급성골수성백혈병으로 진행한 JAK2 V617F 양성 만성호중구성백혈병 1예
A Case of Acute Myeloid Leukemia Transformed from JAK2 V617F-Positive Chronic Neutrophilic Leukemia
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초록
만성호중구성백혈병(CNL)은 말초혈액의 호중구 증식, 골수흡인검사에서 세포충실도 증가와 비장비대를 특징으로 하는 골수증식성종양 중 드문 질환이다. JAK2 V617F 변이는 BCR-ABL1 음성인골수증식종양에서 진단과 관련된 유일한 분자유전학적 표지자이지만 만성호중구성백혈병과 같은 드문 골수증식성종양에서는 드물게 보고되고 있다. 이에 저자들은 2008 WHO 기준을 만족하면서 9개월 후 급성골수성백혈병으로 진행하여 사망한 JAK2 V617F 변이를 동반한 만성호중구성백혈병 1예를 경험하였기에 보고하는바이며, JAK2 V617F 변이와 관련한 만성호중구성백혈병의 예후와병인론을 알기 위해서는 더 많은 증례의 축적이 필요할 것이다.
Abstract
Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN) characterized by persistent peripheral blood neutorphilia, bone marrow hypercellularity of neutrophilic granulocyte proliferation and hepatosplenomegaly. Acquired somatic mutation, JAK2 V617F, is the only molecular marker known to have association with classic BCR-ABL1 negative MPNs. However, JAK2 V617F has been detected occasionally in other MPNs such as CNL or other disease entities. We experienced a case of CNL with JAK2 V617F mutation. The patient was diagnosed according to the 2008 WHO classification criteria, and developed AML 9 months after the diagnosis of CNL. The JAK2 V617F was detected in the bone marrow throughout the clinical course. More cases are needed to establish the role of JAK2 V617F in the pathogenesis, prognosis and disease course of CNL.
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