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3 The novel I PRF1 i variant (K285Sfs*4) causes very early-onset of Familial Hemophagocytic Lymphohystiocytosis type 2. 4 I PRF1 i disruptive mutations are associated with early-onset of hemophagocytic lymphohistiocytosis. Five FHL (FHL 1-5) subtypes have been identified.[1] Depending on ethnic origin,[2] variants in the I PRF1 i gene (FHL2) account for almost half of the FHL cases. Patients with at least one disruptive variant developed the disease at a significantly younger age than patients bearing non-disruptive variants.[6] Last, despite being considered a polymorphism (allele frequency 4-17%), A91V is not neutral. [Extracted from the article]

Background: The role of FDG-PET in Wilms' tumor has not been well established. The aim of this report is to describe the role of FDG-PET to assess chemotherapy efficacy and to show potential correlations between different Standardized Uptake Values (SUVs) and histopatological features in a patient with persisting metastatic disease. CASE description: A 3-year-old boy was diagnosed with Wilms' tumor without anaplasia. The patient underwent treatment as according to the AIEOP-TW-2003 protocol, for stage III tumors. Therapy was discontinued with no evidence of disease, yet 9 months later thorax metastases were found. Although second and third line treatments were administered, conventional imaging demonstrated stable disease. Metronomic chemotherapy as well was employed for 44 months and FDG-PET was annually performed basing on responsible local physician choice trying to better describe the disease status. Four months after fourth line treatment was stopped, the patient manifested clinical symptoms; lesions began to increase their metabolic activity inhomogeneously. Therapy was hence restarted and SUVs decreased. Metastasectomies were then performed and histology revealed a correlation between viable disease shown by higher FDG-PET uptake and viable tumor areas. Conclusions: Our case discussion demonstrates that FDG-PET is potentially valuable in Wilms' tumor correlating SUV values and histological features of the tumor after chemotherapy. This case suggests that FDG-PET is a valid tool to assess chemotherapy response in relapsed Wilms' tumor even in case of no evidence of significant dimensional changes under conventional imaging. [ABSTRACT FROM AUTHOR]