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

Disease

Acute lymphoblastic leukemia (ALL)

Epidemiology

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)
Location
9p13.2
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

Description

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

Description

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
360774952022The Pleiotropy of PAX5 Gene Products and Function.198
251232792014The regulatory network of B-cell differentiation: a focused view of early B-cell factor 1 function.138
383181772024EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms.136
391833322024Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers.100
359470772022Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder.96
381682802023Understanding the role of Pax5 in development of taxane-resistant neuroendocrine like prostate cancers.96
389267642024Exploring the oncogenic potential of circSOD2 in clear cell renal cell carcinoma: a novel positive feedback loop.87
363871442022PAX5 alterations in B-cell acute lymphoblastic leukemia.86
343018002021Pax5 regulates B cell immunity by promoting PI3K signaling via PTEN down-regulation.86
373356852023PAX5 fusion genes in acute lymphoblastic leukemia: A literature review.81
377251382023Essential role of the Pax5 C-terminal domain in controlling B cell commitment and development.77
376203222023Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice.74
302163392018Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations.73
366566412023Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets.70
351567272022The PAX5-JAK2 translocation acts as dual-hit mutation that promotes aggressive B-cell leukemia via nuclear STAT5 activation.69
331544972020Inhibition of inflammatory signaling in Pax5 mutant cells mitigates B-cell leukemogenesis.66
306432492019PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.65
365162562022PAX5 epigenetically orchestrates CD58 transcription and modulates blinatumomab response in acute lymphoblastic leukemia.65
388669792024The transcription factor PAX5 activates human LINE1 retrotransposons to induce cellular senescence.63
258556032015PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia.62
394249852024A SIRT7-dependent acetylation switch regulates early B cell differentiation and lineage commitment through Pax5.59
360649392022The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in glioblastoma cells by encoding a novel protein NTRK2-243aa.52
319417812020B Cell-Specific Transcription Activator PAX5 Recruits p300 To Support EBNA1-Driven Transcription.52
313815612019PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia.50
372219502023PAX5 and circ1857 affected DLBCL progression and B-cell proliferation through regulating GINS1.49
392564802024Rack1 regulates B-cell development and function by binding to and stabilizing the transcription factor Pax5.48
297130182018A PAX5-OCT4-PRDM1 developmental switch specifies human primordial germ cells.48
390967922024PAX5 functions as a tumor suppressor by RB-E2F-mediated cell cycle arrest in Kaposi sarcoma-associated herpesvirus-infected primary effusion lymphoma.47
336195572021EBF1 and PAX5 control pro-B cell expansion via opposing regulation of the Myc gene.46
213574262011Histone acetyltransferase p300 acetylates Pax5 and strongly enhances Pax5-mediated transcriptional activity.45
374030812023PAX5-miR-142 feedback loop promotes breast cancer proliferation by regulating DNMT1 and ZEB1.44
348242962021Pax5 mediates the transcriptional activation of the CD81 gene.43
282199272017Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia.43
371842942023BET inhibition targets ABC-DLBCL constitutive B-cell receptor signaling through PAX5.41
217654752012Dominant-negative mechanism of leukemogenic PAX5 fusions.41
248584372014Nasopharyngeal tonsils (adenoids) contain extrathymic corticothymocytes.41
359851672022PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.40
281927882017Metabolic gatekeeper function of B-lymphoid transcription factors.38
383481252024Paired Box 5 (PAX5) Gene Has Diagnostic and Prognostic Potential in Nasopharyngeal Carcinoma.38
387763752024SUMO-specific protease 1 regulates germinal center B cell response through deSUMOylation of PAX5.37
336725512021Pax5 Negatively Regulates Osteoclastogenesis through Downregulation of Blimp1.37
302579402018PAX5-ELN oncoprotein promotes multistep B-cell acute lymphoblastic leukemia in mice.37
255959122015LCK over-expression drives STAT5 oncogenic signaling in PAX5 translocated BCP-ALL patients.36
77775741995Deregulated expression of PAX5 in medulloblastoma.30
