Andrea Magni, Riccardo Pagani, Antonio Maria Alviano, Lucia Pia Bruno, Rebecca Fumagalli, Grazia Fazio, Marta Galbiati, Federica Mottadelli, Andrea Biondi, Vincenzo L'Imperio, Adriana Cristina Balduzzi, Francesca Vendemini, Francesco Saettini
Constitutional trisomy 8 mosaicism (CT8M) is a rare chromosomal disorder associated with congenital anomalies and hematologic malignancies, although its hematologic spectrum remains poorly defined. We report two institutional cases and performed a systematic review restricted to patients with trisomy 8 confirmed in both hematopoietic and non-hematopoietic tissues. Among 61 patients, hematologic abnormalities ranged from macrocytosis and cytopenias to dysplastic bone marrow changes and malignancies. No clear age-dependent peak of transformation emerged. Our findings suggest that CT8M represents a lifelong state of mosaic hematopoiesis with variable hematologic manifestations and uncertain malignant potential.