3q21q26 Syndrome after ATG/CyA/G-CSF Combined Therapy in a Child with Aplastic Anemia

• Published in: The Japanese Journal of Pediatric Hematology Vol. 20; no. 6; pp. 586 - 590
• Main Authors: YABE, Miharu, YABE, Hiromasa, KONDOH, Kensuke, SHIMADA, Onji, KINOSHITA, Akitoshi
• Format: Journal Article
• Language: Japanese
• Published: THE JAPANESE SOCIETY OF PEDIATRIC HEMATOLOGY/ONCOLOGY 2006; 特定非営利活動法人 日本小児血液・がん学会
• Subjects: 3q21q26 syndrome; aplastic anemia; G-CSF; monosomy 7; secondary leukemia
• ISSN: 0913-8706; 1884-4723
• DOI: 10.11412/jjph1987.20.586

A 6-year-old boy was diagnosed with aplastic anemia. His initial bone marrow showed a normal karyotype and trilineage hypoplasia. He was enrolled in AA-97 protocol including immunosuppressive therapy consisting of antithymocyte globulin, cyclosporin and granulocyte colony-stimulating factor, which resulted in hematological remission. Eighteen months later, his bone marrow showed t (3;3) (q21;q26) clones in 3 of the 20 cells. His peripheral blood and bone marrow morphology did not show any abnormalities at that time, but he soon developed neutropenia, anemia and thrombocytosis. His marrow karyotype in 3 months revealed t (3;3) (q21;q26) clones with a monosomy of chromosome 7 in 20 of the 30 cells. The percentage of myeloblast and megakaryocyte in the marrow was 6.5% and 3.5%, respectively, leading to the diagnosis of myelodysplastic syndrome. Dysmegakaryopoiesis including micromegakaryocyteswas also recognized. He developed acute myeloid leukemia (FAB M6) over 3 months. He received a bone marrow transplant from an unrelated donor, and now almost a year has passed since off-therapy in complete remission. AML or MDS associated with 3q21q26 chromosome abnormalities, the so-called 3q21q26 syndrome, has been reported since the mid-1970s. To our knowledge, this is the first case that developed 3q21q26 syndrome after immunosuppressive therapy conducted for aplastic anemia.