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PAX5 Protein Variant

MedGen UID:
1683899
•Concept ID:
C4764075
•
Cell or Molecular Dysfunction
Synonyms: B-Cell Lineage Specific Activator Protein Variant; B-Cell Specific Transcription Factor Protein Variant; BSAP Protein Variant; Paired Box Protein Pax-5 Protein Variant

Definition

A variation in the amino acid sequence for paired box protein Pax-5. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPAX5 Protein Variant

Professional guidelines

PubMed

Clinicopathologic characteristics, genetic features, and treatment options for acute lymphoblastic leukemia with JAK2 rearrangement-A 10-case study and literature review.
Zhang L, Shah B, Zhang Y, Tashkandi H, Xiao W, Fernandez-Pol S, Vergara-Lluri M, Hussaini M, Song J, Lancet J, Moscinski L, Yun S, Lu CM, Medeiros LJ, Tang G
Hum Pathol 2023 Jun;136:1-15. Epub 2023 Mar 22 doi: 10.1016/j.humpath.2023.03.002. PMID: 36958463
In-depth Genetic Analysis of Sclerosing Epithelioid Fibrosarcoma Reveals Recurrent Genomic Alterations and Potential Treatment Targets.
Arbajian E, Puls F, Antonescu CR, Amary F, Sciot R, Debiec-Rychter M, Sumathi VP, Järås M, Magnusson L, Nilsson J, Hofvander J, Mertens F
Clin Cancer Res 2017 Dec 1;23(23):7426-7434. Epub 2017 Sep 22 doi: 10.1158/1078-0432.CCR-17-1856. PMID: 28939748
PAX-5: a valuable immunohistochemical marker in the differential diagnosis of lymphoid neoplasms.
Desouki MM, Post GR, Cherry D, Lazarchick J
Clin Med Res 2010 Jul;8(2):84-8. doi: 10.3121/cmr.2010.891. PMID: 20660931Free PMC Article

Recent clinical studies

Etiology

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia.
Nishii R, Baskin-Doerfler R, Yang W, Oak N, Zhao X, Yang W, Hoshitsuki K, Bloom M, Verbist K, Burns M, Li Z, Lin TN, Qian M, Moriyama T, Gastier-Foster JM, Rabin KR, Raetz E, Mullighan C, Pui CH, Yeoh AE, Zhang J, Metzger ML, Klco JM, Hunger SP, Newman S, Wu G, Loh ML, Nichols KE, Yang JJ
Blood 2021 Jan 21;137(3):364-373. doi: 10.1182/blood.2020006164. PMID: 32693409Free PMC Article
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article

Diagnosis

Emerging molecular subtypes and therapies in acute lymphoblastic leukemia.
Davis K, Sheikh T, Aggarwal N
Semin Diagn Pathol 2023 May;40(3):202-215. Epub 2023 Apr 9 doi: 10.1053/j.semdp.2023.04.003. PMID: 37120350
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Immunohistochemistry Innovations for Diagnosis and Tissue-Based Biomarker Detection.
Sukswai N, Khoury JD
Curr Hematol Malig Rep 2019 Oct;14(5):368-375. doi: 10.1007/s11899-019-00533-9. PMID: 31338668
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article

Therapy

Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
A multicenter total therapy strategy for de novo adult Philadelphia chromosome positive acute lymphoblastic leukemia patients: final results of the GIMEMA LAL1509 protocol.
Chiaretti S, Ansuinelli M, Vitale A, Elia L, Matarazzo M, Piciocchi A, Fazi P, Di Raimondo F, Santoro L, Fabbiano F, Califano C, Martinelli G, Ronco F, Ferrara F, Cascavilla N, Bigazzi C, Tedeschi A, Sica S, Di Renzo N, Melpignano A, Beltrami G, Vignetti M, Foa R
Haematologica 2021 Jul 1;106(7):1828-1838. doi: 10.3324/haematol.2020.260935. PMID: 33538150Free PMC Article
High frequency of intermediate and poor risk copy number abnormalities in pediatric cohort of B-ALL correlate with high MRD post induction.
Singh M, Bhatia P, Trehan A, Varma N, Sachdeva MS, Bansal D, Jain R, Naseem S
Leuk Res 2018 Mar;66:79-84. Epub 2018 Feb 3 doi: 10.1016/j.leukres.2018.01.012. PMID: 29407587
The correlation between Pax5 deletion and patients survival in Iranian children with precursor B-cell acute lymphocytic leukemia.
Moafi A, Zojaji A, Salehi R, Najafi Dorcheh S, Rahgozar S
Cell Mol Biol (Noisy-le-grand) 2017 Aug 30;63(8):19-22. doi: 10.14715/cmb/2017.63.8.4. PMID: 28886309

