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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

Hodby KA, Marks DI
Curr Treat Options Oncol 2020 Feb 20;21(3):23. doi: 10.1007/s11864-020-0712-8. PMID: 32095902
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
Lupo PJ, Nousome D, Kamdar KY, Okcu MF, Scheurer ME
Cancer Causes Control 2012 Nov;23(11):1797-803. Epub 2012 Sep 1 doi: 10.1007/s10552-012-0058-z. PMID: 22941668Free PMC Article

Recent clinical studies

Etiology

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
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
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
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
Sinnett D, Krajinovic M, Labuda D
Leuk Lymphoma 2000 Aug;38(5-6):447-62. doi: 10.3109/10428190009059264. PMID: 10953966

Diagnosis

Shah N, Dahi PB, Ponce DM, Sauter CS, Shaffer BC, Chung DJ, Politikos I, Lin RJ, Giralt SA, Papanicolaou G, Ramanathan LV, Perales MA, Kamboj M, Shah GL, Gyurkocza B
Transplant Cell Ther 2022 Jan;28(1):55.e1-55.e5. Epub 2021 Oct 11 doi: 10.1016/j.jtct.2021.10.004. PMID: 34649021Free PMC Article
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
Cui Y, Hill AW
Clin Rev Allergy Immunol 2016 Dec;51(3):338-352. doi: 10.1007/s12016-016-8559-2. PMID: 27277132
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet 2016 Mar;59(3):126-32. Epub 2016 Jan 27 doi: 10.1016/j.ejmg.2016.01.007. PMID: 26826318
Javed F, Utreja A, Bello Correa FO, Al-Askar M, Hudieb M, Qayyum F, Al-Rasheed A, Almas K, Al-Hezaimi K
Crit Rev Oncol Hematol 2012 Sep;83(3):303-9. Epub 2011 Dec 3 doi: 10.1016/j.critrevonc.2011.11.003. PMID: 22137828

Therapy

Åttman E, Syrjänen J, Lyytikäinen O, Ollgren J, Sinisalo M, Vuento R, Mattila E, Huttunen R
Eur J Haematol 2021 Sep;107(3):311-317. Epub 2021 Jun 22 doi: 10.1111/ejh.13663. PMID: 33987847
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
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
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet 2016 Mar;59(3):126-32. Epub 2016 Jan 27 doi: 10.1016/j.ejmg.2016.01.007. PMID: 26826318
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

Prognosis

Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet 2016 Mar;59(3):126-32. Epub 2016 Jan 27 doi: 10.1016/j.ejmg.2016.01.007. PMID: 26826318
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
Sinnett D, Krajinovic M, Labuda D
Leuk Lymphoma 2000 Aug;38(5-6):447-62. doi: 10.3109/10428190009059264. PMID: 10953966
Zipursky A, Poon A, Doyle J
Pediatr Hematol Oncol 1992 Apr-Jun;9(2):139-49. doi: 10.3109/08880019209018329. PMID: 1388043

Clinical prediction guides

Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396
Cui Y, Hill AW
Clin Rev Allergy Immunol 2016 Dec;51(3):338-352. doi: 10.1007/s12016-016-8559-2. PMID: 27277132
Javed F, Utreja A, Bello Correa FO, Al-Askar M, Hudieb M, Qayyum F, Al-Rasheed A, Almas K, Al-Hezaimi K
Crit Rev Oncol Hematol 2012 Sep;83(3):303-9. Epub 2011 Dec 3 doi: 10.1016/j.critrevonc.2011.11.003. PMID: 22137828
Leone G, Fianchi L, Voso MT
Curr Opin Oncol 2011 Nov;23(6):672-80. doi: 10.1097/CCO.0b013e32834bcc2a. PMID: 21918440
Sinnett D, Krajinovic M, Labuda D
Leuk Lymphoma 2000 Aug;38(5-6):447-62. doi: 10.3109/10428190009059264. PMID: 10953966

Recent systematic reviews

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
Yang QQ, Zhang Y, Yang J
J Pediatr Hematol Oncol 2022 Apr 1;44(3):e616-e622. doi: 10.1097/MPH.0000000000002173. PMID: 33974584
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
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
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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