Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21

الملخص EN

Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups: (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which generally has a poorer outcome.

We report a phenotypically normal child with AMKL with trisomy 21 (T21) and tetrasomy 21 clones.

Subsequently, she was diagnosed with mosaic T21.

She underwent reduced-intensity therapy with good outcome.

We review the literature regarding AMKL-associated cytogenetic abnormalities and AMKL in association with DS.

We suggest evaluation for mosaic T21 in phenotypically normal pediatric patients with T21-positive AML.