Abstract. Neuroblastoma, an embryonal malignancy of the sympathetic nervous system, is the most frequent extracranial solid tumor The clinico-epidemiological features of neuroblastoma in infants and children were investigated between January 2005 and January 2010 at the Pediatric Oncology units of Mansoura, Zagazig, and Tanta University Children's Hospitals (Egypt). Of 142 cases of neuroblastoma, 10 were omitted from the study due to defective data. The median age of the patients was 30 months, with 75.8% aged ≥1 year and 24.2% aged <1 year at time of diagnosis. The male-to-female ratio was 1.06. Suprarenal glands were the most common primary tumor site (72.7%). The majority of the patients (76.7%) had stage IV disease. Favorable pathology was observed in 43.8% of patients, while 56.2% exhibited unfavorable pathology. The estimated survival rate of patients was 30.7±10.0%, and mean survival time was 24.2±5.2 months. The rate of mortality was 28.6% for patients aged <1 year, and 81.8% for those aged ≥1 year (P=0.005). For patients with favorable pathology, the rate of mortality was significantly lower (28.6%) compared with that of patients with unfavorable pathology (77.8%; P=0.049). Although the association between outcome and each of the primary tumor sites, children's oncology group risk and gender was statistically insignificant, a large effect size was identified between outcome and primary tumor site, as well as children's oncology group risk and a medium effect size was identified between outcome and gender. Additionally, an age of ≥1 year was associated with unfavorable pathology (P=0.024), stage IV disease (P= 0.026) and a suprarenal primary tumor site (P=0.001).

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X-linked inhibitor of apoptosis (XIAP) deficiency is an inherited primary immunodeficiency characterized by chronic inflammasome overactivity and associated with hemophagocytic lymphohistiocytosis (HLH) and inflammatory bowel disease (IBD). Allogeneic hematopoietic cell transplantation (HCT) with fully myeloablative conditioning may be curative but has been associated with poor outcomes. Reports of reduced-intensity conditioning (RIC) and reduced-toxicity conditioning (RTC) regimens suggest these approaches are well tolerated, but outcomes are not well established. Retrospective data were collected from an international cohort of 40 patients with XIAP deficiency who underwent HCT with RIC or RTC. Thirty-three (83%) patients had a history of HLH, and thirteen (33%) patients had IBD. Median age at HCT was 6.5 years. Grafts were from HLA-matched ( n = 30, 75%) and HLA-mismatched ( n = 10, 25%) donors. There were no cases of primary graft failure. Two (5%) patients experienced secondary graft failure, and three (8%) patients ultimately received a second HCT. Nine (23%) patients developed grade II–IV acute GVHD, and 3 (8%) developed extensive chronic GVHD. The estimated 2-year overall and event-free survival rates were 74% (CI 55–86%) and 64% (CI 46–77%), respectively. Recipient and donor HLA mismatch and grade II–IV acute GVHD were negatively associated with survival on multivariate analysis with hazard ratios of 5.8 (CI 1.5–23.3, p = 0.01) and 8.2 (CI 2.1–32.7, p < 0.01), respectively. These data suggest that XIAP patients tolerate RIC and RTC with survival rates similar to HCT of other genetic HLH disorders. Every effort should be made to prevent acute GVHD in XIAP-deficient patients who undergo allogeneic HCT. Supplementary Information The online version contains supplementary material available at 10.1007/s10875-021-01103-6.

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Introduction Although sickle cell trait (SCT) is considered a benign condition, evidence has been accumulating for related complications, including isothenuria, hematuria, exercise-induced death and splenic infarction.Most splenic infarctions are reported during a hypoxic state.Non-hypoxic related splenic infarction in a patient with SCT and EBV infection has been reported once.Here we present the second case of such association. Case Report An otherwise healthy 7-year-old African American male presented with worsening LUQ abdominal pain associated with emesis, dark-colored urine and low-grade fever. There was no history of trauma. Family history was positive for SCD. On presentation, the patient had a temperature of 38.2 °C and was tachycardic. Physical examination revealed scleral icterus and conjunctival pallor. Abdomen was soft, but the spleen was tender and palpable 6 cm below the costal margin. Laboratory studies showed hemoglobin of 7.2 g/dL, MCV 72.6 fL, leukocytes 14 X 109/L with 73% neutrophils, platelet count 136 X 109/L, and reticulocyte count 8%. Peripheral blood smear didn't reveal sickling, spherocytosis nor elliptocytosis. Total bilirubin was 3.5 mg/dL, direct bilirubin 0.6 mg/dL, ALT 13 U/L, AST 57 IU/L, LDH 476 IU/L. The Direct Coombs were negative. The D-dimer was positive. The Abdominal X-ray was negative, however abdominal ultrasound showed an enlarged spleen, 13.1 cm in longitudinal diameter. An Abdominal MRI showed splenic enlargement, 13 cm in longitudinal diameter, with non-enhancing 4 cm density in anterior aspect and minimal left pleural effusion. The thrombophilia work-up was negative. EB VCA IgG and IgM antibodies levels were high (> 8 and 1 AI, respectively), consistent with late acute infection. The CMV serology was negative. G6PD screening was negative. Hemoglobin electrophoresis revealed HbA 63.9%, HbA2 3.1%, HbF 0.0%, and HbS 33%. Patient was managed conservatively with RBCs transfusion, hydration and pain control and discharged home once stable. Discussion SCT is generally considered a benign hematological condition, still evidence has been accumulating for related complications. In United States, SCT affects 6-9% of the African American population, and 0.01-0.05% of the remaining population. Splenic infarction is commonly associated with SCD, but rarely with SCT. Reported cases of splenic infarction in SCT have been predominantly related to hypoxic states, primarily in a high altitude setting. Still there have been limited reports in non-hypoxic conditions. (Kark JA and Ward FT Semin Hematol1994).One case of non-hypoxic related splenic infarction in a patient with SCT and acute EBV infection was reported (Symeonidis A et al Acta Haematol 2001). Here we report the second case. We present a non-obese, previously healthy male with no evidence of hypoxia, high altitude setting, or intensive exercise. He suffered a splenic infarction during the acute phase of EBV infection. His initial presentation was consistent with hemolytic anemia and indirect hyperbilirubinemia, which led to further work-up and the diagnosis of SCT. We postulate that hemolysis resulted from hypersplenism. Possible factors leading to infarction in SCT are the induction of sickling and the presence of a hypercoagulable state. The exposure of these HbAS erythrocytes to lower pH and hypoxia in the splenic circulation likely promotes sickling and, as a consequence, splenic infarcts. Subjects with HbAS have significantly increased levels of D-dimer, thrombin-antithrombin TAT complexes, prothrombin fragment 1.2 (F1.2) and absolute monocytosis. The African American population has a 7% risk of VTE attributable to HbAS compared to an attributable risk of 3% for prothrombin G20210A mutation in the Caucasian population. Contributing factors to splenic infarction in the presence of acute EBV infection can be thrombophilia, thrombotic microangiopathy and rapid splenic enlargement. Moreover, during an EBV infection, acute expansion of splenic red and white pulp, as well as increased blood flow and loosening of the reticular network, make the organ friable. HbS existing under such conditions may be quite unstable, which can induce sickling. Disclosures No relevant conflicts of interest to declare.