First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukaemia: correlation with the clinical phenotype

GLEMBOTSKY AC; MARIN OYARZUN CP; DE LUCA G; MARZAC C; AUGER N; GOETTE NP; MARTA RF; RASLOVA H; HELLER PG

HAEMATOLOGICA

FERRATA STORTI FOUNDATION

Lugar: Pavia, Italia; Año: 2020 vol. 105 p. 535 - 539

0390-6078

We report the first case of mosaicism involving blood cells in a patient belonging to an FPD/AML pedigree, induced by genetic reversion and selection of RUNX1-rescued over mutant haematopoietic cells, placing FPD/AML among genetic disorders associated with revertant mosaicism. The platelet phenotype was attenuated and improved during 12-year follow-up, in parallel with the progressive decline in the mutant cell population, as shown by the sequential decrease in RUNX1 variant allele frequency (20 to 5%).