Ana Glembotsky: A new RUNX1 hotspot mutation in FPD/AML

Ana Glembotsky shared on X:

“Happy to share our paper describing a new RUNX1 hotspot mutation in FPD/AML. It emphasizes the need for continuous diagnostic guidelines updating and data sharing among laboratories to improve the classification and interpretation of genetic variants.”

Paula Heller shared this post on X, adding:

“Great job! Very grateful for the longstanding fruitful collaboration with the University of Pavia.”

Two novel families with RUNX1 variants indicate glycine 168 as a new mutational hotspot: Implications for FPD/AML diagnosis

Authors: Laureano J Kamiya, Serena Barozzi, Federica Isidori, Daiana Ganiewich, Geraldine De Luca, Valeria Bozzi, Rosana F Marta, Federica Melazzini, Tommaso Pippucci, Paula G Heller, Ana C Glembotsky, Alessandro Pecci 

Ana Glembotsky is an Adjunct Researcher at CONICET. She previously served as a board member of the Argentine Hemostasis and Thrombosis Group (Grupo CAHT). In 2016, she received the American Society of Hematology’s Visitor Training Program Award at Institut Gustave Roussy.