was (3.78 ± 1.30) μg/L in patients receiving plasma transfusion,while (3.91 ± 1.49)μg/L in no-plasma-transfusion group (P ＞ 0.05).Coagulation factors Ⅱ,Ⅶ,Ⅸ and Ⅹ activity which decreased significantly before treatment returned to normal range after one week use of vitamin K,leading to complete correction of prolonged APTT and PT (＞ 100 seconds).Conclusions The PIVKAⅡ level in ADVKCF patients is significantly higher than that of healthy subjects within one week treatment of vitamin K,which is not influenced by plasma transfusion.This study suggests that PIVKA-Ⅱ is a more sensitive parameter than APTT,PT and the activity of coagulation factor,which could be a valuable factor in the early diagnosis of ADVKCF.

Analysis of the cinical features and misdiagnosis in 62 patients with acquired deficiency of vitamin Kdependent coagulation factors / 中国综合临床

Objective To explore the clinical features and causes of misdiagnosis of the patients with acquired deficiency of vitamin K-dependent coagulation factors (ADVKDCF). Methods Retrospective analysis was performed with the data from 62 patients with ADVKDCF for etiological factors, clinical manifestations,laboratory examinations, diagnosis and treatments. Results Among the 62 patients, 51 patients were with unknown causes( subgroup A) and 11 were with clear histories of anticoagulant rodenticide poisoning( subgroup B). The presentations of hemorrhage of the patients varied with hematuria as the most common first symptom,followed by skin, mucosa, muscle, internal organs bleeding (28/62). The most common hemorrhage symptom is hematuria. 35 of the 62 patients had hemoglobin(Hb) levels less than 100 g/L due to blood loss( the lowest level was 32 g/L). Thirty-eight patients were misdiagnosed at the first visit and the median time from hemorrhage manifestation to definite diagnosis was 8 days (range,2 to 192 days). ADVKDCF was mostly misdiagnosed as the urinary system diseases (23/38), followed by hemophilia (8/38). Laboratory examinations showed normal platelet count , throm bin time (TT) and normal fibrinogen(Fg) concentration, but prolonged plasma prothrombin time (PT), activated partial prothrombin time (APTT) and international normalized ration (INR). All of patients received high dose vitamin K ( intravenous vitamin K1 with a initial dose of 20 to 240 mg/d and then oral vitamin K4 maintenance) . The bleeding symptoms disappeared 1 day after treatment and the Hb levels increased dramatically. There were significant differences in PT, APTT and INR of the patients before and after treatment( P ＜0. 01 ). Followed by a median follow - up of 8 months , no patient had severe adverse effects or recurrence. Conclusion The hemorrhage presentations of the patients with ADVKDCF are various. The most common hemorrhage symptom is hematuria. The misdiagnosis rate of ADVKDCF is high with urinary systems disorders as the most common misdiagnosis. Sequential treatment with vitamin K is an effective and safe method to prevent recurrence. Early detection of coagulation function is helpful to reduce misdiagnosis possibility.