dic(9;16)(p13;q11) PAX5/?

2014-04-01   Jean-Loup Huret 

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

Clinics and Pathology


Acute lymphoblastic leukemia (ALL)


Only one case to date, a 15-year old boy with a pre-B-ALL (Coyaud et al., 2010).

Genes Involved and Proteins

Gene name
PAX5 (paired box gene 5)
Protein description
391 amino acids; from N-term to C-term, PAX5 contains: a paired domain (aa: 16-142); an octapeptide (aa: 179-186); a partial homeodomain (aa: 228-254); a transactivation domain (aa: 304-359); and an inhibitory domain (aa: 359-391). 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 repress genes involved in other lineage commitments. Activates the surface cell receptor CD19 and repress 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; Medvedovic et al., 2011).

Result of the Chromosomal Anomaly


Truncation of PAX5 after exon 5. The region in 16q11 does not contain any gene.
Atlas Image
Truncated PAX5.


256 amino acids. The truncated protein contains the DNA binding paired domain and octapeptide of PAX5 (201 aa) and 55 aa from contiguous introns.

Highly cited references

Pubmed IDYearTitleCitations
351567272022The PAX5-JAK2 translocation acts as dual-hit mutation that promotes aggressive B-cell leukemia via nuclear STAT5 activation.3
346571282022Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.3
345606832022A Comprehensive Clinicopathologic and Molecular Study of 19 Primary Effusion Lymphomas in HIV-infected Patients.2
349333432022Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.2
351318712022Transient Inhibition of the JAK/STAT Pathway Prevents B-ALL Development in Genetically Predisposed Mice.2
350046012021Risk Factors for Childhood Leukemia: Radiation and Beyond.2
349662602021Sexual Dimorphism of Early Transcriptional Reprogramming in Dorsal Root Ganglia After Peripheral Nerve Injury.2
354670572022PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch.1
350216052022B-cell antigen receptor expression and phosphatidylinositol 3-kinase signaling regulate genesis and maintenance of mouse chronic lymphocytic leukemia.1
350017602022Immunophenotype of the inflammatory response in the central and enteric nervous systems of cockatiels (Nymphicus hollandicus) experimentally infected with parrot bornavirus 2.1
350944432022Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.1
347873762022Philadelphia-like acute lymphoblastic leukemia: Characterization in a pediatric cohort in a referral center in Colombia.1
352912102022Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.1
348968892022Merkel cell carcinoma in the setting of hematologic disease is associated with unique features and potential pitfalls.1
341011892022Histological and immunohistochemical features suggesting aetiological differences in lymph node and (muco)cutaneous feline tuberculosis lesions.1
349745472021NeuN, a DNA-binding neuron-specific protein expressed by Merkel cell carcinoma: analysis of 15 cases.1
348016012022Clinicopathological features of syncytial variant nodular sclerosis Hodgkin lymphoma.1
360326572022The Prognostic Value of Eight Immunohistochemical Markers Expressed in the Tumor Microenvironment and on Hodgkin Reed-Sternberg Cells in Pediatric Patients With Classical Hodgkin Lymphoma.0
359873472022EBV-Positive Nodular Lymphocyte Predominant Hodgkin Lymphoma: A Single Institution Experience.0
359851672022PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.0
359771012022Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.0
359727032022Immunohematological features of free-living Alouatta belzebul (Linnaeus, 1766) red-handed howler monkeys in the Eastern Amazon.0
359470772022Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.0
359202992022Mcm2 hypomorph leads to acute leukemia or hematopoietic stem cell failure, dependent on genetic context.0
357891152022Hodgkinoid histiocytosis: an atypical nodal CD30 and S100-positive histiocytosis with eosinophilia.0
355870452022Ocular mycobacterial lesions in cats.0
359498092022Transient atypical lymphoplasmacytic proliferation of the endometrium associated with pyometra: a case report.0
359113812022Thymic Extranodal Marginal-Zone Lymphoma of Mucosa-Associated Lymphoid Tissue: Pathological Features, 18F-FDG PET/CT Findings and Prognosis in 12 Cases.0
358643052022Peripheral blood DNA methylation profiles predict future development of B-cell Non-Hodgkin Lymphoma.0
358050542022Impact of IKZF1 Deletions in the Prognosis of Childhood Acute Lymphoblastic Leukemia in Argentina.0
359928822022Prognostic significance of copy number variation in B-cell acute lymphoblastic leukemia.0
359635212022Sequential approach to improve the molecular classification of childhood acute lymphoblastic leukemia.0
