伴 20q 缺失骨髓增生异常的 Diamond-Blackfan 贫血患者中的非典型幼红细胞增多症。
Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.
机构信息
Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Department of Perinatal and Pediatric Medicine, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
出版信息
Int J Hematol. 2018 Aug;108(2):228-231. doi: 10.1007/s12185-018-2424-4. Epub 2018 Feb 23.
Diamond-Blackfan anemia (DBA) is a congenital red cell aplasia arising from ribosomal protein (RP) defects. Affected patients present with neonatal anemia, occasional dysmorphism, and cancer predisposition. An anemic newborn was diagnosed with DBA due to RPL5 mutation (c.473_474del, p.K158SfsX26). Refractory anemia required regular transfusions and iron chelation therapy. Pancytopenia occurred at age 16 years. Bone-marrow studies showed myelodysplasia, erythroblastosis, and clonal evolution of del(20)(q11.2q13.3). Severe anemia required transfusions. Del(20q), including the L3MBTL1 gene, is reported to be relevant to the hematological phenotype of Shwachman-Diamond syndrome. A combined defect of RPL5 and L3MBTL1 may contribute to the aberrant erythropoiesis in the present case.
Diamond-Blackfan 贫血（DBA）是一种源于核糖体蛋白（RP）缺陷的先天性红细胞生成障碍性疾病。受影响的患者表现为新生儿贫血、偶有畸形和癌症易感性。一名贫血的新生儿因 RPL5 突变（c.473_474del，p.K158SfsX26）被诊断为 DBA。难治性贫血需要定期输血和铁螯合治疗。16 岁时出现全血细胞减少症。骨髓研究显示骨髓增生异常、成红细胞增多和 del(20)(q11.2q13.3)的克隆演变。严重贫血需要输血。据报道，del(20q) 包括 L3MBTL1 基因与 Shwachman-Diamond 综合征的血液学表型相关。RPL5 和 L3MBTL1 的联合缺陷可能导致本病例异常的红细胞生成。
Zotero 插件