Lessons from familial myeloproliferative disorders.
Lessons from familial myeloproliferative disorders.
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家族性骨髓增生性疾病的教训。
DOI：
10.1053/j.seminhematol.2005.08.002
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发表时间：
2005
影响因子：
3.6
通讯作者：
J. Prchal
中科院分区：
文献类型：
--
作者：
R. Skoda;J. Prchal
根据定义，骨髓增生性疾病(MPD)是由造血祖/干细胞的获得性体细胞突变引起的，并有零星发生。然而，有充分记录的家庭中，一级亲属患有一种或几种MPD。可以合理地假设，胚系突变(S)或遗传背景一定促进或易于导致一个或多个导致MPD的体细胞突变(S)，而MPD与散发形式无法区分。这在家族性真性红细胞增多症(PV)中得到了最好的证明，这种疾病似乎是一种遗传的常染色体显性遗传疾病，具有不完全的外显性。然而，也有一些家庭的成员会患上MPD的任何组合，包括PV、原发性血小板增多症(ET)、慢性粒细胞白血病(CML)和特发性骨髓纤维化(IMF)。另一组家族性疾病是家族性血小板增多症，其中血小板生成素或其受体MPL基因的胚系突变导致多克隆性遗传性血小板增多症，在临床上可能与ET无法区分。先天性红细胞增多症(原发家族性和先天性红细胞增多症(PFCP))的患者具有与PV类似的典型的红细胞生成素(EPO)水平降低、高敏感的红系祖细胞和低EPO水平；因此，这种情况经常被混淆为PV。因此，这里也将讨论PFCP，而其他先天性红细胞增多症，如Chuvash红细胞增多症，由于其独特的表型和独特的实验室特征，将在本综述中省略，这些状态的EPO水平升高或不适当地正常。
By definition, myeloproliferative disorders (MPDs) are caused by an acquired somatic mutation of a hematopoietic progenitor/stem cell and have sporadic occurrence. However, well-documented families exist with first-degree relatives acquiring one or several MPDs. It is reasonable to assume that the germ-line mutation(s) or genetic background must facilitate or predispose for one or several somatic mutation(s) that lead to the MPD that is indistinguishable from the sporadic form. This is best documented in familial polycythemia vera (PV), which appears to be inherited as an autosomal dominant disorder with incomplete penetrance. However, there are also families wherein members develop any combination of MPDs, including PV, essential thrombocythemia (ET), chronic myelocytic leukemia (CML), and idiopathic myelofibrosis (IMF). A separate group of familial diseases is the familial thrombocythemias, wherein germ-line mutations in the genes for thrombopoietin or its receptor, MPL, cause polyclonal hereditary thrombocythemia, which may be clinically indistinguishable from ET. Patients with the congenital polycythemic condition "primary familial and congenital polycythemia" (PFCP) have characteristically decreased erythropoietin (Epo) levels similar to PV, hypersensitive erythroid progenitors, and low Epo levels; as such, this condition is often confused with PV. Therefore, PFCP will also be discussed here, while other congenital polycythemic states such as the Chuvash polycythemia that have elevated or inappropriately normal Epo levels will be omitted from this review in view of their distinct phenotype and unique laboratory features.
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促红细胞生成素受体突变与人类疾病。
DOI：
--
发表时间：
1997
期刊：
Seminars in hematology.
影响因子：
--
作者：
Gregg,XT;Prchal,JT
通讯作者：
Prchal,JT
影响因子：
20.3
作者：
Steensma, DP;Dewald, GW;Tefferi, A
通讯作者：
Tefferi, A
影响因子：
50.3
作者：
Levine, RL;Wadleigh, M;Gilliland, DG
通讯作者：
Gilliland, DG
先天性红细胞增多症/红细胞增多症。
影响因子：
10.1
作者：
Gordeuk,VictorR;Stockton,DavidW;Prchal,JosefT
通讯作者：
Prchal,JosefT
DOI：
10.1016/s0006-291x(03)01303-2
发表时间：
2003-08-08
影响因子：
3.1
作者：
Arcasoy, MO;Jiang, XH;Haroon, ZA
通讯作者：
Haroon, ZA