Calreticulin (CALR) is a calcium-binding protein chaperone that may be found throughout the extracellular matrix and membranes of cells. It regulates calcium homeostasis and ensures the appropriate folding of newly generated glycoproteins within the endoplasmic reticulum. A somatic mutation in JAK2, CALR, or MPL is responsible for the great majority of essential thrombocythemia (ET) cases. ET has a diagnostic and prognostic value because of the sort of mutation that causes it. ET patients with the JAK2 V617F mutation had more noticeable leukocytosis, higher hemoglobin levels, and lower platelet levels, but also more thrombotic problems and a higher risk of PV transition. CALR mutations, on the other hand, are linked to a younger age group, males, with lower hemoglobin and leukocyte counts, but higher platelet counts, and a higher risk of myelofibrosis transformation. There are two predominant types of CALR mutations in ET patients. Different CALR point mutations have been identified in recent years, but their involvement in the molecular pathogenesis of MPN, including ET, is still unknown. In this case report, we presented a rare CALR mutation in a patient who was diagnosed with ET and followed up.

钙网蛋白 (CALR) 是一种钙结合蛋白伴侣，可在整个细胞外基质和细胞膜中找到。它调节钙稳态并确保新生成的糖蛋白在内质网中的适当折叠。JAK2、CALR或MPL中的体细胞突变是绝大多数原发性血小板增多症 (ET) 病例的原因。由于导致它的突变类型，ET 具有诊断和预后价值。具有JAK2 V617F 突变的ET 患者有更明显的白细胞增多、更高的血红蛋白水平和更低的血小板水平，但也有更多的血栓形成问题和更高的 PV 转变风险。计算器另一方面，突变与较年轻的男性年龄组有关，他们的血红蛋白和白细胞计数较低，但血小板计数较高，并且骨髓纤维化转化的风险较高。在 ET 患者中有两种主要类型的CALR突变。近年来发现了不同的CALR点突变，但它们在 MPN（包括 ET）分子发病机制中的作用尚不清楚。在本病例报告中，我们介绍了一名被诊断患有 ET 并接受随访的患者的罕见CALR突变。