혈액종양 진단 검사의 국내 현황 조사(2024)

초록

Background: The importance of diagnostic testing for accurate disease diagnosis has become increasingly prominent with the recent revisions to the international classification for hematologic neoplasms. This survey study aimed to assess the current status of diagnostic tests for hemato- logic neoplasms in domestic medical institutions in Korea. Methods: An online survey was conducted from June 24 to July 8, 2024, targeting domestic medical institutions that perform bone marrow ex- aminations. The survey consisted of common items (16 questions regarding the characteristics of the institution among others) and disease-spe- cific items (52 questions regarding the tests used for diagnosis, such as for chronic myeloid leukemia (CML) and myeloproliferative neoplasms). Results: A total of 49 institutions participated in the survey. For CML diagnosis, nearly all (90-98%) institutions performed tests for BCR ::ABL1 rearrangements. In myeloproliferative neoplasms, a variety of gene mutation tests, including JAK2 V617F and exon 12, CALR , and MPL , were per- formed at a high rate (100%) compared to previous practices. For diagnosing myelodysplastic neoplasm (MDS), a significant number (84%) of in- stitutions conducted tests for many genes recommended by the World Health Organization (WHO) 5th edition and International Consensus Classi- fication (ICC) for hematologic neoplasms. For acute leukemia, as the subcategory classification became more detailed with gene translocations, gene rearrangement tests and expression tests were reported to be in use. For diagnosing bone marrow involvement of lymphoma and plasma cell neoplasms, the utility rate of flow cytometry and gene mutation testing has increased compared to the past. Conclusions: This survey provides fundamental data to facilitate standardization in clinical diagnostic practices. Ongoing efforts are necessary to achieve accurate diagnosis according to the latest classification.

키워드