Our findings substantiate and expand the spectrum of clinical presentations of perforin deficiency, linking PRF1 missense mutations to lymphoma susceptibility and highlighting clinical variability within families. PRF1 mutations should, therefore, be considered as a cause of several diseases disparate to HLH.

F-FDG PET-CT imaging is more sensitive than BMB for BMI detection in pHL staging. BMB should be limited to those with normal marrow uptake in the presence of poor risk factors or those with diffusely increased uptake to exclude marrow involvement in the background of reactive marrow.

Introduction: Pediatric oncology patients are at increased risk of contracting healthcare-associated infections (HAIs), which are responsible for increased morbidity and mortality rates as well as treatment costs.  This study aimed to identify the frequency of HAIs among pediatric oncology patients and their outcome. Methodology: Pediatric oncology patients admitted between January 2009 and June 2010 in a pediatric ward at Aga Khan University Hospital, Karachi, Pakistan, who developed HAIs, were analyzed. Results: A total of 90 HAIs were identified in 32 patients in 70 admissions. The HAI rate among pediatric oncology patients was 3.1/100 admission episodes. Bloodstream infections (63 episodes, 90.0%) were the most common, followed by urinary tract infection (two episodes, 2.9%). Gram-positive infections were seen in 54 (60%) patients, followed by Gram-negative infection in 34 (37.8%), and fungi in 2 (2.8%) cases. Coagulase negative staphylococci was the most common Gram-positive and Escherichia coli and Pseudomonas aeruginosa were most common Gram-negative infections. Mortality rate among pediatric oncology patients who developed HAIs was 12.5% (4/32). Total parental nutrition use and length of stay longer than 30 days were the identified risk factors associated with increased mortality among pediatric oncology patients who developed HAIs. Conclusion: We report an HAI rate among pediatric oncology patients of 3.1/100 admission episodes with a mortality rate of 12.5% in Pakistan. Further studies should be done, especially in the developing world, to identify the risk factors associated with increased mortality among pediatric oncology patients so that adequate measures can be taken to reduce the mortality among these patients.

Background: Low-and middle-income countries sustain the majority of pediatric cancer burden, with significantly poorer survival rates compared to high-income countries.Collaboration between institutions in low-and middle-income countries and highincome countries is one of the ways to improve cancer outcomes.Methods: Patient characteristics and effects of a pediatric neuro-oncology twinning program between the Hospital for Sick Children in Toronto, Canada and several hospitals in Karachi, Pakistan over 7 years are described in this article.Results: A total of 460 patients were included in the study. The most common primary central nervous system tumors were low-grade gliomas (26.7%), followed by medulloblastomas (18%), high-grade gliomas (15%), ependymomas (11%), and craniopharyngiomas (11.7%). Changes to the proposed management plans were made in consultation with expert physicians from the Hospital for Sick Children in Toronto, Canada. On average, 24% of the discussed cases required a change in the original management plan over the course of the twinning program. However, a decreasing trend in change in management plans was observed, from 36% during the first 3.5 years to 16% in the last 3 years. This program also led to the launch of a national pediatric neuro-oncology telemedicine program in Pakistan.

Background:            Outcomes of pediatric mature B cell NHL in resource challenged countries are negatively affected by increased rate of early and toxic deaths. Aim of this study is to assess rate of acute mortality and define significant risk factors present in children with mature B Cell NHL. Methods: A retrospective analysis was done of patients with B cell NHL from January 2012 till December 2016. Risk factors studied for acute mortality were malnutrition, stage, prior surgery with open laparotomy, LDH levels, tumor lysis syndrome, sepsis and fungal infection Results: Total 233 patients were enrolled in the study. Eighty five (36.4%) were below 15th percentile.  Treatment was started in 226 patients. Eighty eight percent children showed 20% response after COP pre-phase. Tumor lysis syndrome was developed in 20.6 % (n = 48) children and 42.9% (n = 100) patients had sepsis, 71/100 patients had culture proven sepsis. 19.7% (n = 46) patients developed fungal infection. There was 19.7% (n = 46) acute mortality.  Most common cause of death was sepsis (n = 22, 47.8%) followed by acute renal failure secondary to tumor lysis syndrome. On multivariate analysis, three independent variables found significant for early death are malnutrition, sepsis and tumor lysis syndrome. Conclusion: Rate of acute mortality in B cell NHL is high in our set up and significant risk factors are tumor lysis syndrome, sepsis and malnourishment at time of presentation.