title: Chromosomal rearrangement in Down syndrome with acute myeloid leukemia.
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.
authors: Cancer Cytogenetics Laboratory, Department of Medical Oncology, Tata Memorial Hospital, Parel, Mumbai, India.
authors: Chetana
authors: C
authors: Bakshi
authors: Pratibha
authors: P
authors: Amare Kadam
authors: Dhiraj
authors: D
authors: Abhyankar
authors: Chanda
authors: C
authors: Baisane
authors: Shripad
authors: S
authors: Banavali
authors: Suresh
authors: S
authors: Advani
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage / Q000627:therapeutic use; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D003561:Cytarabine; D003630:Daunorubicin / Q000008:administration & dosage / Q000627:therapeutic use; D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007948:Leukemia, Monocytic, Acute / Q000150:complications / Q000188:drug therapy / Q000235:genetics*; D013866:Thioguanine; D014178:Translocation, Genetic
chemical_list: D003561:Cytarabine; D013866:Thioguanine; D003630:Daunorubicin