骨髓增殖性肿瘤(MPN)是以由于遗传突变导致的骨髓细胞异常产生为特征的血液疾病。自2013年以来,研究人员已经确定了钙网蛋白(CALR)基因的体细胞突变,主要是插入或删除,在两个费城染色体阴性的MPN中;原发性血小板增多症(ET)和原发性骨髓纤维化(PMF),偶尔出现在慢性粒单核细胞白血病(CMML)中。本研究旨在确定各种类型的CALR突变及其对CALR阳性MPN患者临床表现和预后的影响。
■进行单中心回顾性研究。数据是从预先存在的记录中收集的。该研究是针对费城阴性MPN患者进行的,这些患者正在NCCCR(国家癌症护理和研究中心)进行随访,以评估疾病治疗的临床表现和结果。所有患者包括,2008年1月1日至2021年11月20日在我们的中心进行了跟踪。
■共有50名CALR阳性MPN患者接受了随访,中位随访时间为3年(1-11)。该队列包括31例(62%)ET患者,10例(20%)PMF患者,和9(18%)患者的纤维化前骨髓纤维化(前MF)。该研究涉及38名(76%)男性和12名(24%)女性患者。在40岁之前诊断出16例(32%)患者,在40至60岁之间诊断出24例(48%)患者;在60岁之后诊断出10例(20%)患者。分子分析显示24例(48%)CALR1型患者,21例(42%)CALR2型患者和5例(10%)无1型,无2型CALR突变患者。2例患者有双重突变;1例(2%)无1型,无2型CALR和JAK2突变,1(2%)具有CALR1型和MPL突变。血栓事件为3例(6%)静脉血栓栓塞,3(6%)腹静脉血栓形成,2(4%)中风,和4(8%)缺血性心脏事件。只有4例(8%)患者进展为骨髓纤维化并携带CALR1突变,1例(2%)患者进展为具有CALR2突变的AML。
■数据显示,年轻人的CALR阳性MPN诊断显着上升,强调需要更好的评估工具来改善疾病管理和减少并发症。
UNASSIGNED: Myeloproliferative neoplasms (MPNs) are hematological disorders characterized by abnormal production of myeloid cells due to genetic mutations. Since 2013, researchers have identified somatic mutations in the
Calreticulin (CALR) gene, primarily insertions or deletions, in two Philadelphia chromosome-negative MPNs; essential thrombocytosis (ET) and primary myelofibrosis (PMF), and occasionally in chronic myelomonocytic leukemia (CMML). This study aims to identify the various types of CALR mutations and their impact on CALR-positive MPN patients\' clinical manifestations and outcomes.
UNASSIGNED: A single-center retrospective study was conducted. The data was collected from pre-existing records. The study was carried out on Philadelphia-negative MPN patients who were being followed up on at the NCCCR (National Center for Cancer Care and Research) to assess the clinical manifestation and outcome of disease treatment. All patients included, were followed in our center between January 1, 2008, and November 20, 2021.
UNASSIGNED: A total of 50 patients with CALR-positive MPN were reviewed with a median follow-up of three years (1-11). This cohort included 31 (62%) patients with ET, 10 (20%) patients with PMF, and 9 (18%) patients with prefibrotic myelofibrosis (pre-MF). The study involved 38 (76%) male and 12 (24%) female patients. There were 16 (32%) patients diagnosed before the age of 40, 24 (48%) patients diagnosed between the ages of 40 and 60; and 10 (20%) patients diagnosed after the age of 60. Molecular analysis showed 24 (48%) patients with CALR type 1, 21 (42%) patients with CALR type 2, and 5 (10%) patients with none Type 1, none Type 2 CALR mutations. Two patients have double mutations; 1(2%) with none Type 1, none Type 2 CALR and JAK2 mutations, and 1(2%) with CALR type 1 and MPL mutations. The thrombotic events were 3 (6%) venous thromboembolisms, 3 (6%) abdominal veins thromboses, 2 (4%) strokes, and 4 (8%) ischemic cardiac events. Only 4 (8%) patients progressed to Myelofibrosis and were carrying CALR 1 mutations, and 1 (2%) patient progressed to AML with CALR 2 mutation.
UNASSIGNED: The data shows a significant rise in CALR-positive MPN diagnoses in younger people, emphasizing the need for a better assessment tool to improve disease management and reduce complications.