골수이형성증후군과 급성골수성백혈병의 진단 및 재분류: 2016년 WHO 4판 분류법과 2022년 WHO 5판/ICC 분류법의 비교
Diagnosis and Reclassification of Myelodysplastic Syndromes and Acute Myeloid Leukemia: Comparison Between the 2016 WHO 4th and 2022 WHO 5th/ICC Classifications
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초록
배경: AML, MDS의 새로운 분류법을 포함한 혈액종양 전체에 걸친 새로이 개정된 WHO 5판 및 ICC 재분류법이 2022년에 도입되었다. 본 연구에서는 2016년 WHO 4판 분류법과 WHO 5차/ICC 분류법을 기준으로 하였을 때 MDS와 AML의 진단 및 재분류 차이를 비교, 분석하였다. 방법: 2019년 4월부터 2023년 6월까지 울산대학교병원에서 WHO 4판 분류법에 따라 MDS, AML로 진단받은 환자 246명을 대상으로 하였다. 이들을 대상으로 WHO 5판, ICC 분류법을 적용하여 환자의 진단을 재분류한 후 그 차이를 후향적으로 비교, 분석하였다. 결과: WHO 4판 분류법에 의해 MDS로 진단된 96명의 환자 중 5명(5.2%)의 환자가 WHO 5판 또는 ICC 분류법에 의해 AML로 재분류되었고, 이들은 동반된 세포 및 분자유전학적 이상 소견으로 인해 WHO 5판 분류법에서는 모두 AML로 진단이 변경되었으며, ICC 분류법에서는 2명의 MDS with EB-2 환자만 AML로 진단이 변경되었다. WHO 4판 분류법을 적용하였을 때 MDS로 진단된 환자 중 28.6%, 17.0%의 환자가 각각 WHO 5판 분류법, ICC 분류법을 적용하였을 때 MDS 진단의 세부 분류가 변경되었으며, 대부분 개정된 분류법에서 MDS 진단의 세부 분류에 SF3B1, biallelic TP53 mutation 등의 분자유전학적 검사 결과가 추가되어 발생하였고, 일부 환자는 WHO 5판 분류법에서 MDS-h, MDS-f 등 형태학적 소견이 진단에 추가되어서 발생하였다. 결론: MDS 및 AML의 진단에 WHO 5판 및 ICC 분류법을 적용할 때, 골수생검조직의 형태학적 소견, 세포 및 분자유전학적 검사의 TAT 단축이 진단 정확도 향상에 중요한 역할을 할 것으로 사료된다.
Abstract
Background: In 2022, the World Health Organization (WHO) 5th and International Consensus Classification (ICC) classification of hematologic malignancies including acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) was introduced. This study contrasted the diagnosis and reclassification of MDS and AML between the 2016 WHO 4th and WHO 5th/ICC classifications. Methods: From April 2019 to June 2023, 246 MDS and AML patients diagnosed by the WHO 4th classification at the Ulsan University Hospital were included in this study. These patients were reclassified by the WHO 5th and ICC classification, and the differences were retrospectively compared and analyzed. Results: Among 96 MDS patients diagnosed by the WHO 4th classification, 5 (5.2%) were reclassified to AML using the WHO 5th or ICC due to concomitant cytogenetic and molecular abnormalities. Only 2 patients initially diagnosed with MDS with excess blasts-2 (MDS-EB-2) were later diagnosed with AML by ICC classification. When the WHO 5th and ICC classifications were applied, 28.6% and 17.0%, respectively, of MDS patients diagnosed by the WHO 4th classification changed MDS subtypes, mostly due to the presence of molecular abnormalities such as SF3B1 and biallelic TP53 mutation at diagnosis. The MDS subtypes of certain patients also changed when the WHO 5th classification were applied due to the addition of the MDS-hypoplastic and MDS-fibrosis categories. Conclusions: When applying the WHO 5th and ICC classifications for the diagnosis of MDS and AML, morphologic findings of bone marrow biopsy and reduction of turnaround time in cytogenetic and molecular genetic tests would be crucial in improving diagnostic accuracy.
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