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GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different GFI1B variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potential role for GFI1B in carcinogenesis regulation. Increasing the detection of individuals with GFI1B variants will allow us to better characterize this rare disease and determine whether it is associated with an increased risk of developing malignancies.

Natural selection drove the evolution of all living beings for millions of years until mankind acquired the ability to interfere with this mechanism by counteracting the natural hazards that tend to eliminate the weakest humans and select the strongest ones for the continuation of the species.

The reference range for any blood test is defined as the set of values which 95% of the normal population falls within. When the value of a parameter varies according to specific physiological characteristics of investigated individuals, a single reference range is not sufficient, and personalized