dic(9;16)(p13;q11) PAX5/?
2014-04-01 Jean-Loup Huret Affiliation1.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.
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 ID | Year | Title | Citations |
|---|---|---|---|
| 36077495 | 2022 | The Pleiotropy of PAX5 Gene Products and Function. | 198 |
| 25123279 | 2014 | The regulatory network of B-cell differentiation: a focused view of early B-cell factor 1 function. | 138 |
| 38318177 | 2024 | EBF1, PAX5, and MYC: regulation on B cell development and association with hematologic neoplasms. | 136 |
| 39183332 | 2024 | Understanding the function of Pax5 in development of docetaxel-resistant neuroendocrine-like prostate cancers. | 100 |
| 35947077 | 2022 | Biallelic PAX5 mutations cause hypogammaglobulinemia, sensorimotor deficits, and autism spectrum disorder. | 96 |
| 38168280 | 2023 | Understanding the role of Pax5 in development of taxane-resistant neuroendocrine like prostate cancers. | 96 |
| 38926764 | 2024 | Exploring the oncogenic potential of circSOD2 in clear cell renal cell carcinoma: a novel positive feedback loop. | 87 |
| 36387144 | 2022 | PAX5 alterations in B-cell acute lymphoblastic leukemia. | 86 |
| 34301800 | 2021 | Pax5 regulates B cell immunity by promoting PI3K signaling via PTEN down-regulation. | 86 |
| 37335685 | 2023 | PAX5 fusion genes in acute lymphoblastic leukemia: A literature review. | 81 |
| 37725138 | 2023 | Essential role of the Pax5 C-terminal domain in controlling B cell commitment and development. | 77 |
| 37620322 | 2023 | Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice. | 74 |
| 30216339 | 2018 | Activating PAX gene family paralogs to complement PAX5 leukemia driver mutations. | 73 |
| 36656641 | 2023 | Type 2 diabetes candidate genes, including PAX5, cause impaired insulin secretion in human pancreatic islets. | 70 |
| 35156727 | 2022 | The PAX5-JAK2 translocation acts as dual-hit mutation that promotes aggressive B-cell leukemia via nuclear STAT5 activation. | 69 |
| 33154497 | 2020 | Inhibition of inflammatory signaling in Pax5 mutant cells mitigates B-cell leukemogenesis. | 66 |
| 30643249 | 2019 | PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia. | 65 |
| 36516256 | 2022 | PAX5 epigenetically orchestrates CD58 transcription and modulates blinatumomab response in acute lymphoblastic leukemia. | 65 |
| 38866979 | 2024 | The transcription factor PAX5 activates human LINE1 retrotransposons to induce cellular senescence. | 63 |
| 25855603 | 2015 | PAX5 is a tumor suppressor in mouse mutagenesis models of acute lymphoblastic leukemia. | 62 |
| 39424985 | 2024 | A SIRT7-dependent acetylation switch regulates early B cell differentiation and lineage commitment through Pax5. | 59 |
| 36064939 | 2022 | The MBNL1/circNTRK2/PAX5 pathway regulates aerobic glycolysis in glioblastoma cells by encoding a novel protein NTRK2-243aa. | 52 |
| 31941781 | 2020 | B Cell-Specific Transcription Activator PAX5 Recruits p300 To Support EBNA1-Driven Transcription. | 52 |
| 31381561 | 2019 | PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia. | 50 |
| 37221950 | 2023 | PAX5 and circ1857 affected DLBCL progression and B-cell proliferation through regulating GINS1. | 49 |
| 39256480 | 2024 | Rack1 regulates B-cell development and function by binding to and stabilizing the transcription factor Pax5. | 48 |
| 29713018 | 2018 | A PAX5-OCT4-PRDM1 developmental switch specifies human primordial germ cells. | 48 |
| 39096792 | 2024 | PAX5 functions as a tumor suppressor by RB-E2F-mediated cell cycle arrest in Kaposi sarcoma-associated herpesvirus-infected primary effusion lymphoma. | 47 |
| 33619557 | 2021 | EBF1 and PAX5 control pro-B cell expansion via opposing regulation of the Myc gene. | 46 |
| 21357426 | 2011 | Histone acetyltransferase p300 acetylates Pax5 and strongly enhances Pax5-mediated transcriptional activity. | 45 |
