Down syndrome associated childhood myeloid leukemia with yet unreported acquired chromosomal abnormalities and a new potential adverse marker: dup(1)(q25q44)

• Published in: Molecular cytogenetics Vol. 11; no. 1; pp. 22 - 6
• Main Authors: Moassass, Faten, Wafa, Abdulsamad, Liehr, Thomas, Al-Ablog, Ayman, Al Achkar, Walid
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 13.03.2018; BioMed Central; BMC
• Subjects: Acquired chromosomal abnormalities (ACAs); AML; Analysis; Case Report; Clone evolution; Complications and side effects; Cytogenetics; Down syndrome; Fluorescence in situ hybridization; Genetic aspects; Myeloid leukemia; Risk factors; Trisomy 21; Syria; Germany; AML; Fluorescence in situ hybridization (FISH); Trisomy 21; Clone evolution; Acquired chromosomal abnormalities (ACAs); Cytogenetics; Down syndrome; Prognostic factors
• ISSN: 1755-8166; 1755-8166
• DOI: 10.1186/s13039-018-0370-8

Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death. There are only few studies yet focusing on the clonal cytogenetic changes during evolution of ML-DS. In a 1.4-year-old boy with DS an immunophenotype consistent with AML-M1 according to French-American-British (FAB) classification was diagnoses. Cytogenetic and molecular cytogenetic analyses revealed, besides constitutional free trisomy 21, an unbalanced translocation as der(16)t(1;16)(q25.3;q24), plus a balanced translocation t(3;20)(q25;q13.1). A poor clinical outcome was observed here. To the best of our knowledge, an ML-DS case associated with identical acquired chromosomal abnormalities was not previously reported. Our findings suggest that especially partial trisomy 1q25 to 1q44 may be indicative for a poor prognosis in ML-DS.