Xu Lin-Wei, Su Yong-Zhong, Tao Hong-Fang
Department of Hematology, The First Affiliated Hospital of Shantou University Medical College, Shantou 515041, Guangdong Province, China.
World J Clin Cases. 2022 Mar 26;10(9):2931-2937. doi: 10.12998/wjcc.v10.i9.2931.
Turner syndrome (TS) with leukemia is a complicated clinical condition. The clinical course and outcome of these patients are poor, so the treatment and prognosis of TS with hematological malignancies deserve our attention.
Here, we report a case of a 20-year-old woman diagnosed with TS, primary myelofibrosis (PMF), cirrhosis, and an ovarian cystic mass. This is the first report on the coexistence of TS and PMF with the and mutations. The patient was diagnosed with cirrhosis of unknown cause, splenomegaly and severe gastroesophageal varices. Additionally, an ovarian cystic mass caused the patient to appear pregnant. The patient was treated with the JAK2 inhibitor-ruxolitinib according to peripheral blood cells, although myelofibrosis was improved, the splenomegaly did not reduce. Moreover, hematemesis and melena occasionally occurred.
Ruxolitinib may clearly reduce splenomegaly. Though myelofibrosis was improved, cirrhosis and splenomegaly in this case continued to worsen. Effective treatment should be discussed.
特纳综合征（TS）合并白血病是一种复杂的临床情况。这些患者的临床病程和预后较差，因此TS合并血液系统恶性肿瘤的治疗和预后值得我们关注。
在此，我们报告一例20岁女性，诊断为TS、原发性骨髓纤维化（PMF）、肝硬化和卵巢囊性肿块。这是首例关于TS与PMF并存且伴有 和 突变的报告。患者被诊断为病因不明的肝硬化、脾肿大和严重的胃食管静脉曲张。此外，卵巢囊性肿块使患者看起来像怀孕。根据外周血细胞情况，患者接受了JAK2抑制剂鲁索替尼治疗，虽然骨髓纤维化有所改善，但脾肿大并未减轻。此外，患者偶尔出现呕血和黑便。
鲁索替尼可能明显减轻脾肿大。虽然骨髓纤维化有所改善，但该病例中的肝硬化和脾肿大仍继续恶化。应讨论有效的治疗方法。