277482742016Level of PAX5 in differential diagnosis of non-Hodgkin's lymphoma.29
350944432022Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.27
352640432022Pax5 and CD3 immunophenotyping of lymphoma in 2 central bearded dragons.19
345319282006dic(7;9)(p11-13;p11).16
354670572022PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch.15
392566012024Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation.15
225787762012PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia.8
354604052022IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large Cell Lymphomas.6
391799322024Transcriptional function of E2A, Ebf1, Pax5, Ikaros and Aiolos analyzed by in vivo acute protein degradation in early B cell development.0
177174322007Diagnostic uses of Pax5 immunohistochemistry.0
219709552011Pax5: a master regulator of B cell development and leukemogenesis.0
182933592008Losing B cell identity.0
254283822015The role of Pax5 in leukemia: diagnosis and prognosis significance.0
266265032016GEMMs addressing Pax5 loss-of-function in childhood pB-ALL.0
182409952008PAX5 and B-cell neoplasms: transformation through presentation.0
169186862006Pax5--a critical inhibitor of plasma cell fate.0
107129462000Lineage commitment in lymphopoiesis.0
171026262006Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation.0
113422982001Pax5 determines the identity of B cells from the beginning to the end of B-lymphopoiesis.0
174404522007Pax5: the guardian of B cell identity and function.0
348724752022PAX5 Haploinsufficiency Induces Low T Cell Infiltration in the Cancer Microenvironment via Reduced Chemokines.0
179989142008The regulation of the B-cell gene expression programme by Pax5.0
104300251999Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes?0
164645662006Transcription factors drive B cell development.0
364847352023FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients.0
112322871999Differentiation, dedifferentiation, and redifferentiation of B-lineage lymphocytes: roles of the surrogate light chain and the Pax5 gene.0
363516492022[PAX5-positive plasma cell leukemia presenting as lymphocytosis].0
123666852002Stability and plasticity of wild-type and Pax5-deficient precursor B cells.0
120214902002Plasticity of Pax-5(-/-) pre-B I cells.0
106075841999B-cell commitment: Pax5 is the deciding factor.0
217075072011Coordinated expression of Pax-5 and FAK1 in metastasis.0
244351672014Functional heterogeneity of PAX5 chimeras reveals insight for leukemia development.0
371495402023EBF1-JAK2 inhibits the PAX5 function through physical interaction with PAX5 and kinase activity.0
120080322002In vitro and in vivo plasticity of Pax5-deficient pre-B I cells.0
212177752011PAX5-PML acts as a dual dominant-negative form of both PAX5 and PML.0
196414532009PAX5 expression in rhabdomyosarcoma.0
107843872000The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.0
395924702024Recurrent PAX5::ZCCHC7 rearrangement in B-cell acute lymphoblastic leukemia.0
344254702021PAX5 haploinsufficiency induced CD8+ T cells dysfunction or exhaustion by high expression of immune inhibitory-related molecules.0
152016122004The origins of osteoclasts.0
371261842023PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma.0
291344202018Co-Localization and Interaction of Pax5 with Iba1 in Brain of Mice.0
221279212011The Pax-5 gene: a pluripotent regulator of B-cell differentiation and cancer disease.0
276232042016Expression of SOX11, PAX5, TTF-1 and ISL-1 in medulloblastoma.0
261154222015PAX5 alterations in genetically unclassified childhood Precursor B-cell acute lymphoblastic leukaemia.0
390978852024Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions.0
271221872016PAX5 interacts with RIP2 to promote NF-κB activation and drug-resistance in B-lymphoproliferative disorders.0
176639802007"Hands-on" regulation of B cell development by the transcription factor Pax5.0
159676782005Deficient B lymphopoiesis in murine senescence: potential roles for dysregulation of E2A, Pax-5, and STAT5.0
359262902022The utility of PAX8 in comparison with PAX5 immunohistochemical staining in the diagnosis of Hodgkin lymphoma.0
381897772024A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity.0
94423941997Essential functions of Pax-5 (BSAP) in pro-B cell development.0
359027332022Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants.0
294539732018PAX5 haploinsufficiency induce cancer cell dormancy in Raji cells.0
170165842006Overexpression of PAX5 in oral carcinogenesis.0
367307542023PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway.0

Article Bibliography

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

Citation

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)