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

Pediatric Blood and Cancer

Volumn 50, Issue 3, 2008, Pages 630-632

  Hochberg, Jessica C ^a,d   Miron, Patricia M ^a   Hay, Beverly N ^a   Woda, Bruce A ^a   Wang, Sa A ^a   Richert Przygonska, Monika ^b   Aprikyan, Andrew A G ^c   Newburger, Peter E ^a  

^a UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^b University Hospital   (Poland)

^c UNIVERSITY OF WASHINGTON   (United States)

^d Internal Medicine New York Presbyterian   (United States)

Author keywords

Agranulocytosis; Congenital neutropenia; Cytogenetics; DNA index; GFI1; Leukopenia

Indexed keywords

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLOOD; BONE MARROW; CASE REPORT; DNA DETERMINATION; FLOW CYTOMETRY; GENE MUTATION; GENE SEQUENCE; HUMAN; LEUKOPENIA; MALE; MOSAICISM; NEUTROPENIA; PRIORITY JOURNAL; TETRAPLOIDY;

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;

EID: 38549100119     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.21094     Document Type: Article

References (17)

1. Aprikyan AA, Kutyavin T, Stein S, et al. Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia. Exp Hematol 2003;31:372-381.
2. Dale DC, Cottle TE, Fier CJ, et al. Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol 2003;72:82-93.
3. Rosenberg PS, Alter BP, Bolyard AA, et al. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006;107:4628-4635.
4. Freedman MH, Bonilla MA, Fier C, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000;96:429-436.
5. Barch MJ, Knutsen T, Spurbeck JL, et al. The AGT Cytogenetics Laboratory Manual. 3 ed. Philadelphia: Lippincott-Raven Publishers, 1997.
6. Wang S, Li N, Heald P, et al. Flow cytometric DNA ploidy analysis of peripheral blood from patients with sezary syndrome: Detection of aneuploid neoplastic T cells in the blood is associated with large cell transformation in tissue. Am J Clin Pathol 2004;122:774-782.
7. Aprikyan AAG, Dale DC. Mutations in the neutrophil elastase gene in cyclic and congenital neutropenia. Curr Opin Immunol 2001;13:535-538.
8. Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003;34:308-312.
9. Morris JF, Hromas R, Rauscher FJ, III. Characterization of the DNA-binding properties of the myeloid zinc finger protein MZF1: Two independent DNA-binding domains recognize two DNA consensus sequences with a common G-rich core. Mol Cell Biol 1994;14:1786-1795.
10. Vulliamy TJ, Marrone A, Knight SW, et al. Mutations in dyskeratosis congenita: Their impact on telomere length and the diversity of clinical presentation. Blood 2006;107:2680-2685.
11. Goldman F, Bouarich R, Kulkarni S, et al. The effect of TERC haploinsufficiency on the inheritance of telomere length. Proc Natl Acad Sci USA 2005;102:17119-17124.
12. Berliner N, Horwitz M, Loughran TP, Jr. Congenital and acquired neutropenia. Hematology (Am Soc Hematol Educ Program) 2004;2004:63-79.
13. Scarbrough PR, Hersh J, Kukolich MK, et al. Tetraploidy: A report of three live-born infants. Am J Med Genet 1984;19:29-37.
14. Rojanasakul A, Gustavson KH, Lithell H, et al. Tetraploidy in two sisters with the polycystic ovary syndrome. Clin Genet 1985;27:167-174.
15. Wullich B, Henn W, Groterath E, et al. Mosaic tetraploidy in a liveborn infant with features of the DiGeorge anomaly. Clin Genet 1991;40:353-357.
16. Aughton DJ, Saal HM, Delach JA, et al. Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: Case report and literature review. Clin Genet 1988;33:299-307.
17. Karteszi J, Kosztolanyi G, Czako M, et al. Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. Clin Dysmorphol 2006;15:29-31.