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A 43-year-old female patient was admitted with recurrent thrombosis for more than 2 years and thrombocytopenia for more than 1 year. Both arterial and venous thromboses developed especially at rare sites even during anticoagulation therapy such as cerebral venous sinus thrombosis. Antinuclear antibody, anti-ENA antibody and antiphospholipid antibody were all negative. Platelet count elevated to normal after high dose glucocorticoid and intravenous immunoglobulin (IVIG). Immune thrombocytopenia was suspected. When 4 grade thrombocytopenia recurred, intravenous heparin, rituximab 600 mg, IVIG and eltrombopag were administrated. After 3 weeks, thrombocytopenia did not improve, and new thrombosis developed instead. Screening of thrombophilia related genes revealed PROS1 gene heterozygous mutation and MTHFR TT genotype. Low amount of serum IgG κ monoclonal protein was detected. Heparin-induced thrombocytopenia was differentiated and excluded. Finally, serum negative antiphospholipid syndrome was considered the most likely diagnosis. Dexamethasone 20 mg/day × 4 days combined with sirolimus 2 mg/day was prescribed. The patient was discharged with low molecular weight heparin. At one month, her headache was greatly relieved. The platelet count raised to 20-30×10 9/L, and no new thrombosis or bleeding was reported.
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A young male diagnosed with severe hemophilia A since childhood, was presented with recurrent joint and urinary bleeding. Annualized bleed rates dropped below five with low dose prophylactic medication.Bleeding in the right knee joint recently aggravated. Due to coexisting HIV infection and advanced hemophilic arthritis, the patient was managed by a multi-disciplinary team(MDT).Total knee arthroplasty was performed by an experienced surgeon using modern prosthesis design and intraoperative navigation technologies.Physical and rehabilitation therapy was provided during the postoperative period, and joint function improved. The MDT managed the young patient with HIV infection and advanced hemophilic arthritis. The patient was diagnosed with osteoporosis thought to have been caused by hemophilia, HIV infection and antiviral drugs; and he received treatment. The treatment of this patient reflects the importance of multidisciplinary cooperation in the management of difficult and rare diseases.
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Objective To evaluate the safety and efficacy of lenalidomide plus rituximab in treatment of the patients with relapsed/refractory B-cell non-Hodgkin lymphoma (B-NHL). Methods The clinical data of the patients with relapsed/refractory B-NHL after the varieties of treatment methods in Peking Union Medical College Hospital between January 2015 and December 2017 were retrospectively analyzed. All the patients were treated with R2 regimen: oral lenalidomide (25 mg/d for day 1-day 21) and rituximab (375 mg/m2 of intravenous infusion on day 1, 28-day of each cycle); the efficacy was evaluated after three cycles. After this induction phase, the patients achieving complete response (CR), partial response (PR), or stable disease (SD) were given R2 regimen until the end of 8 cycles. The major end point was overall response rate (ORR) defined as CR + PR. Secondary end point included 1-year progression free survival (PFS), 1-year overall survival (OS) and grade 3-4 adverse events. T cell and B cell subsets of 7 patients at baseline were measured, and T cell and B cell subsets of 13 patients with good efficacy were dynamically observed. Results A total of 49 patients who received 1-4 chemotherapy regimens were included. The ORR after the R2 treatment for 3 courses was 65% (32/49). Thirty-six patients (9 cases of CR, 22 cases of PR, 5 cases of SD) were enrolled in R2 maintenance treatment. The median follow-up time was 13 months, 1-year PFS rate was 61% and 1-year OS rate was 84% . The most common adverse event was bone marrow suppression, including grade 3-4 neutropenia (27% ), grade 3-4 thrombocytopenia (6% ) and grade 4 anemia (4% ), most of which could be controlled by prolonging interval cycles or reduced lenalidomide dosage. The decreased number of CD19+B cell after treatment could be seen in 13 patients who obtained good efficacy under the dynamic observation. Conclusion Lenalidomide plus rituximab is well tolerated and highly active in the treatment of relapsed/refractory B-NHL.
