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Utilization of cytologic samples for clinical testing in the molecular pathology laboratory has greatly increased over recent years. As next-generation sequencing (NGS) technologies have become dominant in the diagnostic and therapeutic arenas, it is essential to optimize assays for which low input of DNA can be used to sequence large numbers of clinically actionable targets in a highly accurate and reproducible manner. This will permit

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.

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