진단초기 만성호산구백혈병으로 오진한 호산구증가증과 복합핵형을 나타낸 역형성큰세포림프종
Anaplastic Large Cell Lymphoma with Massive Eosinophilia and Complex Karyotype Initially Misdiagnosed as Chronic Eosinophilic Leukemia
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과다한 호산구 증가증과 함께 복합핵형의 관찰로 인해 진단 초기에는 만성 호산구백혈병으로 생각하였지만 최종적으로는 역형성큰세포림프종으로 밝혀진 증례를 경험하였기에 보고하고자 한다. 진단 초기에 호산구 증가가 보인 골수에서 관찰된 복합핵형이 이후 역형성큰세포림프종이 골수를 침범한 것을 확인했을 때에도동일하게 관찰되었다. 중기세포에서 관찰된 복합핵형 결과와는 달리, 간기세포를 이용한 형광제자리부합법에서는 진단 초기에는 이상 소견이 관찰되지 않았다. 하지만 질병이 진행함에 따라 간기세포 형광제자리부합법에서 복합핵형에 대응하는 비정상적인 결과를 얻을 수 있었다. 이러한 결과를 통하여 초기 진단 당시 나타난복합핵형이 대량의 호산구에 의해서가 아닌 현미경으로는 관찰할수 없었던 소수의 높은 유사 분열 능력을 가진 림프종 세포에서 유래되었음을 알 수 있었다. 따라서, 이러한 분자유전학적인 차이를확인함으로써 본 증례가 만성호산구백혈병이 아닌 이차성 호산구증가증이 있는 역형성큰세포림프종 환자임을 진단할 수 있었다.
Abstract
We report a patient with massive eosinophilia and a complex karyotype that was initially misdiagnosed as chronic eosinophilic leukemia (CEL), but later diagnosed as anaplastic large cell lymphoma (ALCL) masked by massive eosinophilia. The complex karyotype observed at initial diagnosis remained unchanged later, after the evidence of bone marrow involvement of ALCL was obtained. At diagnosis, genetic aberrations corresponding to metaphase cytogenetics were not identified by interphase fluorescence in situ hybridization, although abnormal results were noted at follow-up. Together, these observations indicate that the complex karyotype at initial work-up has been derived from a low proportion of lymphoma cells with high mitotic ability that were not identified by microscopy, rather than from massive eosinophils. These findings suggest that our patient had ALCL with secondary eosinophilia rather than CEL since initial diagnosis.
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