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184 Part IV: Molecular and Cellular Hematology Chapter 13: Cytogenetics and Genetic Abnormalities 185

TABLE 13–4. Cytogenetic-Immunophenotypic Correlations in Malignant Lymphoid Diseases
Chromosome
Disease Abnormality Frequency* Involved Genes † Consequence ‡
ACUTE LYMPHOBLASTIC LEUKEMIA
Precursor B t(12;21)(p13.2;q22.3) 25% ETV6/TEL RUNX1/AML1 Fusion protein–TF
t(9;22)(q34.1;q11.2) 10%# ABL1 BCR Fusion protein–altered cytokine
signaling pathways
t(4;11)(q21.3;q23.3) 5% AFF4 KMT2A Fusion protein–TF
t(17;19)(q22;p13.3) 1% HLF TCF3 (E2A) Fusion protein-TF
t(11;19)(q23.3;p13.3) 1% KMT2A MLLT1/ENL Fusion protein–TF
Pre-B t(1;19)(q23;p13.3) 6% (30%) PBX1 TCF3 (E2A) Fusion protein-TF
B (SIg+) t(8;14)(q24.2;q32.3) 5% (95%) MYC IGH Deregulated expression–TF
t(2;8)(p12;q24.2) <1% (1%) IGK MYC Deregulated expression–TF
t(8;22)(q24.2;q11.2) <1% (4%) MYC IGL Deregulated expression–TF
Other Hyperdiploidy (50–60) 10%
del(12p), t(12p) 10%
T t(11;14)(p15.4;q11.2) 1% LMO1 TRA Deregulated expression–TF
t(11;14)(p13;q11.2) 3% LMO2 TRA Deregulated expression–TF
t(8;14)(q24.2;q11.2) <1% MYC TRA Deregulated expression–TF
inv(14)(q11.2q32.1) <1% TRA TCL1A Deregulated expression–TF
t(10;14)(q24.3;q11.2) 3% TLX1 TRA Deregulated expression–TF
t(1;14)(p33;q11.2) 1% TALI TRD Deregulated expression–TF
t(7;9)(q34;q34.3) TRB NOTCH1 Deregulated expression–TF
t(7;19)(q34;p13.3) 2%
del(9p), t(9p) <1% CDKN2A, Tumor suppressor gene–cell-cycle
<1% (10%) CDKN2B regulation
LYMPHOMA
B-Cell Lymphoma
Burkitt t(8;14)(q24.2;q32.3) 95% MYC IGH Deregulated expression–TF
t(2;8)(p12;q24.2) 1% IGK MYC Deregulated expression–TF
t(8;22)(q24.2;q11.2) 4% MYC IGL Deregulated expression–TF
Follicular SNCL t(14;18)(q32.3;q21.3) 80% IGH BCL2 Deregulated expression–antiapoptosis
DLBCL t(14;18)(q32.3;q21.3) 20% IGH BCL2 protein
DLBCL t(3;22)(q27;q11.2) 45% for all BCL6 IGL Deregulated expression–TF
t(3;14)(q27;q32.3) t(3q27) BCL6 IGH Deregulated expression–TF
MCL t(11;14)(q13.3;q32.3) ~100% CCND1 IGH Deregulated expression–TF
LPL t(9;14)(p13.2;q32.3) PAX5 IGH Deregulated expression–TF
SLL t(14;19)(q32.3;q13.3) IGH BCL3 Deregulated expression–TF
MALT t(11;18)(q22.2;q21.3) 40–50% BIRC3/API2 MALT1 Fusion Protein–NFκB activation
t(1;14)(p22.3;q32.3) 10% BCL10 IGH Deregulated expression–increased NFκB
activation
t(14;18)(q32.3;q21.3) 10–20% IGH MALT1 Deregulated expression–increased NFκB
activation
t(3;14)(p13;q32.3) 10% FOXP1 IGH Deregulated expression–TF
t(X;14)(p11.4;q32.3) rare GPR34 IGH Deregulated expression–G-protein–
coupled receptor
PCMZL t(14;18)(q32.3;q21.3) rare IGH MALT1 Deregulated expression–increased NFκB
activation
PCFCL t(14;18)(q32.3;q21.3) 40% IGH BCL2 Deregulated expression–anti-apoptosis
protein
(continued )

Kaushansky_chapter 13_p0173-0190.indd 184 17/09/15 6:32 pm