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Leukemia, acute lymphoblastic, susceptibility to, 3(ALL3)

MedGen UID:
816204
•Concept ID:
C3809874
•
Finding
Synonym: ALL3
 
Gene (location): PAX5 (9p13.2)
 
Monarch Initiative: MONDO:0014241
OMIM®: 615545

Definition

An inherited condition caused by mutation(s) in the PAX5 gene, encoding paired box protein Pax-5. The condition is characterized by an increased risk of developing B-cell acute lymphoblastic leukemia. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLeukemia, acute lymphoblastic, susceptibility to, 3
Follow this link to review classifications for Leukemia, acute lymphoblastic, susceptibility to, 3 in Orphanet.

Professional guidelines

PubMed

Recent Advances in the Management of Acute Lymphoblastic Leukaemia.
Hodby KA, Marks DI
Curr Treat Options Oncol 2020 Feb 20;21(3):23. doi: 10.1007/s11864-020-0712-8. PMID: 32095902
Treatment-related toxicities in children with acute lymphoblastic leukaemia predisposition syndromes.
Schmiegelow K
Eur J Med Genet 2016 Dec;59(12):654-660. Epub 2016 Feb 11 doi: 10.1016/j.ejmg.2016.02.006. PMID: 26876989
The management of neoplastic disorders of haematopoiesis in children with Down's syndrome.
Lange B
Br J Haematol 2000 Sep;110(3):512-24. doi: 10.1046/j.1365-2141.2000.02027.x. PMID: 10997960

Recent clinical studies

Etiology

Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ
Am J Hum Genet 2021 Oct 7;108(10):1823-1835. Epub 2021 Aug 31 doi: 10.1016/j.ajhg.2021.08.004. PMID: 34469753Free 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
Blastic Plasmacytoid Dendritic Cell Neoplasm in Children.
Li Y, Sun V, Sun W, Pawlowska A
Hematol Oncol Clin North Am 2020 Jun;34(3):601-612. Epub 2020 Mar 9 doi: 10.1016/j.hoc.2020.01.008. PMID: 32336423
Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia.
Bloom M, Maciaszek JL, Clark ME, Pui CH, Nichols KE
Expert Rev Hematol 2020 Jan;13(1):55-70. Epub 2019 Nov 19 doi: 10.1080/17474086.2020.1685866. PMID: 31657974Free PMC Article
Varicella in a Previously Immune Patient With Leukemia.
Sewnarine M, Rajan S, Redner A, Rubin LG
J Pediatric Infect Dis Soc 2017 Jun 1;6(2):e4-e6. doi: 10.1093/jpids/piw078. PMID: 28339568

Diagnosis

Susceptibility of pediatric acute lymphoblastic leukemia to STAT3 inhibition depends on p53 induction.
Gasparoli L, Virely C, Tsakaneli A, Che N, Edwards D, Bartram J, Hubank M, Pal D, Heidenreich O, Martens JHA, De Boer J, Williams O
Haematologica 2024 Apr 1;109(4):1069-1081. doi: 10.3324/haematol.2023.283613. PMID: 37794795Free PMC Article
Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia.
Downes CEJ, Rehn J, Heatley SL, Yeung D, McClure BJ, White DL
Br J Haematol 2022 Feb;196(3):700-705. Epub 2021 Oct 25 doi: 10.1111/bjh.17910. PMID: 34697799
Blastic Plasmacytoid Dendritic Cell Neoplasm in Children.
Li Y, Sun V, Sun W, Pawlowska A
Hematol Oncol Clin North Am 2020 Jun;34(3):601-612. Epub 2020 Mar 9 doi: 10.1016/j.hoc.2020.01.008. PMID: 32336423
Recent advances in genetic predisposition to pediatric acute lymphoblastic leukemia.
Bloom M, Maciaszek JL, Clark ME, Pui CH, Nichols KE
Expert Rev Hematol 2020 Jan;13(1):55-70. Epub 2019 Nov 19 doi: 10.1080/17474086.2020.1685866. PMID: 31657974Free PMC Article
Long Non-Coding RNA and Acute Leukemia.
Cruz-Miranda GM, Hidalgo-Miranda A, Bárcenas-López DA, Núñez-Enríquez JC, Ramírez-Bello J, Mejía-Aranguré JM, Jiménez-Morales S
Int J Mol Sci 2019 Feb 9;20(3) doi: 10.3390/ijms20030735. PMID: 30744139Free PMC Article

Therapy

Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ
Am J Hum Genet 2021 Oct 7;108(10):1823-1835. Epub 2021 Aug 31 doi: 10.1016/j.ajhg.2021.08.004. PMID: 34469753Free PMC Article
Precursor T-Lymphoblastic Lymphoma Associated with t(8;9)(p11.2;q33): A Case Report and Review of the Literature.
Lv H, Hu S, Lu J, Zhai Q, Zhai Z, Du Z, Sun Y, Li J, He H, Wang Y
Acta Haematol 2018;139(3):176-182. Epub 2018 Apr 4 doi: 10.1159/000481392. PMID: 29614500
Varicella in a Previously Immune Patient With Leukemia.
Sewnarine M, Rajan S, Redner A, Rubin LG
J Pediatric Infect Dis Soc 2017 Jun 1;6(2):e4-e6. doi: 10.1093/jpids/piw078. PMID: 28339568
Methotrexate-induced neurotoxicity and leukoencephalopathy in childhood acute lymphoblastic leukemia.
Bhojwani D, Sabin ND, Pei D, Yang JJ, Khan RB, Panetta JC, Krull KR, Inaba H, Rubnitz JE, Metzger ML, Howard SC, Ribeiro RC, Cheng C, Reddick WE, Jeha S, Sandlund JT, Evans WE, Pui CH, Relling MV
J Clin Oncol 2014 Mar 20;32(9):949-59. Epub 2014 Feb 18 doi: 10.1200/JCO.2013.53.0808. PMID: 24550419Free PMC Article
Outcome of Down syndrome associated acute lymphoblastic leukaemia treated on a contemporary protocol.
Patrick K, Wade R, Goulden N, Rowntree C, Hough R, Moorman AV, Mitchell CD, Vora A
Br J Haematol 2014 May;165(4):552-5. Epub 2014 Jan 15 doi: 10.1111/bjh.12739. PMID: 24428704

