Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia

UMMS Affiliation

Department of Pathology; Department of Pediatrics



Document Type


Medical Subject Headings

Adolescent; Adult; Chronic Disease; DNA-Binding Proteins; Genes, Dominant; Granulocytes; Humans; Leukemia; Leukopenia; Lymphoma, Follicular; Male; Mitosis; Monocytes; *Mosaicism; Mutagenesis; Neutropenia; Paraproteinemias; Pedigree; *Polyploidy; Transcription Factors


Genetics and Genomics | Medical Genetics | Pathology | Pediatrics


This report presents the case of a 15-year-old male with severe chronic neutropenia, leukopenia, and persistent tetraploid mosaicism in the bone marrow and peripheral blood. His father had mild neutropenia and bone marrow tetraploidy. Flow cytometric analysis of DNA content peripheral blood showed tetraploidy in 20% of granulocytes and 15% of monocytes. Sequence analysis of the ELA2 gene was normal, but the GFI1 gene exhibited transient appearance of single base changes the coding region and promoter. We speculate that an underlying genetic defect, inherited in an autosomal dominant pattern, leads to both disordered mitosis and neutropenia in this kindred.

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Citation: Pediatr Blood Cancer. 2008 Mar;50(3):630-2. Link to article on publisher's site

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