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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

Yasuda T, Sanada M, Nishijima D, Kanamori T, Iijima Y, Hattori H, Saito A, Miyoshi H, Ishikawa Y, Asou N, Usuki K, Hirabayashi S, Kato M, Ri M, Handa H, Ishida T, Shibayama H, Abe M, Iriyama C, Karube K, Nishikori M, Ohshima K, Kataoka K, Yoshida K, Shiraishi Y, Goto H, Adachi S, Kobayashi R, Kiyoi H, Miyazaki Y, Ogawa S, Kurahashi H, Yokoyama H, Manabe A, Iida S, Tomita A, Horibe K
Cancer Sci 2020 Sep;111(9):3367-3378. Epub 2020 Jul 17 doi: 10.1111/cas.14552. PMID: 32619037Free PMC Article
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

Recent clinical studies

Etiology

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
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
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
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

Diagnosis

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
Hao Q, Cao M, Zhang C, Yin D, Wang Y, Ye Y, Zhao S, Yang Y, Chen KL, Ying B, Wang L, Zhang Y, Xu C, Zhu Y, Wu Y, Gao J, Zhao JN, Zhang Y, Lu X
Aging (Albany NY) 2021 Apr 23;13(9):12456-12465. doi: 10.18632/aging.202903. PMID: 33891562Free 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
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
Armenian S, Bhatia S
Am Soc Clin Oncol Educ Book 2018 May 23;38:3-12. doi: 10.1200/EDBK_100015. PMID: 30231396

Therapy

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
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
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
Bhatia S
Semin Oncol 2013 Dec;40(6):666-75. doi: 10.1053/j.seminoncol.2013.09.013. PMID: 24331189Free PMC Article

Prognosis

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
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
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
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

Clinical prediction guides

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
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
Auer F, Ingenhag D, Bhatia S, Enczmann J, Cobaleda C, Sanchez-Garcia I, Borkhardt A, Hauer J
Eur J Med Genet 2016 Mar;59(3):166-72. Epub 2015 Nov 26 doi: 10.1016/j.ejmg.2015.11.009. PMID: 26626503
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

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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