CALR 突变负担与原发性血小板增多症的疾病结局。
CALR mutation burden in essential thrombocythemia and disease outcome.
机构信息
Department of Experimental and Clinical Medicine, Center of Research and Innovation of Myeloproliferative Neoplasms, Division of Hematology, Azienda Ospedaliera Universitaria Careggi, Florence, Italy.
University of Montreal, Montreal, QC, Canada.
出版信息
Blood. 2024 Mar 28;143(13):1310-1314. doi: 10.1182/blood.2023023428.
PMID:38252902
Abstract
Among 281 patients with essential thrombocythemia and calreticulin (CALR) mutation, we found a variant allele frequency of ≥60% to be associated with significantly shortened myelofibrosis-free survival, mostly apparent with CALR type-1 and CALR type-indeterminate mutations.
摘要
在 281 例携带钙网织蛋白（CALR）突变的原发性血小板增多症患者中，我们发现等位基因变异频率≥60%与骨髓纤维化无进展生存期显著缩短相关，这种相关性在 CALR 1 型和 CALR 不确定型突变中表现得更为明显。
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