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Rubinstein–Taybi syndrome (RSTS) is an autosomal dominant disorder, caused by variants in CREBBP or EP300. Affected individuals present with distinctive craniofacial features, broad thumbs and/or halluces, intellectual disability and immunodeficiency. Here we report on one RSTS patient who experienced hemophagocytic lymphohystiocytosis (HLH) and disseminated herpes virus 1 (HSV-1) disease. The clinical picture of RSTS is expanding to include autoinflammatory, autoimmune, and infectious complications. Prompt treatment of HLH and disseminated HSV-1 can lower the mortality rate of these life-threatening conditions. [ABSTRACT FROM AUTHOR]

Heterozygous I GATA2 i variants cause a highly heterogeneous disorder encompassing myelodysplasia (MDS), acute myeloid leukemia (AML), infection susceptibility, immunodeficiency, pulmonary dysfunction and lymphoedema (ie, Emberger syndrome).[1] Although pediatric patients may display incomplete phenotype, they often present with peripheral blood abnormalities, such as leuko-neutropenia, and decreased B-cells, NK-cells, monocytes and dendritic cells (DCs). It was only after careful medical history analysis, complete blood count (CBC) monitoring and immunophenotyping that we suspected GATA2 deficiency. Firstly, unlike other germline variants predisposing to MDS syndrome, which preferentially lead to thrombocytopenia (eg, I SAMD9, SAMD9L, ANKRD26, RUNX1, ETV6 i ),[7],[8] neutropenia may be the first and leading cytopenia in GATA2 deficient patients. [Extracted from the article]

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]