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

Jessica C. Hochberg; Patricia M. Miron; Beverly N. Hay; Bruce A. Woda; Sa A. Wang; Monika Richert-Przygonska; Andrew A.G. Aprikyan; Peter E. Newburger

doi:10.1002/pbc.21094

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

Jessica C. Hochberg, Patricia M. Miron, Beverly N. Hay, Bruce A. Woda, Sa A. Wang, Monika Richert-Przygonska, Andrew A.G. Aprikyan, Peter E. Newburger

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	630-632
Number of pages	3
Journal	Pediatric Blood and Cancer
Volume	50
Issue number	3
DOIs	https://doi.org/10.1002/pbc.21094
State	Published - Mar 2008
Externally published	Yes

Keywords

Agranulocytosis
Congenital neutropenia
Cytogenetics
DNA index
GFI1
Leukopenia

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.21094

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title = "Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia",

abstract = "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.",

keywords = "Agranulocytosis, Congenital neutropenia, Cytogenetics, DNA index, GFI1, Leukopenia",

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AU - Hochberg, Jessica C.

AU - Miron, Patricia M.

AU - Hay, Beverly N.

AU - Woda, Bruce A.

AU - Wang, Sa A.

AU - Richert-Przygonska, Monika

AU - Aprikyan, Andrew A.G.

AU - Newburger, Peter E.

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N2 - 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.

AB - 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.

KW - Agranulocytosis

KW - Congenital neutropenia

KW - Cytogenetics

KW - DNA index

KW - GFI1

KW - Leukopenia

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

Abstract

Keywords

ASJC Scopus subject areas

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