Rendo Matthew, Cavacece Christian, Kou Chung-Ting J, Beeler Bradley W, Fenderson Joshua
Hematology and Oncology, Brooke Army Medical Center, San Antonio, USA.
Internal Medicine, Brooke Army Medical Center, San Antonio, USA.
Cureus. 2022 Mar 16;14(3):e23220. doi: 10.7759/cureus.23220. eCollection 2022 Mar.
Familial essential thrombocythemia is characterized by the inheritance of germline mutations to progeny, thereby increasing the risk for the development of essential thrombocythemia. Here, we present two cases of young women who developed thromboembolic phenomena, one of whom with an ischemic event despite adequate anticoagulation. Through extended mutational testing, both were characterized as having novel mutations in the myeloproliferative leukemia virus (MPL) gene, and both individuals have fathers being treated for essential thrombocythemia. This case provides insight that in familial essential thrombocythemia, there remain uncharacterized mutations in this inherited conditional landscape.
家族性原发性血小板增多症的特征是种系突变遗传给后代，从而增加了原发性血小板增多症发生的风险。在此，我们报告两例年轻女性发生血栓栓塞现象的病例，其中一例尽管进行了充分的抗凝治疗仍发生了缺血事件。通过扩展的突变检测，两人均被鉴定为在骨髓增殖性白血病病毒（MPL）基因中存在新的突变，且两人的父亲均正在接受原发性血小板增多症的治疗。该病例提供了这样的见解，即在家族性原发性血小板增多症中，在这种遗传条件下仍存在未被表征的突变。
