t(8;9)(q24;p13) ?/MYC

2013-10-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


B-cell acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL)

Phenotype stem cell origin

There were 5 cases of ALL (L3-ALLs and CD10+ ALLs in 2 cases each), 11 cases of diffuse large B-cell lymphoma (DLBCL), 7 cases of unclassifiable B-cell lymphoma, one case of follicular lymphoma, and one case of diffuse mixed small and large cell lymphoma (Levine et al., 1989; Nacheva et al., 1993; Dunphy et al., 2003; DAchille et al., 2006; Bertrand et al., 2007; Le Gouill et al., 2007; Christie et al., 2008; Johnson et al., 2009; Subramaniyam et al., 2011).


Twenty five cases are available. There were 12 male and 13 female patients, median age was 63 years (range 42-90 years). In a review of NHLs with a t(14;18)(q32;q21), the incidence of MYC translocations was 5%, and the incidence of t(8;9)(q24;p13) was 1% (Johansson et al., 1995).
Atlas Image
Meta-analysis of survival in patients with t(8;9)(q24;p13).


Median survival was 4 months (see figure). However, patients with an ALL died at 1, 1, 1.5, and 1.5 months. Median survival of patients with NHL was 6 months, and 3 out of 19 NHL patients were still alive 5 years after diagnosis (16%).

Genes Involved and Proteins

Breakpoints occurred close to MYC on chromosome 8 and close to: ZBTB5, ZCCHC7, and PAX5 on chromosome 9 (Bertrand et al., 2007; Le Gouill et al., 2007; Johnson et al., 2009).
- ZBTB5 is a POZ domain Krüppel-like zinc finger transcription repressor. ZBTB5 interacted with co-repressor-histone deacetylase complexes such as BCOR, NCOR1, and NCOR2 (SMRT), resulting in deacetylation of histones Ac-H3 and Ac-H4, and transcriptional repression of CDKN1A (p21) (Koh et al., 2009).
- ZCCHC7 is the equivalent of the yeast AIR1. In yeast, a number of unwanted RNA transcripts are first recognized by the nuclear exosome cofactor Trf4/5p-Air1/2p-Mtr4p polyadenylation (TRAMP) complex before subsequent nuclear-exosome-mediated degradation. TRAMP facilitates pre-mRNA splicing (Kong et al., 2013).
- PAX5 is a lineage-specific transcription factor; recognizes the concensus recognition sequence GNCCANTGAAGCGTGAC, where N is any nucleotide. Involved in B-cell differentiation. Entry of common lymphoid progenitors into the B cell lineage depends on E2A, EBF1, and PAX5; activates B-cell specific genes and represses genes involved in other lineage commitments. Activates the surface cell receptor CD19 and represses FLT3. PAX5 physically interacts with the RAG1/RAG2 complex, and removes the inhibitory signal of the lysine-9-methylated histone H3, and induces V-to-DJ rearrangements. Genes repressed by PAX5 expression in early B cells are restored in their function in mature B cells and plasma cells, and PAX5 repressed (Fuxa et al., 2004; Johnson et al., 2004; Zhang et al., 2006; Cobaleda et al., 2007).
Gene name
MYC v-myc myelocytomatosis viral oncogene homolog (avian)
Protein description
DNA binding protein. Binds DNA as a heterodimer with MAX. Involved in various cellular processes including cell growth, proliferation, cell adhesion, apoptosis, angiogenesis, and stem cell behaviour modulation.

Result of the Chromosomal Anomaly

Expression localisation

There was abundant MYC expression in all the cases studied.

Highly cited references

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Pubmed IDLast YearTitleAuthors
172302272007Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas.Bertrand P et al
182975232008C-MYC translocation in t(14;18) positive follicular lymphoma at presentation: An adverse prognostic indicator?Christie L et al
174404522007Pax5: the guardian of B cell identity and function.Cobaleda C et al
170745912006Translocation (14;18)(q32;q21) in acute lymphoblastic leukemia: a study of 12 cases and review of the literature.D'Achille P et al
127089082003Mature B-cell acute lymphoblastic leukemia with associated translocations (14;18)(q32;q21) and (8;9)(q24;p13). A Burkitt variant?Dunphy CH et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
75793601995Cytogenetic evolution patterns in non-Hodgkin's lymphoma.Johansson B et al
152585792004B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.Johnson K et al
195971842009Lymphomas with concurrent BCL2 and MYC translocations: the critical factors associated with survival.Johnson NA et al
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25069531989Four new recurring translocations in non-Hodgkin lymphoma.Levine EG et al
83242251993C-MYC translocations in de novo B-cell lineage acute leukemias with t(14;18)(cell lines Karpas 231 and 353).Nacheva E et al
217181392011De novo B lymphoblastic leukemia/lymphoma in an adult with t(14;18)(q32;q21) and c-MYC gene rearrangement involving 10p13.Subramaniyam S et al
166801442006Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes.Zhang Z et al


Jean-Loup Huret

t(8;9)(q24;p13) ?/MYC

Atlas Genet Cytogenet Oncol Haematol. 2013-10-01

Online version: http://atlasgeneticsoncology.org/haematological/2141/t(8;9)(q24;p13)