골수증식종양 진단의 발전
Advances in the Diagnosis of Myeloproliferative Neoplasms
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초록
골수증식종양(myeloproliferative neoplasms, MPN)은 하나 이상의 골수세포(과립구계, 적혈구계, 거대핵세포, 비만세포)가과도하게 증식하는 클론성 조혈모세포 혈액질환으로, BCRABL1 양성 만성 골수백혈병(chronic myelogenous leukemia), 만성 호중구백혈병(chronic neutrophilic leukemia), 진성적혈구증가증(polycythemia vera), 본태혈소판증가증(essential thrombocythemia), 일차골수섬유증(primary myelofibrosis) 등이 포함되어 있다[1]. 발생 초기에는 조혈기능 증가로 인해 말초혈액혈구와 골수세포충실도의 증가를 보이지만, 단계적으로 진행하여 말기에는 골수섬유화, 비효과조혈(ineffective hematopoiesis) 또는 급성모세포기(acute blast phase)로 진행하여 골수부전에이르게 된다.
Abstract
Philadelphia chromosome-negative classical myeloproliferative neoplasms include polycythemia vera, essential thrombocythemia, and primary myelofibrosis. In recent years, there have been major advances in our understanding of the molecular pathophysiology of these rare subgroups of myeloproliferative neoplasms. The World Health Organization diagnostic criteria were revised in 2008, and incorporated new somatic mutations of JAK2 V617F, found in most patients with polycythemia vera, essential thrombocythemia, or primary myelofibrosis. Subsequently, other mutations (MPL W515 and CALR) were discovered and this led to substantial changes in the diagnosis and treatment guidelines. This article reviews the diagnostic criteria for Philadelphia chromosome-negative classical myeloproliferative neoplasms, and changes in the diagnostic algorithm for clinical practice in Korea.
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