Page 264 - 2021_03-Haematologica-web

Letters to the Editor
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Figure 2. Variants confirmed by Sanger sequencing in samples taken at complete remission. nt: nucleotide; aa: amino acid.
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2A) in the N-terminal part of the protein. The patient’s family history revealed leukemia in her paternal grand- mother at the age of 30 years and childhood leukemia in her paternal aunt (Online Supplementary Figure S2). Most of the described germline CEBPA mutations include N- terminal frameshift upstream of the p30 start codon and are supposed to be highly penetrant.3 Interestingly, the CEBPA variant in our patient was subsequently found to be inherited from the proband’s father who had no his- tory of leukemia. Along with the family history, the detection of the CEBPA variant in the proband’s com- plete remission sample and in her father is consistent
with a germline mutation.
Patient n. 2 was a 13-year old girl with a GATA2 vari-
ant, likely pathogenic, involving a highly conserved zinc finger domain of the protein (NM_032638:c.1114G>A (p.Ala372Thr)) (Figure 2B). This patient had no family history of malignancies (Online Supplementary Figure S2). When achieving complete remission, the patient devel- oped a progressive decrease of neutrophils, monocytes, B cells, and natural killer cells associated with numerous infections. The GATA2 variant found in this patient was previously reported in another patient with recurrent episodes of pancytopenia, fever and infections.14 The
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haematologica | 2021; 106(3)