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급성골수성백혈병의 차세대 염기서열 분석을 통한 분자유전학적 위험도 분류

Molecular Risk Stratification using Next-generation Sequencing in Acute Myeloid Leukemia

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초록

Chromosomal abnormalities are an important prognostic factor in cases of acute myeloid leukemia (AML). Molecular mutations have been reported to contribute to the pathogenesis and prognosis of AML. Next-generation sequencing (NGS) has revolutionized the speed and cost of genomic sequencing and enables the parallel analysis of many genes for molecular risk stratification. The molecular mutations currently included in risk stratification at AML diagnosis are c-kit, FLT3-ITD, NPM1, CEBPA (biallelic), RUNX1, ASLX1, and TP53. The importance of screening for mutations has been further emphasized by introducing novel therapeutic targets for molecular mutations, such as FLT3-TKD, IDH1, and IDH2. Molecular mutations are also used to evaluate measurable residual disease during treatment and to select the intensity of the treatment during consolidation and follow-up. Pretreatment leukemic marrow and blood should be stored at a biobank to perform NGS analysis in cases of AML at diagnosis. Samples from various time points during and after treatment should be obtained and stored under appropriate conditions.

Abstract

Chromosomal abnormalities are an important prognostic factor in cases of acute myeloid leukemia (AML). Molecular mutations have been reported to contribute to the pathogenesis and prognosis of AML. Next-generation sequencing (NGS) has revolutionized the speed and cost of genomic sequencing and enables the parallel analysis of many genes for molecular risk stratification. The molecular mutations currently included in risk stratification at AML diagnosis are c-kit, FLT3-ITD, NPM1, CEBPA (biallelic), RUNX1, ASLX1, and TP53. The importance of screening for mutations has been further emphasized by introducing novel therapeutic targets for molecular mutations, such as FLT3-TKD, IDH1, and IDH2. Molecular mutations are also used to evaluate measurable residual disease during treatment and to select the intensity of the treatment during consolidation and follow-up. Pretreatment leukemic marrow and blood should be stored at a biobank to perform NGS analysis in cases of AML at diagnosis. Samples from various time points during and after treatment should be obtained and stored under appropriate conditions.

참고문헌 (49)

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관련 논문AI추천

급성골수성백혈병과 골수이형성증후군 환자를 대상으로 한 NGS 골수성 패널 검사: 단일 상급종합병원에서의 경험김상경, 문선호, 서헌석, 유은형, 이아진, 전창호대한진단검사의학회 · Laboratory Medicine Online2021 · 제11권 제1호Incidences and Prognostic Impact of c-KIT, WT1, CEBPA, and CBL Mutations, and Mutations Associated With Epigenetic Modification in Core Binding Factor Acute Myeloid Leukemia: A Multicenter Study in a Korean PopulationEun Yup Lee, Hawk Kim, Ho Jin Shin, Hyeoung-Joon Kim, Hyun Ji Lee, In-Suk Kim, Jeong-Eun Kang, Jong-Ho Won, Joo Seop Chung, Moo-Kon Song, Sang Hyuk Park, Soo-Mee Bang, Yeo-Kyeoung Kim대한진단검사의학회 · Annals of Laboratory Medicine2015 · 제35권 제3호NUP98 재배열을 동반한 성인 급성골수성백혈병: 특히 동아시아 인구에서 저평가된 질환Kim Namsoo, Nam Hyun-Jun대한진단검사의학회 · Laboratory Medicine Online2025 · 제15권 제4호골수형성이상증후군과 이로부터 진행된 이형성연관변화 급성골수성백혈병의 FLT3-ITD 및 NPM1 변이 연속 측정결과와 이에 따른 임상양상에 관한 분석박찬정, 서을주, 이은혜, 장성수, 정재우, 지현숙대한진단검사의학회 · Laboratory Medicine Online2011 · 제1권 제3호Novel Mutations in CEBPA in Korean Patients with Acute Myeloid Leukemia with a Normal Karyotype기창석, 김동환, 김선희, 김솔잎, 김종원, 김희진, 장미애, 장준호, 정철원대한진단검사의학회 · Annals of Laboratory Medicine2012 · 제32권 제2호Measurable Residual Disease Testing Using Next-Generation Sequencing in Acute Myeloid Leukemia허희진, Kim Seon Young대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제4호

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