Afana Mohammad, Abu-Tineh Mohammad, Ellahie Anil, Ismail Omar, Sideeg Deena, Albattah Afaf, Yassin Mohamed A
Department of Oncology, Hematology and Bone Marrow Transplantation (BMT) Section, National Center for Cancer Care and Research, Doha, QAT.
Department of Hematology, National Center for Cancer Care and Research, Doha, QAT.
Cureus. 2023 Jan 10;15(1):e33612. doi: 10.7759/cureus.33612. eCollection 2023 Jan.
Essential thrombocythemia (ET) is one of the classical Philadelphia-negative myeloproliferative neoplasms with different mutations that can be associated with it, like Janus kinase 2 (JAK2), myeloproliferative leukemia protein (MPL), and Calreticulin (CALR) (types 1 and 2). However, there is a lack in the literature concerning other types of CALR mutations and their clinical significance and prognosis. Here we report a 42-year-old male with type 2 diabetes who presented with an inferior ST-elevation myocardial infarction and thrombocytosis. The diagnosis of ET with CALR (neither type 1 nor type 2) was confirmed, which suggests the pathognomonic feature of this mutation.
原发性血小板增多症(ET)是经典的费城染色体阴性骨髓增殖性肿瘤之一,可伴有不同的相关突变,如Janus激酶2(JAK2)、骨髓增殖性白血病蛋白(MPL)和钙网蛋白(CALR)(1型和2型)。然而,关于其他类型的CALR突变及其临床意义和预后,文献报道较少。在此,我们报告一名42岁的2型糖尿病男性患者,其表现为下壁ST段抬高型心肌梗死和血小板增多症。经确诊为伴有CALR(非1型也非2型)突变的ET,这提示了该突变的特征性表现。