Atlas of Genetics and Cytogenetics in Oncology and Haematology
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International Classification of Diseases (ICD-O-3]
Morphological codes
998 Myelodysplastic syndrome (C42.1)
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9980/3
Refractory anemia
del(7)(p11-15) solely
dup (11q) in myeloid malignancies
i(X)(p10) in female patients
-20 or monosomy 20
Refractory anemia (RA)
der(2)t(1;2)(q12-21;q37)
der(3)t(3;3)(p25-26;q12-21)
Refractory anemia without sideroblasts
9982/3
Refractory anemia with sideroblasts
i(7)(q10) in myeloid malignancies
i(X)(p10) in female patients
Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)
-20 or monosomy 20
Myelodysplastic/myeloproliferative neoplasms
Refractory anemia with ringed sideroblasts (RARS)
t(1;3)(p36;q21) RPN1/PRDM16
der(21)t(1;21)(q11-12;p11-13) and der(21)t(1;21)(q21-32;p11-13)
Refractory anemia with ringed sideroblasts
RARS
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
9983/3
Refractory anemia with excess blasts
del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances
del(7)(p11-15) solely
dic(7;12)(p10-p12;p11-p13)
dup (11q) in myeloid malignancies
dup(1)(q11-q44) in myeloid malignancies
i(4p) in myeloid malignancies
i(7)(q10) in myeloid malignancies
inv(11)(p15q23) NUP98/KMT2A
i(22)(q10) in myeloid malignancies
i(X)(p10) in female patients
-20 or monosomy 20
Myelodysplastic syndrome with excess blasts
r(8)
Refractory anemia with excess blasts (RAEB) in 2003
t(1;3)(p36;q21) RPN1/PRDM16
t(1;5)(q21;q32) PDE4DIP/PDGFRB::t(1;5)(q21-23;q32) TPM3/PDGFRB::t(1;5)(q21-23;q31-33)
der(21)t(1;21)(q11-12;p11-13) and der(21)t(1;21)(q21-32;p11-13)
der(4)t(1;4)(q11-32;q34-35)
t(2;11)(p21;q23) without KMT2A (MLL) rearrangement
RAEB
RAEB I
RAEB II
9984/3
Refractory anemia with excess blasts in transformation [obs]
RAEB-T
9985/3
Refractory cytopenia with multilineage dysplasia
dup(1)(q11-q44) in myeloid malignancies
-20 or monosomy 20
t(2;11)(p21;q24) MIR125B1/?
Refractory cytopenia of childhood
9986/3
Myelodysplastic syndrome with 5q deletion (5q-) syndrome
del (5q) solely in Myelodysplastic syndrome
Myelodysplastic syndrome with isolated del (5q)
9987/3
Therapy-related myelodysplastic syndrome, NOS
Therapy-related myelodysplastic syndrome, alkylating agent related
Therapy-related myelodysplastic syndrome, epipodophyllotoxin-related
9989/3
Myelodysplastic syndrome, NOS
Atypical Chronic Myeloid Leukemia (aCML)
Childhood myelodysplastic syndromes
Classification of myelodysplastic syndromes 2015
Classification of myelodysplasic syndromes 1999
Chronic Myelomonocytic Leukemia (CMML)
del(13q) in myeloid malignancies
del (13q)
del(17p) in myeloid malignancies
del(1p) solely
del(20q) in myeloid malignancies
del(21)(q21q22) USP16/RUNX1
del(5q) in myeloid neoplasms