Prognosis

Identification of a novel GOLGA4-JAK2 fusion gene in B-cell acute lymphoblastic leukaemia.
Downes CEJ, Rehn J, Heatley SL, Yeung D, McClure BJ, White DL
Br J Haematol 2022 Feb;196(3):700-705. Epub 2021 Oct 25 doi: 10.1111/bjh.17910. PMID: 34697799
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ
Am J Hum Genet 2021 Oct 7;108(10):1823-1835. Epub 2021 Aug 31 doi: 10.1016/j.ajhg.2021.08.004. PMID: 34469753Free PMC Article
Pharmacogenomics in acute lymphoblastic leukemia.
Lee SHR, Yang JJ
Best Pract Res Clin Haematol 2017 Sep;30(3):229-236. Epub 2017 Jul 27 doi: 10.1016/j.beha.2017.07.007. PMID: 29050696
Methotrexate-induced neurotoxicity and leukoencephalopathy in childhood acute lymphoblastic leukemia.
Bhojwani D, Sabin ND, Pei D, Yang JJ, Khan RB, Panetta JC, Krull KR, Inaba H, Rubnitz JE, Metzger ML, Howard SC, Ribeiro RC, Cheng C, Reddick WE, Jeha S, Sandlund JT, Evans WE, Pui CH, Relling MV
J Clin Oncol 2014 Mar 20;32(9):949-59. Epub 2014 Feb 18 doi: 10.1200/JCO.2013.53.0808. PMID: 24550419Free PMC Article
Outcome of Down syndrome associated acute lymphoblastic leukaemia treated on a contemporary protocol.
Patrick K, Wade R, Goulden N, Rowntree C, Hough R, Moorman AV, Mitchell CD, Vora A
Br J Haematol 2014 May;165(4):552-5. Epub 2014 Jan 15 doi: 10.1111/bjh.12739. PMID: 24428704

Clinical prediction guides

Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia.
Kachuri L, Jeon S, DeWan AT, Metayer C, Ma X, Witte JS, Chiang CWK, Wiemels JL, de Smith AJ
Am J Hum Genet 2021 Oct 7;108(10):1823-1835. Epub 2021 Aug 31 doi: 10.1016/j.ajhg.2021.08.004. PMID: 34469753Free PMC Article
Predicting and Preventing Anthracycline-Related Cardiotoxicity.
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Pharmacogenomics in acute lymphoblastic leukemia.
Lee SHR, Yang JJ
Best Pract Res Clin Haematol 2017 Sep;30(3):229-236. Epub 2017 Jul 27 doi: 10.1016/j.beha.2017.07.007. PMID: 29050696
Familial risks for childhood acute lymphocytic leukaemia in Sweden and Finland: far exceeding the effects of known germline variants.
Kharazmi E, da Silva Filho MI, Pukkala E, Sundquist K, Thomsen H, Hemminki K
Br J Haematol 2012 Dec;159(5):585-8. Epub 2012 Oct 1 doi: 10.1111/bjh.12069. PMID: 23025517
Therapy-related myeloid neoplasms.
Leone G, Fianchi L, Voso MT
Curr Opin Oncol 2011 Nov;23(6):672-80. doi: 10.1097/CCO.0b013e32834bcc2a. PMID: 21918440

Recent systematic reviews

Occurrence of Kawasaki disease and neoplasms in temporal proximity-single-center experience and systematic review of literature.
Banday AZ, Babbar A, Patra PK, Jindal AK, Suri D, Pandiarajan V, Rawat A, Gupta A, Singh S
J Trop Pediatr 2023 Apr 5;69(3) doi: 10.1093/tropej/fmad022. PMID: 37608506
Association Between SHMT1 rs1979277 Polymorphism and Risk of Acute Lymphoblastic Leukemia: A Systematic Review and Meta-analysis.
Yang QQ, Zhang Y, Yang J
J Pediatr Hematol Oncol 2022 Apr 1;44(3):e616-e622. doi: 10.1097/MPH.0000000000002173. PMID: 33974584
Cranial radiation for pediatric T-lineage acute lymphoblastic leukemia: a systematic review and meta-analysis.
Kelly MJ, Trikalinos TA, Dahabreh IJ, Gianferante M, Parsons SK
Am J Hematol 2014 Oct;89(10):992-7. Epub 2014 Jul 22 doi: 10.1002/ajh.23784. PMID: 24912665Free PMC Article
Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.
Vijayakrishnan J, Houlston RS
Haematologica 2010 Aug;95(8):1405-14. Epub 2010 May 29 doi: 10.3324/haematol.2010.022095. PMID: 20511665Free PMC Article
DNA repair gene XPD polymorphisms and cancer risk: a meta-analysis based on 56 case-control studies.
Wang F, Chang D, Hu FL, Sui H, Han B, Li DD, Zhao YS
Cancer Epidemiol Biomarkers Prev 2008 Mar;17(3):507-17. doi: 10.1158/1055-9965.EPI-07-2507. PMID: 18349268

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