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Objective To evaluate the safety and efficacy of Hyper-CVAD intensive chemotherapy regimen in patients with newly diagnosed aggressive T-cell lymphoma. Methods The efficacy, side effects and survival status were retrospectively analyzed in 34 patients with newly diagnosed aggressive T-cell lymphoma who received Hyper-CVAD regimen as induction therapy in Peking Union Medical College Hospital from September 2009 to December 2010. Results Of 34 patients, 28 cases (82.4 ％) showed treatment response, including 10 cases (29.4 ％) of complete response (CR). Eleven patients underwent stem cell transplantation, including 1 case of human leukocyte antigen-identical siblings allogeneic stem cell transplantation. The median follow-up was 16 months (1-82 months), and the overall survival (OS) rate of 1 or 3-year was 70.2 ％ and 41.1 ％ respectively, and progression-free survival (PFS) rate of 1 or 3-year was 49.3 ％ and 31.6 ％ respectively. The major adverse reaction was myelosuppresion, including 18 cases (52.9％) of myelosuppresion with grade Ⅳ. Three patients died of serious infection. Cox regression multifactor analysis showed CR was the only influencing factor for PFS (HR=6.118, 95％CI 1.327-28.206, P=0.020). Marrow involvement (HR= 0.270, 95 ％CI 0.101-0.722, P= 0.009) and CR (HR= 6.669, 95 ％CI 1.754-25.354, P= 0.005) were independent influencing factors for OS. Conclusions Hyper-CVAD regimen has a high response rate for aggressive T-cell lymphoma, but the lasting effectiveness and the short-term efficacy show unfavorable performances. Meanwhile, myelosuppression is serious and infection incidence is high. Autologous hematopoietic stem-cell transplantation after remission may improve the outcome.
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Objective@#To Evaluate the efficacy and safety of posaconazole as primary prevention of invasive fungal disease (IFD) in patients with severe aplastic anemia (SAA) treated with anti-thymus/lymphocyte immunoglobulin (ATG/ALG) combined with cyclosporine intensive immunosuppressive therapy (IST).@*Methods@#A retrospective analysis of clinical data of 58 SAA patients who received IST of anti-thymocyte immunoglobulin combining cyclosporine and antifungal prophylaxis during April 2013 to May 2017 in Peking Union Medical College Hospital was performed. The patients were divided into posaconazole prophylaxis group and the control group (itraconazole or fluconazole). The disease characteristics, IFD prevention effect and adverse drug reaction, curative effect and prognosis of the two groups were compared.@*Results@#Posaconazole was used to prevent fungal infection in 20 patients. The other 38 patients were used as the control group. Retrospective analysis showed comparable characteristics (gender, age, disease severity, etiology, interval between the onset of disease to treatment, ATG/ALG type) of both groups. The incidence of IFD were 0 and 15.8% in posaconazole prophylaxis group and the control group, respectively (P=0.084). In the control group, there were 6 cases diagnosed as IFD. Of them, 2 were confirmed, 2 suspected and 2 not identified. Five of the 6 cases were pulmonary infection, 1 bloodstream infections. Of the 6 IFD cases, 5 were very severe aplastic anemia (VSAA). There was no obvious adverse reaction in posaconazole prophylaxis group.@*Conclusion@#Posaconazole is safe and effective for primary prevention of fungal infection of SAA patients receiving IST, especially for the VSAA.
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Objective@#To evaluate the clinical characteristics, MYD88L265P mutation, CXCR4WHIM mutation and prognosis in patients with Waldenström macroglobulinemia (WM).@*Methods@#The clinical characteristics, International Prognostic Scoring System for symptomatic WM (WPSS) , and overall survival (OS) were retrospectively assayed in 93 patients with newly diagnosed WM at Peking Union Medical College Hospital during January 2000 to August 2016. The MYD88L265P mutation and CXCR4WHIM mutation were tested among 34 patients.@*Results@#The median age of the 93 patients was 64 years (range, 33-85 years) with a male-to-female ratio of 2.44. According to WPSS, we included 16 (17.2%) low-risk, 44 (47.3%) intermediate-risk and 33 (35.5%) high-risk patients. Eight patients had secondary amyloidosis. With a median follow-up of 44 (1-201) months, the median OS was 84 months. Cox regression multifactor analysis showed WPSS risk group (HR=2.342, 95% CI 1.111-4.950, P=0.025) , whether patients had secondary amyloidosis (HR=5.538, 95% CI 1.958-15.662, P=0.001) and whether patients received new drugs (HR=3.392, 95% CI 1.531-7.513, P=0.003) were independent factors associated with OS. We have investigated the presence of the MYD88L265P and CXCR4WHIM mutation in 34 patients and found that MYD88L265P mutation was occurred in 32 patients (94.1%) and CXCR4WHIM mutation was occurred in 8 patients (23.5%). Seven of 8 patients who harbored CXCR4WHIM-mutated also exhibited the MYD88L265P mutation. Patients with MYD88L265PCXCR4WHIM vs MYD88L265PCXCR4WT presented with more severe anemia, lower platelet level, higher M protein level and more hyper-viscosity syndrome.@*Conclusion@#WPSS risk group, whether patients had secondary amyloidosis or received new drugs are independent factors for OS in WM. MYD88L265P and CXCR4WHIM mutation, the most common somatic variants in WM, often occur together and impact the clinical presentation.
