GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia. Issue 4 (May 2018)

• Record Type: Journal Article
• Authors: Vinh, Donald C.; Palma, Laura; Storring, John; Foulkes, William D.
• Is Part Of: Journal of pediatric hematology/oncology. Volume 40:Issue 4(2018)
• Publication Date: 2018-05
• Subjects: GATA2 -- myelodysplasia -- adolescent -- chromosomal anomaly -- genitourinary abnormality; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001136
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : GATA2 deficiency is an inherited bone marrow failure syndrome that can manifest with myelodysplasia (myelodysplastic syndrome) with chromosomal aberrations and high risk of evolution to leukemia (particularly, acute myeloid leukemia); immunodeficiency with opportunistic infections; and/or lymphedema. It can be transmitted in families in autosomal-dominant fashion, or present de novo as sporadic disease in adults or children. The authors report a case of an adolescent male with features of GATA2 deficiency resulting from a complete monoallelic deletion, review chromosomal anomalies associated with this disorder, and discuss the management implications.