Unusual diffuse liver fibrosis accompanying transient myeloproliferative disorder in Down's syndrome: a report of four autopsy cases and proposal of a hypothesis.
Unusual diffuse liver fibrosis accompanying transient myeloproliferative disorder in Down's syndrome: a report of four autopsy cases and proposal of a hypothesis.
复制标题
唐氏综合症中伴有短暂性骨髓增生性疾病的异常弥漫性肝纤维化：四例尸检病例的报告和假设的提出。
作者：
J. Miyauchi;Y. Ito;T. Kawano;Y. Tsunematsu;K. Shimizu
短暂性骨髓增生性疾病（TMD）是唐氏综合征新生儿的一种急性白血病样疾病，其特征是异常细胞生长的自发消退。由于增殖母细胞经常表达巨核细胞谱系的表型，因此，这种疾病类似于急性巨核母细胞白血病（AMKL），因此确定骨髓纤维化（AMKL的常见并发症）是否也存在于TMD中是有意义的。4例TMD尸检病理观察均未见骨髓纤维化，但均可见小叶内弥漫性肝纤维化。另外4例患者的实验室数据均显示肝功能不全，提示肝脏病变与TMD密切相关。根据这些结果，我们提出了一种假设，即TMD中具有巨核细胞特性的异常母细胞起源于胎儿肝脏并引起肝纤维化，因为AMKL细胞被认为通过在骨髓中产生促胶原细胞因子而引起骨髓纤维化。这一假设似乎也解释了TMD的其他一些独特方面。
Transient myeloproliferative disorder (TMD), an acute leukemia-like disorder in neonates with Down's syndrome, is characterized by spontaneous regression of abnormal blast growth. Because proliferating blasts frequently express phenotypes of megakaryocytic lineage and, as a result, this disorder resembles acute megakaryoblastic leukemia (AMKL), it would be of interest to determine whether myelofibrosis, a common complication of AMKL, is also present in TMD. Pathologic observations of four autopsy cases of TMD showed that myelofibrosis was not present in any of them, whereas intralobular diffuse liver fibrosis was present in all of them. Laboratory data of four additional cases showed hepatic dysfunction in all of them, suggesting a close association between hepatic lesions and TMD. From these results, we propose a hypothesis that the abnormal blasts with megakaryocytic properties in TMD originate from the fetal liver and cause liver fibrosis, as AMKL cells are thought to cause myelofibrosis by producing collagen-stimulating cytokines in the bone marrow. This hypothesis also seems to explain some other unique aspects of TMD.
患有唐氏综合症的白血病：短暂性先天性骨髓增殖综合症后急性粒单核细胞白血病中 1 号和 19 号染色体之间的易位。
影响因子：
20.3
作者：
Morgan,R;Hecht,F;Cleary,ML;Sklar,J;Link,MP
通讯作者：
Link,MP