骨髄異形成症候群診療の参照ガイド 平成25年度改訂版

1 25 H25 26 2014 2 1 .. 3 2 .. 3 3 .. 3 1 .. 3 2 .. 5 3 .. 8 1 FAB .. 8 2 WHO 4 .. 8 3 WHO 4 MDS .. 9 4 FAB WHO 4 .. 14 4 .. 14 4 .. 15 5 .. 17 6 .. 17 7 .. 17 1 .. 17 2 .. 18 3) IPSS .. 19 4 .. 20 8 .. 21 1 International Prognostic Scoring System (IPSS) .. 21 2 IPSS .. 23 (1) .. 23 (2) .. 23 (3) .. 23 (4).

2 23 (5) comorbidity index (CI) .. 23 3 .. 24 (1) WHO classification-based prognostic scoring system (WPSS) .. 24 (2) M. D. Anderson .. 25 (3) Revised International Prognostic Scoring System (IPSS-R) .. 26 9 .. 28 1 .. 28 2 .. 28 1 .. 28 2 .. 28 3 ( 20) .. 29 4 .. 31 10 .. 33 .. 39 3 1 myelodysplastic syndrome syndromes MDS 1982 French-American-British FAB 1 MDS MDS 2001 World Health Organization WHO 3 2 FAB 2008 WHO 4 3 FAB WHO MDS syndrome myelodysplastic syndromes FAB IPSS 4 WHO WPSS 5 2 MDS acute myeloid leukemia AML MDS AML FAB 30 WHO 20 1.

3 2 AML WHO AML with myelodysplasia-related changes myeloproliferative neoplasm MPN MDS WHO 4 / myelodysplastic/myeloproliferative neoplasms MDS/MPN MDS aplastic anemia AA 6 AA 1 1 MDS 20 MDS/MPN 20 MPN 20 AML 20 AA 5 3 1 MDS AML MPN MDS/MPN AA 1982 French-American-British FAB MDS 1 MDS AML MDS MDS 2001 WHO 3 2 WHO 3 MDS 7 4 FAB WHO 3 2008 4 3 MDS 8 FAB WHO 3 /4 MDS, AML MPN MDS/MPN MDS MDS FAB WHO 3 Working Conference on MDS 2006 9 2 2 22 1.

4 2. 1 10g/dL , 1,800/ L , 10 / L 3. A. FAB 1 , 2) WHO 1) 4) 1 30 WHO 20% 2 ( 3) 3 1 10 /L 4 t(8;21)(q22 q22), t(15;17)(q22;q12), inv(16)(p13;q22) t(16;16)(p13;q22) B. 1 ( 4) ( 5) Low 2 fluorescence in situ hybridization (FISH) ( 6) C. 1 RAS EVI1 p53 p15 2 CGH (comparative genomic hybridization) single nucleotide polymorphisms arrays (SNP-A)) 3) 1. 2. 3. A 1) 2) (WHO 1) 4) B 1) WHO 1 2 A 1), 2) (WHO 1) 4) B C idiopathic cytopenia of undetermined significance ICUS 6 WHO WHO 4 ( ) ( ) FAB 30% WHO 20% FAB CMML WHO ( ) WHO 4 ( ) 5 3 B12/ HIV Anemia of chronic disorders ( )

5 Congenital dyserythropoietic anemia Idiopathic cytopenia of undetermined significance 2 HIV SLE 3 MDS idiopathic cytopenia s of undetermined significance ICUS 9 6 4 [10] [11] A Granulocytic series hypo-segmented mature neutrophils (Pelger) degranulation (a- or hypogranular neutrophils: Hypo-Gr) Megakaryocytic series micromegakaryocytes (mMgk) Erythroid series ring sideroblasts (RS) B Granulocytic series small size or unusually large size irregular hypersegmentation pseudo Chediak-Higashi granule Chediak-Higashi Auer rod Megakaryocytic series non-lobulated nuclei multiple, widely-separated nuclei Erythroid series nucleus budding internuclear bridging ( ) karyorrhexis multinuclearity hyperlobation megaloblastoid change cytoplasm vacuolization PAS positive PAS 7 5 [10] [11] High High 1 2 1.