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Objective@#To evaluate the efficacy and safety of maintenance therapy with reduced dose of rhTPO in the patients with primary immune thrombocytopenia (ITP) who attained stable platelet (PLT) counts after daily administration of rhTPO.@*Methods@#Treatment was started with a daily administration of rhTPO (300 U/kg) for 2 consecutive weeks. Patients who attained stable PLT≥50×109/L were enrolled to maintenance therapy starting with every other day administration of rhTPO, then adjusted dose interval to maintain platelet count (30-100) ×109/L.@*Results@#A total of 91 eligible patients were enrolled. Fourteen patients discontinued the study due to noncompliance (12/14) and investigator decision (2/14) . Among 77 patients who completed the study, 38 patients with the administration of rhTPO at every other day or less could maintain PLT≥30×109/L for 12 weeks. The percentage of patients with a platelet response (PLT≥30×109/L) at 4th week, 8th week and 12th week of maintain therapy was 92.6% (63/68) , 82.7% (43/52) and 85.0% (34/40) , respectively. Median platelet counts remained in the range of (70-124) ×109/L. The overall incidence of rhTPO-related adverse events was 7.7%. All the adverse events were generally mild.@*Conclusion@#Extending the dose interval of rhTPO is feasible to maintain stable platelet count in the patients with ITP, but the optimal dose interval is uncertain and might vary with individuals.
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<p><b>OBJECTIVE</b>To evaluate the safety of polyethylene glycol conjugated L-asparaginase (PEG-Asp) for patients with adult acute lymphoblastic leukemia (ALL) and T cell non-Hodgkin lymphoma (T-NHL).</p><p><b>METHODS</b>A retrospective analysis was conducted on the clinical data of 101 young patients (≤40 years old) with ALL and T-NHL, diagnosed at Peking Union Medical College Hospital between January 2012 and June 2014.</p><p><b>RESULTS</b>A total of 480 doses of PEG-Asp were administered in 44 cases with ALL and 57 patients with T-NHL. Only one patient (0.2%) experienced mild allergic reaction. Other grade 3 or 4 toxicities of non-hematologic effects included low level of fibrogen (6.4%), elevated ALT (4.4%), blood glucose (2.3%), and triglyceridemia (2.3%), decreased albumin (0.8%) and elevated amylase (0.2%). Furthermore, 5 cases (1.0%) developed venous thrombosis, 9 cases (1.9%) hemorrage, 1 patient (0.2%) non-necrosis pancretitis.</p><p><b>CONCLUSION</b>The risk of allergic reaction incurred by PEG-Asp is very low. It can be used safely in ALL and T-NHL. Coagulation status should be monitored during the treatment.</p>
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Adulto , Humanos , Asparaginasa , Linfoma de Células T , Polietilenglicoles , Leucemia-Linfoma Linfoblástico de Células Precursoras , Estudios Retrospectivos , Trombosis de la VenaRESUMEN
<p><b>OBJECTIVE</b>To investigate the characteristics, treatment and outcome of patients with primary central nervous system lymphoma （PCNSL）.</p><p><b>METHODS</b>A total of 37 patients with PCNSL treated in Peking Union Medical College Hospital from June 1999 to June 2012 were enrolled into this retrospective study. The clinical characteristics, results of treatment and prognostic factors were analyzed.</p><p><b>RESULTS</b>The median age of 37 patients with PCNSL at diagnosis was 57 years（range 17 to 78 years） with a male to female ratio of 2.7:1. The symptoms or signs of elevated intracranial pressure and cognitive dysfunction were the most common initial manifestations. The median time period between onset of symptoms and diagnosis was 1.5 months. The majority of lesions were located in the cerebral hemisphere. At a median follow-up of 50 months, the median overall survival for all treated patients was 36.0 months （95% CI 21.7-50.3 months）, with a progression-free survival of 18.0 months（95% CI 9.1-26.9 months）. The 3-year cumulative survival rate was 46.9%. Compared to chemotherapy alone, combined-modality regimens which did not improve outcome were associated with a greater risk of neurotoxicity.</p><p><b>CONCLUSION</b>The prognosis of PCNSL was still poor, and the optimal treatment strategy for these patients should be explored in the future clinical trials.</p>
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Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven , Beijing , Neoplasias del Sistema Nervioso Central , Diagnóstico , Patología , Supervivencia sin Enfermedad , Linfoma no Hodgkin , Pronóstico , Estudios Retrospectivos , Tasa de SupervivenciaRESUMEN
