Pediatric inherited cancer predisposition syndromes are a group of diseases caused by germ-line mutation of cancer related genes. The patients are susceptible to cancers. TP53 germ-line mutation is the most commonly seen mutant gene in cancers that accounts for 20%-30%of all germ-line mutations of inherited cancers. TP53 gene mutation screening could help clinicians to better manage the patients and their family members.

Objective:To investigate the safety of Rituximab combined with intensive chemotherapy in the treatment of aggressive mature B-cell lymphoma/leukemia in children.Methods:The clinical data of 77 patients with primary pediatric aggressive mature B-cell lymphoma/leukemia who were treated according to the Chinese Children Cancer Group(CCCG)-mature B-cell lymphoma(BNHL)-2015 protocol at Shanghai Children′s Medical Center, School of Medicine, Shanghai Jiaotong University School from November 1, 2014 to July 31, 2018 were collected.A comparison was drawn on the adverse reactions and recovery of immune function indexes between patients in the Rituximab combined with intensive chemotherapy group (R4 group) and the chemotherapy alone group (R3 group).Results:Rituximab combined with AA was associated with a significantly lower platelet count [79.5%(35/44 cases) vs.54.5%(24/44 cases), χ2=6.223, P=0.011] and a higher incidence of infection [70.5%(31/44 cases) vs.36.4%(16/44 cases), χ2=10.275, P=0.001] compared with AA alone; Rituximab combined BB was associated with a higher incidence of mucositis and infection compared with BB alone [40.8%(20/49 cases) vs.29.3%(22/75 cases) and 85.7%(42/49 cases) vs. 72.0%(54/75 cases), respectively], but the differences were not statistically significant.A greater proportion of patients in the R4 group had a decrease in peripheral blood CD 19 positive cells (no statistically significant difference, P>0.05) and a greater proportion had a decrease in serum IgG ( P<0.05) compared to the R3 group, but there was no significant difference in treatment-related mortality between both groups.For patients in the R4 group, the average recovery time of IgG and IgM level was 13.1 months, and the longest recovery time was 31 months after the end of treatment. Conclusions:Rituximab combined with intensive chemotherapy is generally safe in the treatment of aggressive mature B-cell lymphoma/leukemia in children.However, it is often accompanied with prolonged immunoglo-bulin deficiency and the potential risk of secondary infection.Therefore, the strict control over the indications for its application is required, and the gamma globulin replacement therapy deserves to be investigated in the future.

Objective:To summarize the clinical characteristics, prognostic factors and treatment outcomes of childhood aggressive mature B-cell lymphoma after liver transplantation.Methods:This retrospective study included 18 children with newly diagnosed aggressive mature B-cell lymphoma after liver transplantation and treated from June 2018 to June 2022 in the Department of Hematology and Oncology of Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine. Clinical characteristics, treatment and outcomes of patients at last evaluation were analyzed. Overall survival (OS) and event free survival (EFS) rates were calculated by Kaplan-Meier method and Log-Rank analysis was performed to find factors of poor prognosis.Results:Among all 18 patients, there were 6 males and 12 females, and the age of onset was 40 (35, 54) months. The interval from transplant to tumor diagnosis was 21 (17, 35) months and 5 patients had early onset disease (<1 year since transplant). Seventeen patients had abdominal lesions. Diarrhea, vomiting and abdominal masses were the main clinical manifestations. All patients were Epstein-Barr virus (EBV) related posttransplant lymphoproliferative disorders (PTLD). One patient received individualized therapy due to critical sick at diagnosis, and the remaining 17 patients received CP (cyclophosphamide, methylprednisolone plus rituximab) and (or) modified EPOCH (prednisone, etoposide, doxorubicin, vincristine, cyclophosphamide plus rituximab) regimens. Of all 18 patients, 15 cases got complete response, 2 cases got partial response, 1 patient died of severe infection. The 2-year OS and EFS rates of 18 patients were (94±5)% and (83±8)%, respectively. None of age, gender or early onset disease had effect on OS and EFS rates in univariate analysis (all P>0.05). Conclusions:The symptoms of PTLD were atypical. Close surveillance of EBV-DNA for patients after liver transplantation was crucial to early stage PTLD diagnosis. CP or modified EPOCH regimen was efficient for pediatric patients with aggressive mature B cell lymphoma after liver transplantation.