6 Pelger 10% Hypo-Gr 10% mMgk 10% 2. RS 15% Intermediate 2 3 A B 10% Low 1 A B 10% Minimal 1 3 A B =1 9% Pelger : hypo-segmented mature neutrophils Hypo-Gr :degranulation (a- or hypogranular neutrophils) mMgk : micromegakaryocytes RS: ring sideroblasts 6 [8] MDS t-MDS MDS t-MDS +8* 10% t(11;16)(q23; )3% -7 or del(7q) 10% 50% t(3;21)( ; )2% -5 or del(5q) 10% 40% t(1;3)( ; )1% del(20q)* 5-8% t(2;11)(p21;q23)1% -Y* 5% inv(3)( )1% i(17q) or t(17p) 3-5% t(6;9)(p23;p34)1% -13 or del(13q)** 3% del(11q) 3% del(12p) or t(12p) 3% del(9q) 1-2% idic(X)(q13)

7 1-2% * **WHO 4 [8] MDS 13q- [12] 8 3 1 FAB MDS FAB FAB MDS Auer refractory anemia RA refractory anemia with ring sideroblasts RARS refractory anemia with excess blasts RAEB RAEB RAEB in transformation RAEB-t chronic myelomonocytic leukemia CMML 7 FAB 30 MDS 30 AML all marrow nucleated cells ANC 50 non-erythroid cells NEC 30 AML-M6 30 MDS ANC NEC 7 FAB RA 1,000/ L 1 5 15 RARS RA 15 RAEB 1,000/ L 5 5 19 Auer Auer RAEB-t RAEB-t 5 20 29 Auer CMML 1.

8 000/ L 5 20 7 FAB [1] RA 5 1 109/l 15 RARS 5 1 109/l 15 RAEB 5 5 19 1 109/l Auer - RAEB-t 5 20 29 Auer Auer CMML 5 20 1 109/l (refractory anemia, RA) (refractory anemia with ringed sideroblasts , RARS) (refractory anemia with excess blasts, RAEB) (refractory anemia with excess blasts in transformation, RAEB-t) (chronic myelomonocytic leukemia, CMML) * 2 WHO 4 WHO 3 10 20 AML CMML / myelodysplastic / myeloproliferative diseases MDS/MPD FAB WHO 3 RA RARS refractory cytopenia with multilineage dysplasia RCMD refractory cytopenia with multilineage dysplasia and ringed sideroblasts RCMD-RS RAEB RAEB-1 9 RAEB-2 myelodysplastic syndrome unclassifiable MDS-U del 5q myelodysplastic syndrome associated with isolated del 5q chromosome abnormality 5q syndrome t 8 21 q22 q22 RUNX1-RUNXT1 t 15 17 q22 q12 PM-/RARa inv 16 p13 q22 t 16 16 p13 q22 CBFB-MYH11 AML WHO 4 WHO 3 WHO 4 ringed sideroblasts ring

9 Sideroblasts myelodysplastic syndrome associated with isolated del 5q chromosome abnormality 5q syndrome myelodysplastic syndrome associated with isolated del 5q MDS with isolated del 5q 6 11 WHO 4 MDS 8 8 a refractory cytopenia with unilineage dysplasia RCUD RA refractory neutropenia RN refractory thrombocytopenia RT b WHO 3 RCMD RCMD-RS WHO 4 RCMD c 1 5 MDS MDS 6 MDS-U RCUD RCMD 1 RCUD MDS-U d childhood myelodysplastic syndrome refractory cytopenia of childhood RCC 4 WHO 3 WHO 4 3 WHO 4 MDS a. CMML CMML MDS FAB MDS WHO 4 CMML / myelodysplastic/ myeloproliferative neoplasms MDS/MPN WHO 4 a 1000/ L b BCR-ABL1 c PDGFRA PDGFRB d 20 e 1 3 CMML CMML CMML-1 5 10 CMML-2 5 19 10 19 Auer b.

10 RAEB-t WHO 3 20 AML WHO 4 FAB RAEB-t 20 WHO 4 AML Auer RAEB-t WHO 3 / 4 RAEB-2 c. RCUD WHO 4 MDS RA RN RT 10 2 1 MDS-U anemia of chronic disorders ACD idiopathic cytopenia s of undetermined significance ICUS 8 RCUD 6 13, 14 d. RCMD FAB RA RARS 15 18 WHO 3 FAB RA 2 10 RCMD FAB RARS 2 10 RCMD-RS RCMD RCMD-RS 2 WHO 4 RCMD RCMD-RS RCMD MDS SF3B1 10g/dL 1,800/ L 10 / L MDS RCMD 8 7 del 7q 5 del 5q del 20q 50 RCMD 3 RCMD RCMD-RS WHO 3 RA/RARS 19 WHO 3 WHO 4 10 10 WHO 3 19 40 20 10 WHO 4 e.