<p><b>OBJECTIVE</b>To evaluate three methods of ¹⁸F-FDG PET/CT in detecting bone marrow infiltration in patients with newly diagnosed diffuse large B-cell lymphoma.</p><p><b>METHODS</b>Seventy-seven patients with newly diagnosed diffuse large B-cell lymphoma from July 2012 to June 2014 were retrospectively analyzed. All patients received both ¹⁸F-FDG PET/CT scan and bone marrow biopsy in the region of the posterior iliac crests. There were three evaluation methods of ¹⁸F-FDG PET/CT to detect bone marrow infiltration, including visual comparison (the FDG uptake in bone marrow of iliac crests was higher than the normal liver tissue), the maximal standardized uptake values (SUV(max)) in bone marrow of iliac crests (more than or equal to 2.5), the ratio of maximal standardized uptake values of iliac crests bone marrow to liver parenchyma intensity (more than 1). All results were compared with the bone marrow biopsy.</p><p><b>RESULTS</b>Visual comparison of ¹⁸F-FDG PET/CT could be used to diagnose bone marrow infiltration, with the sensitivity of 100.00%, specificity of 80.00%, positive predictive value of 48.00%, and negative predictive value of 100.00%. When the SUV(max) of iliac crests was used as the diagnostic threshold, the sensitivity was 75.00%, with 92.31% specificity, 64.29% positive predictive value, and 95.24% negative predictive value. The ratio of SUV(max) had the best diagnostic efficiency, with sensitivity of 100.00%, specificity of 90.77%, positive predictive value of 66.67%, and negative predictive value of 100.00%.</p><p><b>CONCLUSION</b>The ratio of SUV(max) is a valuable diagnostic method in detecting diffuse large B-cell lymphoatic bone marrow involvement.</p>
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Humanos , Biopsia , Médula Ósea , Fluorodesoxiglucosa F18 , Linfoma de Células B Grandes Difuso , Imagen Multimodal , Tomografía de Emisión de Positrones , Estudios Retrospectivos , Tomografía Computarizada por Rayos XRESUMEN
<p><b>OBJECTIVE</b>To explore the clinicopathologic features, immunophenotype, differential diagnosis and gene mutation status of the Erdheim-Chester disease (ECD).</p><p><b>METHODS</b>Clinical and pathologic findings of 3 ECD cases were examined by gross, microscopic, immunohistochemical methods and BRAF V600E mutation. Related literatures were reviewed.</p><p><b>RESULTS</b>Two male patients and one female patient presented clinically with multiple skin nodules, bone pain and bony lesions by imaging study. Microscopically, the lesions were composed of spindle-shaped fibroblasts, foamy histiocytes and scattered Touton-type giant cells embedded in reactive fibrous tissue. Lymphocytes, plasma cells, and multinucleated giant cells were also found. Immunohistochemically, all histiocytes were positive for CD68, none of which expressed CD1a, although 2 cases focally expressed weak S-100 stain. In 2 cases,BRAF V600E mutation was detected.</p><p><b>CONCLUSIONS</b>ECD is a rare disease of xanthogranulomatous histiocytosis.Its diagnosis relies on pathological and immunohistochemical findings, but correlation with clinical information, especially radiographic findings should be performed.No effective treatment of the disease is currently available.</p>
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Femenino , Humanos , Masculino , Antígenos CD , Antígenos CD1 , Antígenos de Diferenciación Mielomonocítica , Diagnóstico Diferencial , Enfermedad de Erdheim-Chester , Genética , Alergia e Inmunología , Patología , Mutación , Proteínas S100 , Resultado del TratamientoRESUMEN
<p><b>OBJECTIVE</b>To analyze the clinical features, prognostic factors, diagnostic methods and treatment outcomes of primary breast lymphoma (PBL).</p><p><b>METHODS</b>The clinical data of 14 patients diagnosed with PBL between 2000.1 and 2013.6 were analyzed retrospectively.</p><p><b>RESULTS</b>The 14 patients were diagnosed with PBL, which comprised 0.24% and 0.54% of all breast malignancies and lymphoma, respectively. The median age was 43(20-77) years. All but one was female. The median course before diagnosis was 1(0.17-12) month. There were 9 patients with international prognostic index (IPI) 0 and 5 with IPI 1. The most common histological subtypes were diffuse large B cell lymphoma (DLBCL) with total 11 cases (78.6%), there was 1 case (7.1%) in each of extranodal margin zone lymphoma, peripheral T cell lymphoma(PTCL) and small lymphocytic lymphoma (SLL), respectively. Patients treated with radical operation versus local mass removing or needle biopsy were 6(42.9%) and 8(57.1%), respectively, there were 2 relapses in each group. Patients treated with or without rituxinmab combined with chemotherapy were 6(42.9%) and 7(50.0%), respectively, there were 3 and 1 relapses in each group, respectively. Three (21.4%) patients received intrathecal injection (IT). There were 3(21.4%) cases of central nervous system (CNS) relapse, who were not received IT. After the median follow-up of 45.2 (10.7-116.1) months, two patients died of disease progression. The median overall survival did not reach and median progression free survival was 73 (11- 116) months.</p><p><b>CONCLUSION</b>The most common histological subtype in patients with PBL was DLBCL, the role of rituxinmab in the treatment was not sure, CNS relapse should be monitored closely.</p>