Ⅰ．造血器腫瘍の新しい分類 WHO分類改訂第4版（2017）に …

1 498 22514 A 21 WHO WHO 1 WHO 4 2017 Myeloproliferative neoplasms MPN Chronic myeloid leukemia CML , BCR ABL1 positive Chronic neutrophilic leukemia CNL Polycythemia vera PV Primary myelofibrosis PMF Prefibrotic/early primary myelofibrosis Overt primary myelofibrosis Essential thrombocythemia ET Chronic eosinophilic leukemia , not otherwise specified NOS MPN, unclassifiableMastocytosis Cutaneous mastocytosis Systemic mastocytosis Mast cell sarcomaMyeloid lymphoid neoplasms with eosinophilia and gene rearrangement Myeloid/lymphoid neoplasms with PDGFRA rearrangement Myeloid/lymphoid neoplasms with PDGFRB rearrangement Myeloid/lymphoid neoplasms with FGFR1 rearrangement Provisional entity Myeloid/lymphoid neoplasms with PCM1 JAK2 Myelodysplastic myeloproliferative neoplasms MDS MPN Chronic myelomonocytic leukemia CMML Atypical chronic myeloid leukemia

2 ACML , BCR ABL1 negative Juvenile myelomonocytic leukemia JMML MDS/MPN with ring sideroblasts and thrombocytosis MDS/MPN RS T MDS/MPN, unclassifiableMyelodysplastic syndromes MDS MDS with single lineage dysplasia MDS with ring sideroblasts MDS RS MDS RS and single lineage dysplasia MDS RS and multilineage dysplasia MDS with multilineage dysplasia MDS with excess blasts MDS with isolated del 5q MDS, unclassifiable Provisional entity Refractory cytopenia of childhoodI WHO 4 2017 498 22514I 3 3 2001 1 4 2008 2 2016 4 3 2017 1 Myeloid neoplasms with germ line predispositionAcute myeloid leukemia AML and related precursor neoplasms AML with recurrent genetic abnormalities AML with t 8 21 q22 RUNX1 RUNX1T1 AML with inv 16 or t 16 16 q22

3 CBFB MYH11 acute promyelocytic leukemia APL with PML RARA AML with t 9 11 KMT2A MLLT3 AML with t 6 9 p23 DEK NUP214 AML with inv 3 or t 3 3 GATA2, MECOM AML megakaryoblastic with t 1 22 RBM15 MKL1 Provisional entity AML with BCR ABL1 AML with mutated NPM1 AML with biallelic mutation of CEBPA Provisional entity AML with mutated RUNX1 AML with myelodysplasia related changes Therapy related myeloid neoplasms acute myeloid leukemia AML , NOS AML with minimal differentiation AML without maturation AML with maturation acute myelomonocytic leukemia acute monoblastic and monocytic leukemia Pure erythroid leukemia acute megakaryoblastic leukemia acute basophilic leukemia acute panmyelosis with myelofibrosis Myeloid sarcoma Myeloid proliferations associated with Down syndrome Transient abnormal myelopoiesis TAM associated with Down syndrome Myeloid leukemia associated with Down syndromeBlastic plasmacytoid dendritic cell

4 NeoplasmAcute leukemias of ambiguous lineage acute undifferentiated leukemia Mixed phenotype acute leukemia MPAL with t 9 22 BCR ABL1 MPAL with t v KMT2A rearranged MPAL, B/myeloid, NOS MPAL, T/myeloid, NOS MPAL, NOS, rare types acute leukemias of ambiguous lineage, NOS Swerdlow SH, et al Editors . WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon IARC Press 20174 498 225144I 4 1 4 2008 all nucleated cells ANC 50 non erythroid cells NEC 20 erythroid/myeloid type NEC 4 2017 NEC ANC

5 MDS 2 B Myeloproliferative neoplasms MPN 4 2017 MPN 4 2008 chronic myeloid leukemia CML tyrosine kinase inhibitor TKI TKI MPN 4 2008 JAK2 MPL CALR ET PMF 2 50 / 50 20 AML AML50 20 AML 80 30 20 M6b 50 20 20 20 50 20 20 20 WHO 4 Swerdlow SH, et al Editors.

6 WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon IARC Press 20174 498 22514I 5 polycythemia vera PV masked PV 3 essential thrombocythemia ET pri-mary myelofibrosis PMF PMF pre PMF PMF overt classic PMF pre PMF ET MPN chronic neutrophilic leukemia CNL

7 CSF3R 4 2008 MPN 1 4 2017 3 KIT D816V / 4 2008 PDGFRA PDGFRB FGFR1 4 2017 PCM1 JAK2 JAK MDS 1 MPN 4 2008 chronic myelomonocytic leukemia CMML atypical CML aCML juvenile myelomonocytic leukemia JMML MDS/MPN MDS/MPN U 4 MDS/MPN U MDS/MPN MDS/MPN with ring sideroblasts and thrombocytosis MDS/MPN RS T MDS/MPN CMML SRSF2 TET2 aCML SETBP1 ETNK1 JMML RAS NF1 PTPN11 MDS/MPN RS T SF3B1 JAK2 C Mastocytosis / Myeloid/lymphoid neoplasms

8 With eosinophilia and gene rearrangement D / Myelodysplastic/myeloproliferative neo-plasms MDS/MPN 498 225146I E Myelodysplastic syndromes MDS MDS 4 2017 refractory anemia refractory cytopenia MDS with 10 20 30 low blast count acute myeloid leukemia AML AML ring sideroblasts RS 15 RS SF3B1 RS 5 RS MDS with isolated del 5q 1 7/7q MDS U MDS MDS U MDS MDS 4 2017 MDS CEBPA DDX41 RUNX1 ANKRD26 ETV6 GATA2 Fanconi Schwachman Diamond AML

9 4 2017 CEBPA NPM1 AML CEBPA AML NPM1 FLT3 ITD AML BCR ABL1 AML RUNX1 AML t 9 11 KMT2A MLLT3 MLL KMT2A inv 3 t 3 3 GATA2 MECOM GATA2 MECOM GATA2 MECOM