Prognosis

Relationship between BCL2 mutations and follicular lymphoma outcome in the chemoimmunotherapy era.
Correia C, Maurer MJ, McDonough SJ, Schneider PA, Ross PE, Novak AJ, Feldman AL, Cerhan JR, Slager SL, Witzig TE, Eckloff BW, Li H, Nowakowski GS, Kaufmann SH
Blood Cancer J 2023 May 17;13(1):81. doi: 10.1038/s41408-023-00847-1. PMID: 37193683Free PMC Article
Immunophenotypic and genomic landscape of Richter transformation diffuse large B-cell lymphoma.
El Hussein S, Medeiros LJ, Lyapichev KA, Fang H, Jelloul FZ, Fiskus W, Chen J, Wei P, Schlette E, Xu J, Li S, Kanagal-Shamanna R, Yang H, Tang Z, Thakral B, Loghavi S, Jain N, Thompson PA, Ferrajoli A, Wierda WG, Jabbour E, Patel KP, Dabaja BS, Bhalla KN, Khoury JD
Pathology 2023 Jun;55(4):514-524. Epub 2023 Feb 25 doi: 10.1016/j.pathol.2022.12.354. PMID: 36933995
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Molecular classification improves risk assessment in adult BCR-ABL1-negative B-ALL.
Paietta E, Roberts KG, Wang V, Gu Z, Buck GAN, Pei D, Cheng C, Levine RL, Abdel-Wahab O, Cheng Z, Wu G, Qu C, Shi L, Pounds S, Willman CL, Harvey R, Racevskis J, Barinka J, Zhang Y, Dewald GW, Ketterling RP, Alejos D, Lazarus HM, Luger SM, Foroni L, Patel B, Fielding AK, Melnick A, Marks DI, Moorman AV, Wiernik PH, Rowe JM, Tallman MS, Goldstone AH, Mullighan CG, Litzow MR
Blood 2021 Sep 16;138(11):948-958. doi: 10.1182/blood.2020010144. PMID: 33895809Free PMC Article
Transcriptional landscape of B cell precursor acute lymphoblastic leukemia based on an international study of 1,223 cases.
Li JF, Dai YT, Lilljebjörn H, Shen SH, Cui BW, Bai L, Liu YF, Qian MX, Kubota Y, Kiyoi H, Matsumura I, Miyazaki Y, Olsson L, Tan AM, Ariffin H, Chen J, Takita J, Yasuda T, Mano H, Johansson B, Yang JJ, Yeoh AE, Hayakawa F, Chen Z, Pui CH, Fioretos T, Chen SJ, Huang JY
Proc Natl Acad Sci U S A 2018 Dec 11;115(50):E11711-E11720. Epub 2018 Nov 28 doi: 10.1073/pnas.1814397115. PMID: 30487223Free PMC Article

Clinical prediction guides

Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
Flerlage JE, Myers JR, Maciaszek JL, Oak N, Rashkin SR, Hui Y, Wang YD, Chen W, Wu G, Chang TC, Hamilton K, Tithi SS, Goldin LR, Rotunno M, Caporaso N, Vogt A, Flamish D, Wyatt K, Liu J, Tucker M, Hahn CN, Brown AL, Scott HS, Mullighan C, Nichols KE, Metzger ML, McMaster ML, Yang JJ, Rampersaud E
Blood 2023 Mar 16;141(11):1293-1307. doi: 10.1182/blood.2022016056. PMID: 35977101Free PMC Article
Multi-Cohort Transcriptomic Subtyping of B-Cell Acute Lymphoblastic Leukemia.
Mäkinen VP, Rehn J, Breen J, Yeung D, White DL
Int J Mol Sci 2022 Apr 20;23(9) doi: 10.3390/ijms23094574. PMID: 35562965Free PMC Article
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency.
Gofin Y, Wang T, Gillentine MA, Scott TM, Berry AM, Azamian MS, Genetti C, Agrawal PB, Picker J, Wojcik MH, Delgado MR, Lynch SA, Scherer SW, Howe JL, Bacino CA, DiTroia S, VanNoy GE, O'Donnell-Luria A, Lalani SR, Graf WD, Rosenfeld JA, Eichler EE, Earl RK, Scott DA
Hum Mutat 2022 Apr;43(4):461-470. Epub 2022 Jan 30 doi: 10.1002/humu.24332. PMID: 35094443Free PMC Article
Forward and Reverse Genetics of B Cell Malignancies: From Insertional Mutagenesis to CRISPR-Cas.
Dawes JC, Uren AG
Front Immunol 2021;12:670280. Epub 2021 Aug 13 doi: 10.3389/fimmu.2021.670280. PMID: 34484175Free PMC Article
Cooperation of Pax2 and Pax5 in midbrain and cerebellum development.
Urbánek P, Fetka I, Meisler MH, Busslinger M
Proc Natl Acad Sci U S A 1997 May 27;94(11):5703-8. doi: 10.1073/pnas.94.11.5703. PMID: 9159136Free PMC Article

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