del(6p) (loss of JARID2 and DTNBP1) in myeloid malignances
del(6q)
-7/del(7q) in childhood
-7/del(7q) in adults
del(9q) solely
der(9)t(1;9)(q11-12;q34)
Unbalanced whole-arm translocation der(1;10)(q10-q11;p10-p12)
Unbalanced whole-arm translocation der(1;13) in hematologic malignancies
der(15)t(1;15)(q11-12;p11-13) and der(15)t(1;15)(q21-25;p10-13)
dic(1;15)(p11;p11)
dic(5;17)(q11-14;p11-13)
dic(17;20)(p11.2;q11.2)
dup(1)(q11-q44) in myeloid malignancies
i(17q) solely in myeloid malignancies
i(5)(p10) in acute myeloid leukemia
i(7)(q10)
i(7)(q10) in myeloid malignancies
ider(20q) in Myeloid Malignancies
idic(X)(q13)
inv(6)(p25q13)
inv(11)(p15q22) NUP98/DDX10::t(11;11)(p15;q22) NUP98/DDX10
inv(11)(p15q23) NUP98/KMT2A
inv(11)(q21q23) KMT2A/MAML2 in therapy related leukemias
inv(12)(p13q15) ETV6/PTPRR
inv(16)(p13q22) CBFB/MYH11::t(16;16)(p13;q22) CBFB/MYH11::del(16)(q22) CBFB/MYH11
inv(18)(p11q21)
inv(3)(q21q26) RPN1/MECOM::t(3;3)(q21;q26) RPN1/MECOM::ins(3;3)(q26;q21q26) RPN1/MECOM
inv(3)(p24q26) ?/MECOM
i(22)(q10) in myeloid malignancies
i(X)(p10) in female patients
i(Xq10) in female patients
MLL amplification in leukemia
-21 or monosomy 21 (solely)
Monosomal karyotype (MK) in myeloid malignancies
Myelodysplastic syndrome with excess blasts
+X solely in myeloid malignancies
Refractory anemia with excess blasts (RAEB) in 2003
Refractory anemia (RA)
Refractory anemia with ringed sideroblasts (RARS)
der(1)t(1;1)(p36;q11-q32) in hematopoietic malignancies
t(1;2)(p36;p21) THADA/PRDM16
t(1;3)(p36;q21) PSMD2/PRDM16 ???
t(1;3)(p36;p21)
t(1;3)(p36;q21) RPN1/PRDM16
t(1;6)(p36;p21)
der(1;7)(q10;p10)
t(1;11)(p32;q23) KMT2A/EPS15
der(11)t(1;11)(q11-23;q14-25)
t(1;12)(p36;p13) ETV6/MDS2
t(1;12)(q21;p13) ETV6/ARNT
der(12)t(1;12)(q11-21;p11-13)
t(1;12)(q21;q24)
der(1;14)(p10 or q10;p10 or q10)
t(1;16)(q11;q11)
t(1;18)(q10;q10)
t(1;19)(p13;p13.1)
der(20)t(1;20)(q10-21;q11-13)
t(1;21)(p36;q22) RUNX1/PRDM16
t(2;3)(p15-23;q26-27) ?/MECOM
t(2;4)(p23;q25-q35)
t(2;8)(q12;p11) RANBP2/FGFR1
t(2;11)(p21;q23) KMT2A/?
t(2;11)(p21;q23) without KMT2A (MLL) rearrangement
t(2;12)(q31;p13) ETV6/?
t(3;3)(p24;q26) ?/MECOM
t(3;4)(p21;q34)
t(3;5)(q25;q34) NPM1/MLF1
t(3;5)(q21;q31)
t(3;7)(q26;q21) CDK6/MECOM
t(3;8)(q26;q24) PVT1/MECOM
t(3;11)(p25;p15) ANKRD28/NUP98
t(3;11)(q12;p15) NUP98/LNP1
t(3;12)(q26;p13) ETV6/MECOM::t(3;12)(q26;p13) ETV6/EVI1
t(3;16)(q21;q22)
t(3;18)(q26;q11) ?/MECOM
t(3;21)(q26;q22) RUNX1/MECOM
t(3;21)(q26;q11) NRIP1/MECOM
t(4;5)(q31;q31)
t(4;11)(p12;q23) KMT2A/FRYL
t(5;11)(q31;q23) KMT2A/ARHGAP26
t(5;12)(q33;p13) ETV6/PDGFRB
t(5;12)(q13;p13) ?/ETV6
t(5;12)(q31;p13) ETV6/ACSL6 in MDS,AML and AEL
t(5;16)(q32;p13) NDE1/PDGFRB
t(5;17)(q33;p11.2) SPECC1/PDGFRB
t(5;17)(q33;p13) RABEP1/PDGFRB
t(5;17)(q35;q21) without RARA involvement in non-M3 AML
t(5;21)(q13;q22) RUNX1/?