| 37403081 | 2023 | PAX5-miR-142 feedback loop promotes breast cancer proliferation by regulating DNMT1 and ZEB1. | 44 |
| 34824296 | 2021 | Pax5 mediates the transcriptional activation of the CD81 gene. | 43 |
| 28219927 | 2017 | Molecular role of the PAX5-ETV6 oncoprotein in promoting B-cell acute lymphoblastic leukemia. | 43 |
| 37184294 | 2023 | BET inhibition targets ABC-DLBCL constitutive B-cell receptor signaling through PAX5. | 41 |
| 21765475 | 2012 | Dominant-negative mechanism of leukemogenic PAX5 fusions. | 41 |
| 24858437 | 2014 | Nasopharyngeal tonsils (adenoids) contain extrathymic corticothymocytes. | 41 |
| 35985167 | 2022 | PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120. | 40 |
| 28192788 | 2017 | Metabolic gatekeeper function of B-lymphoid transcription factors. | 38 |
| 38348125 | 2024 | Paired Box 5 (PAX5) Gene Has Diagnostic and Prognostic Potential in Nasopharyngeal Carcinoma. | 38 |
| 38776375 | 2024 | SUMO-specific protease 1 regulates germinal center B cell response through deSUMOylation of PAX5. | 37 |
| 33672551 | 2021 | Pax5 Negatively Regulates Osteoclastogenesis through Downregulation of Blimp1. | 37 |
| 30257940 | 2018 | PAX5-ELN oncoprotein promotes multistep B-cell acute lymphoblastic leukemia in mice. | 37 |
| 25595912 | 2015 | LCK over-expression drives STAT5 oncogenic signaling in PAX5 translocated BCP-ALL patients. | 36 |
| 7777574 | 1995 | Deregulated expression of PAX5 in medulloblastoma. | 30 |
| 27748274 | 2016 | Level of PAX5 in differential diagnosis of non-Hodgkin's lymphoma. | 29 |
| 35094443 | 2022 | Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. | 27 |
| 35264043 | 2022 | Pax5 and CD3 immunophenotyping of lymphoma in 2 central bearded dragons. | 19 |
| 34531928 | 2006 | dic(7;9)(p11-13;p11). | 16 |
| 35467057 | 2022 | PAX5 alterations in an infant case of KMT2A-rearranged leukemia with lineage switch. | 15 |
| 39256601 | 2024 | Diverse mechanisms of leukemogenesis associated with PAX5 germline mutation. | 15 |
| 22578776 | 2012 | PAX5-AUTS2: a recurrent fusion gene in childhood B-cell precursor acute lymphoblastic leukemia. | 8 |
| 35460405 | 2022 | IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large Cell Lymphomas. | 6 |
| 39179932 | 2024 | Transcriptional function of E2A, Ebf1, Pax5, Ikaros and Aiolos analyzed by in vivo acute protein degradation in early B cell development. | 0 |
| 17717432 | 2007 | Diagnostic uses of Pax5 immunohistochemistry. | 0 |
| 21970955 | 2011 | Pax5: a master regulator of B cell development and leukemogenesis. | 0 |
| 18293359 | 2008 | Losing B cell identity. | 0 |
| 25428382 | 2015 | The role of Pax5 in leukemia: diagnosis and prognosis significance. | 0 |
| 26626503 | 2016 | GEMMs addressing Pax5 loss-of-function in childhood pB-ALL. | 0 |
| 18240995 | 2008 | PAX5 and B-cell neoplasms: transformation through presentation. | 0 |
| 16918686 | 2006 | Pax5--a critical inhibitor of plasma cell fate. | 0 |
| 10712946 | 2000 | Lineage commitment in lymphopoiesis. | 0 |
| 17102626 | 2006 | Pax5 maintains cellular identity by repressing gene expression throughout B cell differentiation. | 0 |
| 11342298 | 2001 | Pax5 determines the identity of B cells from the beginning to the end of B-lymphopoiesis. | 0 |
| 17440452 | 2007 | Pax5: the guardian of B cell identity and function. | 0 |
| 34872475 | 2022 | PAX5 Haploinsufficiency Induces Low T Cell Infiltration in the Cancer Microenvironment via Reduced Chemokines. | 0 |
| 17998914 | 2008 | The regulation of the B-cell gene expression programme by Pax5. | 0 |
| 10430025 | 1999 | Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes? | 0 |
| 16464566 | 2006 | Transcription factors drive B cell development. | 0 |
| 36484735 | 2023 | FOXO1 and PAX5 Rearrangement in Alveolar Rhabdomyosarcoma in Saudi Pediatric Patients. | 0 |
