A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome

作者：de Souza Daiane Correa; de Figueiredo Amanda Faria; Ney Garcia Daniela R; da Costa Elaine Sobral; Othman Moneeb A K; Liehr Thomas; Abdelhay Eliana; Macedo Silva Maria Luiza; Fernandez Teresa de Souza^*

来源：Molecular Cytogenetics, 2017, 10(1): 35.

DOI：10.1186/s13039-017-0335-3

• Myeloid leukemia
• Down syndrome
• Unreported chromosomal abnormalities
• Complex karyotype
• Molecular cytogenetic
• Prognosis

Background: Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS.
Case presentation: Here, we describe a complex karyotype involving a previously unreported set of chromosomal abnormalities acquired during progression of ML-DS in an infant boy: derivative der(1) t(1; 15)(q24; q23), translocation t(4; 5)(q26; q33) and derivative der(15) t(7; 15)(p21; q23). Different molecular cytogenetic probes and probesets including whole chromosome painting (WCP) and locus specific probes, as well as, multicolor-FISH and multicolor chromosome banding (MCB) were performed in order to characterize the chromosomal abnormalities involved in this complex karyotype. The patient was treated according to the acute myeloid leukemia-Berlin-Frankfurt-Munich-2004 (AML-BFM 2004) treatment protocol for patients with Down syndrome; however, he experienced a poor clinical outcome.
Conclusion: The molecular cytogenetic studies performed, allowed the characterization of novel chromosomal abnormalities in ML-DS and possible candidate genes involved in the leukemogenic process. Our findings suggest that the complex karyotype described here was associated with the poor prognosis.

• 出版日期2017-9-11