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178 Part IV: Molecular and Cellular Hematology Chapter 13: Cytogenetics and Genetic Abnormalities 179

TABLE 13–2. Recurring Chromosome Abnormalities in Malignant Myeloid Diseases
Disease Chromosome Abnormality Frequency Involved Genes* Consequence
CML t(9;22)(q34.1;q11.2) ~99% † ABL1 BCR Fusion protein–altered
cytokine signaling pathways,
genomic instability
CML blast t(9;22) with +8, +der(22) ~70%
phase t(9;22), +19, or i(17q)
PV +8 20% (all abnormali-
+9 ties combined)
del(20q)
del(13q)
partial trisomy 1q
PMF +8 30% (all abnormali-
+9 ties combined)
−7/del(7q)
del(5q)/t(5q)
del(20q)
del(13q)
partial trisomy 1q
AML t(8;21)(q22;q22.3) 10% RUNX1T1/ETO RUNX1/AML1 Fusion protein–altered
transcriptional regulation
t(15;17)(q24.1;q21.1) 9% PML RARA Fusion protein–altered
transcriptional regulation
inv(16)(p13.1q22) or t(16;16) 5% MYH11 CBFB Fusion protein–altered
(p13.1;q22) transcriptional regulation
t(9;11)(p21.3;q23.3) 5–8% for all MLLT3/AF9 KMT2A/MLL KMT2A histone methyltrans-
t(10;11)(p12;q23.3) t(11q23.3) MLLT10/AF10 KMT2A ferase fusion proteins–altered
t(11;17)(q23.3;q25) KMT2A MLLT6/AF17 chromatin structure and tran-
scriptional regulation
t(11;19)(q23.3;p13.3) KMT2A MLLT1/ENL
t(11;19)(q23.3;p13.1) KMT2A ELL
t(6;11)(q27;q23.3) MLLT4/AF6 KMT2A
Other t(11q23.3) KMT2A
del(11)(q23)
+8 8%
+11 1–2% KMT2A Internal tandem duplication
−7 or del(7q) 14%
del (5q)/t(5q) 12%
t(6;9)(p23;q34.1) 1% DEK NUP214/CAN Overexpression of MECOM
inv(3)(q21.3q26.2) or t(3;3) 2% MECOM/EVI1
del(20q) 5%
t(12p) or del(12p) 2%
Therapy- −7 or del(7q) 45%
related MDS/ del(5q)/t(5q) 40%
AML
der(1;7)(q10;p10) 2%
dic(5;17)(q11.1–13;p11.1–13) 5% TP53 Loss of function–DNA
damage response
t(9;11)(p21.3;q23.3)/t(11q23) 3% MLLT3 KMT2A KMT3A histone methyltrans-
t(11;16)(q23.3;p13.3) 2% (t-MDS) KMT2A CREBBP ferase fusion proteins–altered
transcriptional regulation
t(21q22.3) 2% RUNX1/AML1 Overexpression of MECOM
t(3;21)(q26.2;q22.3) 3% MECOM RUNX1
(continued )

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