혈액종양의 세계보건기구 분류에 근거한 급성골수성백혈병의 진단적 접근
Diagnostic Approach for Acute Myeloid Leukemia Based on the World Health Organization Classification of Hematologic Neoplasms
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Acute myeloid leukemias (AMLs) are heterogeneous hematologic neoplasms characterized by myeloblast or promyelocyte proliferation without normal differentiation. The World Health Organization (WHO) classifies AMLs on the basis of chromosomal and genetic aberrations, with different prognoses for each subtype. Therefore, accurate diagnosis and classification of AMLs is critical for timely and appropriate treatment. Initial diagnostic workup includes morphologic assessment of the bone marrow aspirate and trephine biopsies, immunophenotyping using flow cytometry or immunohistochemistry stains, chromosomal analysis using the G-banding technique or fluorescence in situ hybridization, and mutation analysis using polymerase chain reaction, direct sequencing, or next-generation sequencing. The present study provides an algorithm for AML diagnosis and classification based on the WHO criteria and describes different clinicopathological stages of the workup.
Abstract
Acute myeloid leukemias (AMLs) are heterogeneous hematologic neoplasms characterized by myeloblast or promyelocyte proliferation without normal differentiation. The World Health Organization (WHO) classifies AMLs on the basis of chromosomal and genetic aberrations, with different prognoses for each subtype. Therefore, accurate diagnosis and classification of AMLs is critical for timely and appropriate treatment. Initial diagnostic workup includes morphologic assessment of the bone marrow aspirate and trephine biopsies, immunophenotyping using flow cytometry or immunohistochemistry stains, chromosomal analysis using the G-banding technique or fluorescence in situ hybridization, and mutation analysis using polymerase chain reaction, direct sequencing, or next-generation sequencing. The present study provides an algorithm for AML diagnosis and classification based on the WHO criteria and describes different clinicopathological stages of the workup.
참고문헌 (34)
- Song X, "Incidence, survival, and risk factors for adults with acute myeloid leukemia not otherwise specified and acute myeloid leukemia with recurrent genetic abnormalities: analysis of the surveillance, epidemiology, and end results (SEER) database, 2001-2013", Acta Haematol, 139, pp.115~127 (2018)
- Newell LF, "Advances in acute myeloid leukemia", BMJ, 375, pp.n2026~ (2021)
- "Annual report of cancer statistics in Korea in 2019" (2021)[URL]
- de Haas V, "Initial diagnostic work-up of acute leukemia: ASCO clinical practice guideline endorsement of the College of American Pathologists and American Society of Hematology Guideline", J Clin Oncol, 37, pp.239~253 (2019)
- Tallman MS, "Acute myeloid leukemia, version 3.2019, NCCN clinical practice guidelines in oncology", J Natl Compr Canc Netw, 17, pp.721~749 (2019)
- Arber DA, "The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia", Blood, 127, pp.2391~2405 (2016)
- Arber DA, "The 2016 WHO classification of acute myeloid leukemia : what the practicing clinician needs to know", Semin Hematol, 56, pp.90~95 (2019)
- Swerdlow SH, "WHO classification of tumours of haematopoietic and lymphoid tissues" (2017), IARC
- Weinberg OK, "Reproducibility and prognostic significance of morphologic dysplasia in de novo acute myeloid leukemia", Mod Pathol, 28, pp.965~976 (2015)
- Dang H, "CD34 expression predicts an adverse outcome in patients with NPM1-positive acute myeloid leukemia", Hum Pathol, 44, pp.2038~2046 (2013)
- Falini B, "Immunohistochemistry predicts nucleophosmin(NPM)mutations in acute myeloid leukemia", Blood, 108, pp.1999~2005 (2006)
- Döhner H, "Diagnosis and management of AML in adults : 2017 ELN recommendations from an international expert panel", Blood, 129, pp.424~447 (2017)
- Park JH, "Early death rate in acute promyelocytic leukemia remains high despite all-trans retinoic acid", Blood, 118, pp.1248~1254 (2011)
- Papaemmanuil E, "Genomic classification and prognosis in acute myeloid leukemia", N Engl J Med, 374, pp.2209~2221 (2016)
- Dolnik A, "Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing", Blood, 120, pp.e83~e92 (2012)
- Medinger M, "Acute myeloid leukaemia genomics", Br J Haematol, 179, pp.530~542 (2017)
- Levis M, "Midostaurin approved for FLT3-mutated AML", Blood, 129, pp.3403~3406 (2017)
- Levis M, "Gilteritinib : potent targeting of FLT3 mutations in AML", Blood Adv, 4, pp.1178~1191 (2020)
- Lavallée VP, "Chemo-genomic interrogation of CEBPA mutated AML reveals recurrent CSF3R mutations and subgroup sensitivity to JAK inhibitors", Blood, 127, pp.3054~3061 (2016)
- Cerchione C, "IDH1", IDH2 inhibition in acute myeloid leukemia, 2021, pp.11, 639387~
- Bewersdorf JP, "Translating recent advances in the pathogenesis of acute myeloid leukemia to the clinic", Genes Dev, 36, pp.259~277 (2022)
- Polprasert C, "Inherited and somatic defects in DDX41 in myeloid neoplasms", Cancer Cell, 27, pp.658~670 (2015)
- Sébert M, "Germline DDX41 mutations define a significant entity within adult MDS", AML patients, 2019, pp.134, 1441~1444
- Choi EJ, "Unique ethnic features of DDX41 mutations in patients with idiopathic cytopenia of undetermined significance, myelodysplastic syndrome, or acute myeloid leukemia", Haematologica, 107, pp.510~518 (2022)
- Pollyea DA, "NCCN guidelines insights : acute myeloid leukemia, version 2. 2021", J Natl Compr Canc Netw, 19, pp.16~27 (2021)
- "NCCN clinical practice guidelines in oncology (NCCN Guidelines®)acute myeloid leukemia version 2.2022" (2022)[URL]
- Bill M, "Mutational landscape and clinical outcome of patients with de novo acute myeloid leukemia and rearrangements involving 11q23", KMT2A, 2020, pp.117, 26340~26346
- Gröschel S, "Mutational spectrum of myeloid malignancies with inv(3)", t(3;3) reveals a predominant involvement of RAS, Blood, pp.2015, 125[DOI]
- Orsmark-Pietras C, "Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study", Genes Chromosomes Cancer, 60, pp.426~433 (2021)
- Mason EF, "Blast phenotype and comutations in acute myeloid leukemia with mutated NPM1 influence disease biology and outcome", Blood Adv, 3, pp.3322~3332 (2019)
- Wilhelmson AS, "CCAAT enhancer binding protein alpha(CEBPA)biallelic acute myeloid leukaemia : cooperating lesions, molecular mechanisms and clinical relevance", Br J Haematol, 190, pp.495~507 (2020)
- Gaidzik VI, "RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features", Leukemia, 30, pp.2160~2168 (2016)
- Gao Y, "Distinct mutation landscapes between acute myeloid leukemia with myelodysplasia-related changes and de novo acute myeloid leukemia", Am J Clin Pathol, 157, pp.691~700 (2022)
- McNerney ME, "Therapy-related myeloid neoplasms : when genetics and environment collide", Nat Rev Cancer, 17, pp.513~527 (2017)