t(5;7)(q33;q11) HIP1/PDGFRB
t(6;9)(p22;q34) DEK/NUP214
t(6;9)(p22;q34) DEK/NUP214 in Childhood
t(6;12)(p21;p13) CCND3/ETV6 in lymphoid malignancies
t(6;20)(q13;q12) LMBRD1/CHD6
t(6;21)(p22;q22) RUNX1-?
t(7;12)(p12;q13) HMGA2 truncated
t(8;9)(p22;p24) PCM1/JAK2
t(8;12)(q12;p13)
t(8;12)(q22;q13) HMGA2/?
t(8;21)(q23;q22) RUNX1/ZFPM2
t(9;12)(q22;p13) ETV6/SYK
t(X;20)(q13;q13.3)
t(10;12)(q24;p13) ETV6/GOT1
t(10;16)(q22;p13) KAT6B/CREBBP
t(11;14)(p15;q22) AP2A2/NID2
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;17)(q23;q25) KMT2A/SEPT9
t(11;17)(p15;q21) NUP98/?
t(11;20)(p15;q11) NUP98/TOP1
t(11;21)(q13;q22) RUNX1/MACROD1
t(11;22)(q13;q13) HRASLS5/PHF21B
der(18)t(1;18)(q10-25;q11-23)
t(12;12)(p13;q13) HMGA2/?
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;13)(p12;q12-14) ETV6/CDX2
t(12;13)(p13;q14) LIN00598/ETV6
t(12;14)(q13;q31) HMGA2/?
t(12;17)(p13;p13) ETV6/PER1
t(12;18)(p13;q12) ETV6/SETBP1
t(12;19)(p13;p13) TCF3/ZNF384
t(12;20)(q15;q11.2) HMGA2 truncated
t(12;22)(p13;q12) MN1/ETV6
t(14;21)(q22;q22) RUNX1/?
t(15;21)(q22;q22) RUNX1/?
t(16;21)(q24;q22) RUNX1/CBFA2T3
t(20;21)(q13;q22) RUNX1/?
t(20;21)(q13.2;q22.12) ZFP64/RUNX1
t(6;8)(q27;p12) FGFR1OP/FGFR1
t(8;13)(p11;q12) ZMYM2/FGFR1
t(9;12)(q34;p13) ETV6/ABL1
Isolated tetrasomy 8 in AML, MDS and MPD
+11 or trisomy 11 (solely) KMT2A
+13 or trisomy 13
+14 or trisomy 14 (solely)
+15 or trisomy 15 (as sole autosomal abnormality)
+16 or trisomy 16 (solely)
+18 or trisomy 18 in lymphoproliferative disorders
+19 or trisomy 19
+20 or trisomy 20 (solely)
+21 or trisomy 21
+2 or trisomy 2
+6 or trisomy 6
+7 or trisomy 7 (solely)
+8 or trisomy 8
+9 or trisomy 9
1q triplication in hematologic malignancies
t(Y;1)(q12;q12)
1q translocations (unbalanced) in myeloid malignancies
Y loss in leukemia
3q26 rearrangements (MECOM) in myeloid malignancies
11q23 rearrangements (KMT2A) in leukaemia
12p abnormalities in myeloid malignancies
t(9;12)(p24;p13) ETV6/JAK2
Infant leukaemias::Congenital leukaemias::Neonatal leukaemias
Preleukaemia [obs]
Preleukemic syndrome [obs]
Myelodysplastic syndrome, unclassifiable
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