Philadelphia chromosome-positive acute lymphoblastic leukemia and Down syndrome.
Children with Down syndrome (DS) are at high risk of developing acute lymphoblastic leukemia (ALL), but Philadelphia chromosome-positive (Ph+) ALL is rare in DS children. We report a case of Ph+ALL with DS complicated by chronic heart failure. Complete molecular remission was obtained after imatinib-combined chemotherapy, although infectious episodes during the neutropenic period worsened the heart condition. After two courses of intensification chemotherapy, the patient underwent reduced intensity stem cell transplantation from an HLA-identical sibling donor followed by post-transplant imatinib. The patient maintained molecular complete remission for >2 years. This case report is the first description of the safe and effective use of imatinib for DS-Ph+ALL. This case suggests the potential of molecular targeting therapy in DS-ALL, which is often complicated by congenital diseases, and the importance of treating DS-ALL while maintaining intensity and reducing treatment-related toxicity.
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.|Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Hiroshima, Japan.|Department of Pediatrics, Shobara Red Cross Hospital, Shobara, Hiroshima, Japan.
Moe
M
Tamaura
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.
Fuminori
F
Iwasaki
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.
Tomoko
T
Yokosuka
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.
Kunio
K
Fukuda
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.
Satoshi
S
Hamonoue
Division of Hemato-Oncology and Regenerative Medicine, Kanagawa Children's Medical Center, Yokohama, Japan.
Hiroaki
H
Goto
D004314:Down Syndrome / Q000150:complications / Q000235:genetics*; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D010677:Philadelphia Chromosome; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D012074:Remission Induction; D014184:Transplantation, Homologous
Down syndrome; Philadelphia chromosome; acute lymphoblastic leukemia; molecular targeting therapy; reduced intensity transplantation