| 11232287 | 1999 | Differentiation, dedifferentiation, and redifferentiation of B-lineage lymphocytes: roles of the surrogate light chain and the Pax5 gene. | 0 |
| 36351649 | 2022 | [PAX5-positive plasma cell leukemia presenting as lymphocytosis]. | 0 |
| 12366685 | 2002 | Stability and plasticity of wild-type and Pax5-deficient precursor B cells. | 0 |
| 12021490 | 2002 | Plasticity of Pax-5(-/-) pre-B I cells. | 0 |
| 10607584 | 1999 | B-cell commitment: Pax5 is the deciding factor. | 0 |
| 21707507 | 2011 | Coordinated expression of Pax-5 and FAK1 in metastasis. | 0 |
| 24435167 | 2014 | Functional heterogeneity of PAX5 chimeras reveals insight for leukemia development. | 0 |
| 37149540 | 2023 | EBF1-JAK2 inhibits the PAX5 function through physical interaction with PAX5 and kinase activity. | 0 |
| 12008032 | 2002 | In vitro and in vivo plasticity of Pax5-deficient pre-B I cells. | 0 |
| 21217775 | 2011 | PAX5-PML acts as a dual dominant-negative form of both PAX5 and PML. | 0 |
| 19641453 | 2009 | PAX5 expression in rhabdomyosarcoma. | 0 |
| 10784387 | 2000 | The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma. | 0 |
| 39592470 | 2024 | Recurrent PAX5::ZCCHC7 rearrangement in B-cell acute lymphoblastic leukemia. | 0 |
| 34425470 | 2021 | PAX5 haploinsufficiency induced CD8+ T cells dysfunction or exhaustion by high expression of immune inhibitory-related molecules. | 0 |
| 15201612 | 2004 | The origins of osteoclasts. | 0 |
| 37126184 | 2023 | PAX5 aberrant expression incorporated in MIPI-SP risk scoring system exhibits additive value in mantle cell lymphoma. | 0 |
| 29134420 | 2018 | Co-Localization and Interaction of Pax5 with Iba1 in Brain of Mice. | 0 |
| 22127921 | 2011 | The Pax-5 gene: a pluripotent regulator of B-cell differentiation and cancer disease. | 0 |
| 27623204 | 2016 | Expression of SOX11, PAX5, TTF-1 and ISL-1 in medulloblastoma. | 0 |
| 26115422 | 2015 | PAX5 alterations in genetically unclassified childhood Precursor B-cell acute lymphoblastic leukaemia. | 0 |
| 39097885 | 2024 | Diagnostic efficacy of SEPT9 and PAX5 gene methylation in gastrointestinal cancer and precancerous lesions. | 0 |
| 27122187 | 2016 | PAX5 interacts with RIP2 to promote NF-κB activation and drug-resistance in B-lymphoproliferative disorders. | 0 |
| 17663980 | 2007 | "Hands-on" regulation of B cell development by the transcription factor Pax5. | 0 |
| 15967678 | 2005 | Deficient B lymphopoiesis in murine senescence: potential roles for dysregulation of E2A, Pax-5, and STAT5. | 0 |
| 35926290 | 2022 | The utility of PAX8 in comparison with PAX5 immunohistochemical staining in the diagnosis of Hodgkin lymphoma. | 0 |
| 38189777 | 2024 | A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity. | 0 |
| 9442394 | 1997 | Essential functions of Pax-5 (BSAP) in pro-B cell development. | 0 |
| 35902733 | 2022 | Clinical and immunophenotypic characteristics of familial leukemia predisposition caused by PAX5 germline variants. | 0 |
| 29453973 | 2018 | PAX5 haploinsufficiency induce cancer cell dormancy in Raji cells. | 0 |
| 17016584 | 2006 | Overexpression of PAX5 in oral carcinogenesis. | 0 |
| 36730754 | 2023 | PAX5/ITGAX Contributed to the Progression of Atherosclerosis by Regulation of B Differentiation via TNF-α Signaling Pathway. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 17440452 | 2007 | Pax5: the guardian of B cell identity and function. | Cobaleda C et al |
| 20160164 | 2010 | Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study. | Coyaud E et al |
| 15004008 | 2004 | Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene. | Fuxa M et al |
| 15258579 | 2004 | B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5. | Johnson K et al |
| 21970955 | 2011 | Pax5: a master regulator of B cell development and leukemogenesis. | Medvedovic J et al |
| 16680144 | 2006 | Transcription 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
