臨床上未被報導過的CALR基因變異點位

Identification of Previously Unreported Mutations in CALR Gene in Clinical

此案例為一名55歲的女性病患，根據實驗室血液檢查結果顯示有輕微貧血，白血球及血小板數值增高；血球分類：顯示周邊血中具有不成熟的血球細胞。骨髓抹片鏡檢結果顯示：巨核細胞增加且分化異常，有纖維化的情況，懷疑為MPN, Myeloproliferative neoplas ms (MPN)。先服用Agrylin控制血小板產量，並進一步開立NGS MPN panel, Next-generation sequenc ing (NGS)的Myeloproliferative Neoplasm Panel (MPN Panel)檢測相關基因是否突變，發現該病患具有CALR基因突變，且為未被報導過的新的突變點位。

A 55-year-old female patient presented with mild anemia , leukocytosis, and thrombocytosis. Peripheral blood examination showed immature blood cells, and bone m arrow smears suggested megakaryocytic hyperplasia and Grade II fibrosis is noted, with a suspected diagnosis of MPN, Myeloproliferative neoplasms (MPN). The patient was treated with Agrylin to control platelets and underwent NGS MPN panel, Next-generation sequencing Myeloproliferative Neoplasm Panel testing, which revealed CALR gene mutations that were not reported before.