Ohkawa Teppei, Miyamoto Satoshi, Sugie Manabu, Tomizawa Daisuke, Imai Kohsuke, Nagasawa Masayuki, Morio Tomohiro, Mizutani Shuki, Takagi Masatoshi
Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
Pediatr Int. 2015;57(1):e14-7. doi: 10.1111/ped.12500.
We encountered a case of neonatal acute megakaryoblastic leukemia not associated with Down syndrome (DS). Molecular cytogenetic analysis of leukemic blast cells indicated that increased blast cell status was caused by transient abnormal myelopoiesis with trisomy 21 and GATA1 mutation. Based on these molecular cytogenetic data, intensive chemotherapy was avoided, and the patient was successfully cured with low-dose cytarabine. Morphologically, leukemic blast cells of acute megakaryoblastic leukemia in a non-DS neonate are indistinguishable from a blast cell of transient abnormal myelopoiesis. The possibility of transient abnormal myelopoiesis should be carefully considered before intensive chemotherapy is adopted.
我们遇到了一例与唐氏综合征（DS）无关的新生儿急性巨核细胞白血病病例。对白血病原始细胞进行的分子细胞遗传学分析表明，原始细胞增多状态是由伴有21三体和GATA1突变的短暂异常髓系造血所致。基于这些分子细胞遗传学数据，避免了强化化疗，该患者通过小剂量阿糖胞苷成功治愈。形态学上，非DS新生儿急性巨核细胞白血病的白血病原始细胞与短暂异常髓系造血的原始细胞无法区分。在采用强化化疗之前，应仔细考虑短暂异常髓系造血的可能性。
