(1) Department of Medical Oncology, Tata Memorial Hospital, Parel, 400012 Mumbai, India;(2) Cancer Cytogenetics Laboratory, Tata Memorial Hospital, Parel, Mumbai, India
Abstract:
The incidence of acute leukemia in children with Down syndrome (DS) is high as compared to general population. Recent findings
have demonstrated that DS children with acute myeloid leukemia (AML) have the highest event free survival rates with high
dose cytosine arabinoside (Ara-C). We present 3 year-old DS female child with AML-M5, whose chromosomal analysis revealed
constitutional t(21;21) alongwith del(5)(q31q33) and a unique translocation t(16;20)(q13;q12). After chemotherapy, child achieved
complete clinical remission. Karyotype analysis of remission marrow showed disappearance of abnormal clone of der(20) t(16;20)(q13;q12),
del(5q) indicating cytogenetic remission too. This case alongwith supportive literature indicate that pediatric DS-AML is
a distinct biologic sub-group differs from that of non-DS-AML with respect to chemosensitivity.