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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 (Continued)
Chromosome
Disease Abnormality Frequency* Involved Genes † Consequence ‡
T-Cell Lymphoma
ALK+ ALCL t(2;5)(p23.2;q35.1) 75% ALK NPM1 Deregulated expression–tyrosine kinase
ALK− ALCL t(6;7)(p25.3;q32.3) 10–15% IRF4, DUSP22 Deregulated expression of TF (IRF4) and
phosphatase (DUSP22)
Nasal/NK cell i(1q), i(7q), i(17q)
Hepatosplenic i(7q) >95%
Peripheral t(5;9)(q33.3;q22.2) 15% ITK SYK Constitutively active tyrosine kinase
(SYK)
CHRONIC LYMPHOCYTIC LEUKEMIA
B t(11;14)(q13.3;q32.3) 10% CCND1 IGH Deregulated expression–cell-cycle
regulation
t(14;19)(q32.3;q13.2) 5% IGH BCL3 Deregulated expression–increased NFκB
activation
t(2;14)(p13;q32.3) 5% IGH
t(14q32.3) 15% IGH
del(13q) 30%
+12 25%
T t(8;14)(q24.2;q11.2) 5% MYC TRA Deregulated expression–TF
inv(14)(q11.2q32.3) 5% TRA/TRD IGH Deregulated expression
inv(14)(q11.2q32.1) 5% TRA/TRD TCL1A Deregulated expression–TF
MULTIPLE MYELOMA
B −13/del(13q) 40%
t(4;14)(p16;q32) 15% FGFR3 IGH Deregulated expression–growth
factor receptor
WHSC1/MMSET IGH Deregulated chromatin modifica-
tion and gene expression–histone
methyltransferase
t(14;16)(q32.3;q23) 5% IGH MAF Deregulated expression–TF
t(6;14)(p21;q32.3) 4% CCND3 IGH Deregulated expression–cell-cycle
regulation
t(11;14)(q13.3;q32.3) 15% CCND1 IGH Deregulated expression–cell-cycle
regulation
t(14q32.3) 50% IGH
del(17p)/t(17p) 30% TP53 Loss of function–DNA damage response
gain of 1q
hyperdiploidy: 20%
+3,+5,+7,+9,+11
ADULT T-CELL LEUKEMIA/LYMPHOMA
t(14;14)(q11.2;q32.3) TRA IGH Deregulated expression
inv(14)(q11.2q32.3) TRA/TRD IGH Deregulated expression
+3
ALCL, anaplastic large cell lymphoma; DLBCL, diffuse large B-cell lymphoma; LPL, lymphoplasmacytoid lymphoma; MALT, mucosa-associated
lymphoid tissue; MCL, mantle cell lymphoma; NFκB, nuclear factor κB; NK, natural killer; PCFCL, primary cutaneous follicular center lymphoma;
PCMZL, primary cutaneous marginal zone lymphoma; SIg, surface immunoglobulin; SLL, small lymphocytic lymphoma; SNCL, small noncleaved
cell lymphoma; TF, transcription factor.
*The percentage refers to the frequency within the disease overall. The number in the parentheses refers to the frequency within the morpho-
logic or immunologic subtype of the disease.
† Genes are listed in order of citation in the karyotype; e.g., for precursor B ALL, ETV6 is at 12p13.2 and RUNX1 is at 21q22.3.
‡ By cytogenetic analysis, the frequency in children is approximately 5%, and in adults it is approximately 25%; using molecular probes, this
frequency is 30% in adults overall, and 50% in adults older than 60 years of age.

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