Dicentric (7;9)(p11-13;p11) is a rare but recurrent abnormality in pediatric and adult precursor B acute lymphoblastic leukemia (B-ALL). The rarity precludes a deep understanding of its biology and associated prognosis. However, recent findings have correlated dic(7;9) and PAX5 mutations, highlighting this cytogenetic event's involvement in leukemogenesis and may also shed light on the overall prognosis of dic(7;9) B-ALL

Kram, David E

Pettenati, Mark J

Russell, Thomas B

Underdown, Mary J

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Leukaemia Section 
Short Communication 
Atlas Genet Cytogenet Oncol Haematol. 2019; 23(10) 320 
Atlas of Genetics and Cytogenetics 
in Oncology and Haematology 
INIST-CNRS OPEN ACCESS JOURNAL 
dic(7;9)(p11-13;p11) 
Mary J Underdown, Thomas B Russell, Mark J Pettenati, David E Kram 
Department of Pediatrics, Wake Forest School of Medicine, Winston Salem, North Carolina (MJU); 
Section of Pediatric Hematology-Oncology, Department of Pediatrics, Wake Forest School of Medicine, 
Winston Salem, North Carolina (DEK, TBR); Department of Pathology, Wake Forest School of 
Medicine, Winston Salem, USA (MJP), Medical Center Boulevard, Winston Salem, NC, USA 27157; 
dkram@wakehealth.edu
Published in Atlas Database: April 2019 
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/dic0709p11p11ID1054.html 
Printable original version : http://documents.irevues.inist.fr/bitstream/handle/2042/70583/04-2019-dic0709p11p11ID1054.pdf 
DOI: 10.4267/2042/70583
This article is an update of : 
Strehl S. dic(7;9)(p11-13;p11). Atlas Genet Cytogenet Oncol Haematol 2006;10(2) 
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. 
© 2019 Atlas of Genetics and Cytogenetics in Oncology and Haematology 
Abstract 
Dicentric (7;9)(p11-13;p11) is a rare but recurrent 
abnormality in pediatric and adult precursor B acute 
lymphoblastic leukemia (B-ALL). The rarity 
precludes a deep understanding of its biology and 
associated prognosis. However, recent findings have 
correlated dic(7;9) and PAX5 mutations, 
highlighting this cytogenetic event's involvement in 
leukemogenesis and may also shed light on the 
overall prognosis of dic(7;9) B-ALL. 
Keywords 
Acute lymphoblastic leukemia, dicentric 
translocation, PAX5, chromosome 7, chromosome 
9. 
Figure 1:  dic(7;9)(p11-13;p11) G-banding - Courtesy 
Cytogenetics Laboratory of the CCRI, Children's Cancer 
Research Institute, Vienna. 
Clinics and pathology 
Disease 
ALL 
Phenotype/cell stem origin 
FAB L1 phenotype; pre-B immunophenotype, cIg+ 
or cIg- 
Epidemiology 
There have been 36 cases of dic(7;9)(p11-13;p11) 
currently identified in the literature, 17 (47.2%) of 
which are pediatric cases. This rare translocation 
makes up < 1% of childhood ALL, It is most 
commonly found in younger children, age ≤ 6 years; 
dic(7;9)(p11-13;p11) is found in approximately 3% 
of childhood ALL with 9p abnormalities and has 
been associated with B-ALL with t(9;22), or 
Philadelphia chromosome positive ALL. 
Clinics 
The most common clinical manifestations of dic(7;9) 
noted in the literature include age  female, T- and B-
ALL with B-cell predominance, leukocytosis 9, 
enlargement of liver/spleen/lymph nodes (Pan and 
Xue, 2006). 
Prognosis 
Favorable prognostic indicators in ALL include: age 
1-10 years, female sex, Caucasian or Asian ethnicity, 
WBC count <50,000 at presentation, B-cell 
immunophenotype, hyperdiploidy, and trisomy of 
chromosome 4 or 10. The most important prognostic 
factor is end of induction therapy minimal residual 
disease (MRD) (Hunger and Mullighan, 2015; 
Iacobucci and Mullighan, 2017).  
However, abnormalities in chromosome 9p or 
deletions of the tumor suppressor genes located on 
dic(7;9)(p11-13;p11) Underdown MJ et al. 
 
 
 
 
 
Atlas Genet Cytogenet Oncol Haematol. 2019; 23(10) 321 
 
7p have been associated with increased rates of 
relapse (Jarosova and Volejnikova, 2016), and may 
even potentially trump favorable NCI criteria or 
other favorable cytogenetics. 
Cytogenetics 
Note 
Several dicentric chromosomes found in childhood 
ALL are formed from the q arms of chromosomes 7, 
9, 12, and, 17 with partial loss of the respective p 
arms. 
 
Figure 2:  FISH image depicting 7; dic 7-9; 9 with 
centromeric probes of 7 and 9 fused - Courtesy Department 
of Pathology, Wake Forest School of Medicine, Winston 
Salem, USA. 
Cytogenetics morphological 
Unbalanced; In most cases, formation of a dicentric 
chromosome resulting in partial monosomies of 7p 
and 9p -> hypodiploid with 45 chromosomes. 
However, hyperdiploidy (56 chromosomes) has been 
identified. 
Additional anomalies 
del(6q), dup(1p), del(8p),... 
Genes involved and 
proteins 
PAX5 
Location 9p13.2 
Note 
Recent studies have shown an association between 
dic(7;9) and PAX5 mutation. PAX5 encodes the B 
lymphoid transcription factor gene and is vitally 
important in regulating B cell lineage differentiation. 
PAX5 alterations may lead to arrested B-cell 
development in the pro-B-cell stage and may be 
central events in B lymphoid leukemogenesis (Shah 
and Schrader, 2013).  
A recent study by Bastian, et. al. found 19/250 
pediatric and adult patients with B-cell precursor 
ALL harbored PAX5 mutations. Of these patients 
with PAX5 mutations, 12/19 (63%) had alterations 
in chromosome 9, though the specific cytogenetic 
alterations were not reported (Bastian and 
Schroeder, 2019).  
A large cohort study out of St. Jude's identified 
17/1988 (0.86%) patients with dic(7;9) 
translocation; of those, 11/17 (65%) had a PAX5 
alteration or mutation. While the PAX5 gene is 
located on 9p13.2, 5/11 (45%) cases with 
dic(7;9)(p11;p11) were associated with PAX5 
alterations. This study found two distinct subtypes of 
B-ALL characterized by PAX5 alterations: the first 
(n=148) which harbor diverse PAX5 alterations 
(including rearrangements, sequence mutations, and 
focal intragenic amplifications) and the second 
(n=44) which harbor a particular nonsilent sequence 
mutation, PAX5 p.Pro80Arg. As a group of all 
PAX5, the 5-year event-free survival was variable, 
ranging from 50% to 75% (Gu and Churchman, 
2019). 
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This article should be referenced as such: 
Underdown MJ, Russell TB, Pettenati MJ, Kram DE. 
dic(7;9)(p11-13;p11). Atlas Genet Cytogenet Oncol 
Haematol. 2019; 23(10):320-322. 


dic(7;9)(p11-13;p11)

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