359296592022Prognostic role of targeted methylation analysis in paraffin-embedded samples of adrenocortical carcinoma.0
359175782022Hippocampal DNA Methylation, Epigenetic Age and Spatial Memory Performance in Young And Old Rats.0
359027332022Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants.0
355757652022Nodular Lymphocyte-predominant Hodgkin Lymphoma With Nodular Sclerosis: An Underrecognized Feature Associated With Pattern D.0
354604052022IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large Cell Lymphomas.0
351343162022Bioinformatics analysis deciphering the transcriptomic signatures associated with signalling pathways and prognosis in the myelodysplastic syndromes.0
349242122022Monocytoid switch in an adult with B-cell precursor acute lymphoblastic leukaemia characterised by the PAX5 P80R mutation.0
359791192022Gray zone lymphoma effectively treated with cyclophosphamide, doxorubicin, vincristine, prednisolone, and rituximab chemotherapy: A case report.0
357661882022Dynamic immune ecosystem of dengue infection revealed by single-cell sequencing.0
353074032022CD3-and CD20-negative extramedullary non-Hodgkin leukemia/lymphoma: a histopathological study of 118 cases.0
358832132022Detection and Characterization of Paraproteinemia in Canine Chronic B-cell Lymphocytic Leukemia Using Routine and Free Light Chain Immunofixation.0
356336112022Immune cell characterization in spontaneous autoimmune orchitis in dogs.0
354421172022Primary nervous system lymphoma in cats.0
359262902022The utility of PAX8 in comparison with PAX5 immunohistochemical staining in the diagnosis of Hodgkin lymphoma.0
356001782022Immunohistochemical expression of transcription factors PAX5, OCT2, BCL6 and transcription regulator P53 in Non-Hodgkin lymphomas: A diagnostic cross-sectional study.0
355235072022Epstein-Barr virus-positive mucocutaneous ulcer, plasmablastic type, associated with nodal CD4+ angioimmunoblastic T-cell lymphoma and generalised pruritus: a self-limiting lymphoproliferative disorder resembling cutaneous plasmablastic lymphoma.0
355122542022The Effectiveness of Dual-Staining Immunohistochemistry in the Detection of Mantle Cell Lymphoma in the Bone Marrow.0
357745142022A Novel Defined Super-Enhancer Associated Gene Signature to Predict Prognosis in Patients With Diffuse Large B-Cell Lymphoma.0
357304882022Diagnostic utility of flow cytometry in identifying histiocytic sarcoma-A case report.0
356737212022[ALK-positive large B-cell lymphoma with EBV infection or cyclin D1 expression: a clinicopathological analysis of 3 cases].0
353224622022Epstein-Barr virus infection patterns in nodular lymphocyte-predominant Hodgkin lymphoma.0
352459312022Characterization of PAX5 intragenic tandem multiplication in pediatric B-lymphoblastic leukemia by optical genome mapping.0
351926842022Enhancer retargeting of CDX2 and UBTF::ATXN7L3 define a subtype of high-risk B-progenitor acute lymphoblastic leukemia.0
350675152022Composite Classic Hodgkin Lymphoma and Follicular Lymphoma: A Clinicopathologic Study of 22 Cases With Review of 27 Additional Cases in the Literature.0
354735562022Accurate and highly interpretable prediction of gene expression from histone modifications.0
354644682022Co-Expression of the B-Cell Key Transcription Factors Blimp-1 and IRF4 Identifies Plasma Cells in the Pig.0
353956752022Genomic profile of radiation-induced early-onset mouse B-cell lymphoma recapitulates features of Philadelphia chromosome-like acute lymphoblastic leukemia in humans.0
351796422022CD20/CD79a/PAX5/CD3-negative post-transplant lymphoma with aberrant actin and desmin co-expression-a potential differential diagnostic pitfall between PTLD and PTSMT.0
347472342022Primary Parotid Non-Hodgkin's B-Cell Lymphoma in an Elderly Woman on Pembrolizumab for Metastatic Invasive Papillary Urothelial Cell Carcinoma of the Bladder.0
342721662022Plasma EBF1 as a Novel Biomarker for Postmenopausal Osteoporosis.0
356466712022Case Report: Intravascular Large B-Cell Lymphoma: A Clinicopathologic Study of Four Cases With Review of Additional 331 Cases in the Literature.0
355624132022Human herpesvirus 8-negative effusion-based large B-cell lymphoma: a distinct entity with unique clinicopathologic characteristics.0
355219142022ALK-positive Large B-Cell Lymphoma Presenting as a Circumscribed Breast Mass with Germinal Center Immunophenotype.0
349815422022Immunohistochemistry of the oncofetal protein IMP3 is helpful in the diagnosis of intravascular large B-cell lymphoma using skin biopsy.0
354486662022Bcl-2 Immunoexpression in Feline Epitheliotropic Intestinal T-Cell Lymphomas.0
352640432022Pax5 and CD3 immunophenotyping of lymphoma in 2 central bearded dragons.0
