Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1 : Cytogenetic and Molecular Characterization

Molecular Syndromology
Erica Vormittag-NocitoValerie Lindgren

Abstract

Familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML) has been well documented in the literature and is a new entity within the latest revised edition of the WHO Classification of Tumors of Hematopoietic and Lymphoid Tissues (OMIM). The disorder arises due to mutations within the RUNX1 gene in chromosome 21; mutations within the Runt-binding domain are the most commonly encountered anomalies that cause decreased platelet count and function. Rare cases of haploinsufficiency have also been shown to cause this disorder. Here, we describe a 12-year-old female with mosaicism for a ring chromosome 21 and monosomy 21 who was born with thrombocytopenia which is now explained by loss of the RUNX1 gene resulting in FPD/AML. We also comment on the structure of the ring and the mechanism of its formation.

References

Mar 1, 1989·Proceedings of the National Academy of Sciences of the United States of America·C WongS E Antonarakis
May 15, 2008·European Journal of Human Genetics : EJHG·Mylène Béri-DexheimerPhilippe Jonveaux
Jun 1, 2011·American Journal of Medical Genetics. Part a·Eleanor S ClickMelissa A Parisi
Jan 29, 2014·Annals of the New York Academy of Sciences·Allison H WestJane E Churpek
Oct 15, 2014·Seminars in Hematology·Lucy A Godley
Apr 19, 2018·Cancer Genetics·Marcela Cavalcante de Andrade SilvaElvira Deolinda Rodrigues Pereira Velloso

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