Acute Megakaryoblastic Leukemia with Trisomy 21 and Tetrasomy 21 Clones in a Phenotypically Normal Child with Mosaic Trisomy 21.
- Resource Type
- Article
- Authors
- Won, Eric; Gruber, Tanja A.; Tucker, Suzanne; Schiff, Deborah E.
- Source
- Case Reports in Pediatrics. 3/17/2020, p1-4. 4p.
- Subject
- *DOWN syndrome
*ACUTE leukemia
*ACUTE myeloid leukemia
- Language
- ISSN
- 2090-6803
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. [ABSTRACT FROM AUTHOR]