351950402022The art of chromosome dynamics: an interview with Jane Skok.0
351828912022Clinical significance and mechanism of long noncoding RNA HAGLROS in triple negative breast cancer.0
343103682022Reactive Intralymphovascular Immunoblastic Proliferations Mimicking Aggressive Lymphomas.0
356644052022Primary Endometrial Diffuse Large B-cell Lymphoma: A Rare Disease and Diagnostic Challenge in an Asymptomatic Postmenopausal Woman.0
355629652022Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.0
354987402022Cyclosporin A Prevents Ovarian Graft Rejection, and Permits Normal Germ Cell Maturation Within the First 5 Weeks Post-transplantation, in the Domestic Turkey (Meleagris gallopavo).0
354093792022Hypermethylation-Mediated Silencing of CIDEA, MAL and PCDH17 Tumour Suppressor Genes in Canine DLBCL: From Multi-Omics Analyses to Mechanistic Studies.0
353900652022Association of colorectal cancer with genetic and epigenetic variation in PEAR1-A population-based cohort study.0
351914172022Paired box 5 increases the chemosensitivity of esophageal squamous cell cancer cells by promoting p53 signaling activity.0
349103272022Oral versus extra-oral plasmablastic lymphoma: A comparative analysis of 101 cases.0
352861762022A Curious Case of Morphologically Deceptive Pediatric B-Lymphoblastic Leukemia with Granular "Blebbed" Blasts and DLBCL-Like Biopsy Findings.0
345205182022Histologic Findings and Tissue B-Cell Depletion in Endoscopic Mucosal Biopsy Specimens of the Gastrointestinal Tract After Treatment With Rituximab.0
352269822022Cytofluorimetric assay to investigate variability in blinatumomab in vitro response.0
352015332022Antibiotics in early life and childhood pre-B-ALL. Reasons to analyze a possible new piece in the puzzle.0
350223302022PSMA3-AS1 induced by transcription factor PAX5 promotes cholangiocarcinoma proliferation, migration and invasion by sponging miR-376a-3p to up-regulate LAMC1.0
348724752022PAX5 Haploinsufficiency Induces Low T Cell Infiltration in the Cancer Microenvironment via Reduced Chemokines.0
345912922022Successful treatment of hepatosplenic T-cell lymphoma with fludarabine, high-dose cytarabine and subsequent unrelated umbilical cord blood transplantation.0
344997432022Sudden death in an adolescent due to undiagnosed classic Hodgkin lymphoma.0
353303702022Correlation of Genetic Variants and the Incidence, Prevalence and Mortality Rates of Acute Lymphoblastic Leukemia.0
352057582022Low Mutational Burden of Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue in Patients with Primary Sjogren's Syndrome.0
350764272022Plasma Cell-Predominant Lichen Planopilaris.0
349292282022The immune microenvironment of the hydatidiform mole.0
349772262021Case Report: Primary Diffuse Leptomeningeal Oligodendrogliomatosis in a Young Adult Cat.0
349449542021Impact of a Faulty Germinal Center Reaction on the Pathogenesis of Primary Diffuse Large B Cell Lymphoma of the Central Nervous System.0
346734232021In situ slow-release recombinant growth differentiation factor 11 exhibits therapeutic efficacy in ischemic stroke.0
343429352021Bone marrow trephine immunohistochemistry is useful in characterizing malignancy-associated myelonecrosis: A retrospective observational study.0
333986832021Combined Modality Management of Sinonasal Anaplastic Lymphoma Kinase Negative Anaplastic Large Cell Lymphoma in a Geriatric Patient-Report of a Rare Case.0
352644862022[Endoscopic mucosal resection of localized plasmablastic lymphoma with early rectal cancer:a rare case report and literature review].0
352319882022[Mutational spectrum and its prognostic significance in childhood acute lymphoblastic leukemia based on next-generation sequencing technology].0
350915492022Chronic lymphocytic leukemia (CLL) with Reed-Sternberg-like cells vs Classic Hodgkin lymphoma transformation of CLL: does this distinction matter?0
350139212022Spindle Variant Primary Diffuse Large B Cell Lymphoma of the Colon: Case Report and Literature Review.0
349748102022DNA hypermethylation of CADM1, PAX5, WT1, RARβ, and PAX6 genes in oropharyngeal cancer associated with human papillomavirus.0


Pubmed IDLast YearTitleAuthors
174404522007Pax5: the guardian of B cell identity and function.Cobaleda C et al
201601642010Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.Coyaud E et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
152585792004B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.Johnson K et al
219709552011Pax5: a master regulator of B cell development and leukemogenesis.Medvedovic J 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

dic(9;16)(p13;q11) PAX5/?

Atlas Genet Cytogenet Oncol Haematol. 2014-04-01

Online version: http://atlasgeneticsoncology.org/haematological/1686/dic(9;16)(p13;q11)