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Hyperdiploid B Acute Lymphoblastic Leukemia

MedGen UID:
394941
•Concept ID:
C2697636
•
Neoplastic Process
Synonyms: Hyperdiploid Acute Lymphoblastic Leukemia; Hyperdiploid ALL; Hyperdiploid B-Acute Lymphoblastic Leukemia; Hyperdiploid B-Cell Acute Lymphoblastic Leukemia

Definition

A B-cell acute leukemia characterized by the presence of lymphoblasts which contain more than 50 and usually less than 66 chromosomes. It is commonly seen in children and rarely in adults. It has a favorable clinical outcome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHyperdiploid B Acute Lymphoblastic Leukemia

Professional guidelines

PubMed

The Vitamin D Status in Children With Newly Diagnosed Acute Lymphoblastic Leukemia and Its Potential Impact on the Primary Symptoms of Leukemia and Course of Induction Treatment.
Malecka A, Hennig M, Jaworski R, Irga-Jaworska N
J Pediatr Hematol Oncol 2023 Jan 1;45(1):e4-e8. Epub 2022 Oct 19 doi: 10.1097/MPH.0000000000002579. PMID: 36598962
Overexpression of CD123 correlates with the hyperdiploid genotype in acute lymphoblastic leukemia.
Djokic M, Björklund E, Blennow E, Mazur J, Söderhäll S, Porwit A
Haematologica 2009 Jul;94(7):1016-9. Epub 2009 May 19 doi: 10.3324/haematol.2008.000299. PMID: 19454491Free PMC Article
Primary treatment of childhood acute lymphoblastic leukemia of non-T cell lineage (including infants).
Gaynon PS
Hematol Oncol Clin North Am 1990 Oct;4(5):915-36. PMID: 2262485

Recent clinical studies

Etiology

PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.
Fazio G, Bresolin S, Silvestri D, Quadri M, Saitta C, Vendramini E, Buldini B, Palmi C, Bardini M, Grioni A, Rigamonti S, Galbiati M, Mecca S, Savino AM, Peloso A, Tu JW, Bhatia S, Borkhardt A, Micalizzi C, Lo Nigro L, Locatelli F, Conter V, Rizzari C, Valsecchi MG, Te Kronnie G, Biondi A, Cazzaniga G
EBioMedicine 2022 Sep;83:104224. Epub 2022 Aug 16 doi: 10.1016/j.ebiom.2022.104224. PMID: 35985167Free PMC Article
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH, Langlois S, Meloche C, Caron M, Saint-Onge P, Rouette A, Bataille AR, Jimenez-Cortes C, Sontag T, Bittencourt H, Laverdière C, Lavallée VP, Leclerc JM, Cole PD, Gennarini LM, Kahn JM, Kelly KM, Michon B, Santiago R, Stevenson KE, Welch JJG, Schroeder KM, Koch V, Cellot S, Silverman LB, Sinnett D
Blood Adv 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634. PMID: 34933343Free 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
Precision medicine in acute lymphoblastic leukemia.
Pui CH
Front Med 2020 Dec;14(6):689-700. Epub 2020 Oct 19 doi: 10.1007/s11684-020-0759-8. PMID: 33074527Free PMC Article
Pediatric acute lymphoblastic leukemia.
Carroll WL, Bhojwani D, Min DJ, Raetz E, Relling M, Davies S, Downing JR, Willman CL, Reed JC
Hematology Am Soc Hematol Educ Program 2003:102-31. doi: 10.1182/asheducation-2003.1.102. PMID: 14633779

Diagnosis

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
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH, Langlois S, Meloche C, Caron M, Saint-Onge P, Rouette A, Bataille AR, Jimenez-Cortes C, Sontag T, Bittencourt H, Laverdière C, Lavallée VP, Leclerc JM, Cole PD, Gennarini LM, Kahn JM, Kelly KM, Michon B, Santiago R, Stevenson KE, Welch JJG, Schroeder KM, Koch V, Cellot S, Silverman LB, Sinnett D
Blood Adv 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634. PMID: 34933343Free 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
High hyperdiploid childhood acute lymphoblastic leukemia.
Paulsson K, Johansson B
Genes Chromosomes Cancer 2009 Aug;48(8):637-60. doi: 10.1002/gcc.20671. PMID: 19415723
Pediatric acute lymphoblastic leukemia.
Carroll WL, Bhojwani D, Min DJ, Raetz E, Relling M, Davies S, Downing JR, Willman CL, Reed JC
Hematology Am Soc Hematol Educ Program 2003:102-31. doi: 10.1182/asheducation-2003.1.102. PMID: 14633779

Therapy

Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH, Langlois S, Meloche C, Caron M, Saint-Onge P, Rouette A, Bataille AR, Jimenez-Cortes C, Sontag T, Bittencourt H, Laverdière C, Lavallée VP, Leclerc JM, Cole PD, Gennarini LM, Kahn JM, Kelly KM, Michon B, Santiago R, Stevenson KE, Welch JJG, Schroeder KM, Koch V, Cellot S, Silverman LB, Sinnett D
Blood Adv 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634. PMID: 34933343Free 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 markers in ALL: Clinical implications.
Kimura S, Mullighan CG
Best Pract Res Clin Haematol 2020 Sep;33(3):101193. Epub 2020 Jun 7 doi: 10.1016/j.beha.2020.101193. PMID: 33038982Free PMC Article
Bortezomib-containing therapy in Japanese children with relapsed acute lymphoblastic leukemia.
Hasegawa D, Yoshimoto Y, Kimura S, Kumamoto T, Maeda N, Hara J, Kikuta A, Kada A, Kimura T, Iijima-Yamashita Y, Saito AM, Horibe K, Manabe A, Ogawa C
Int J Hematol 2019 Nov;110(5):627-634. Epub 2019 Aug 10 doi: 10.1007/s12185-019-02714-x. PMID: 31401767
Acute Lymphoblastic Leukemia with Hypereosinophilia in a Child: Case Report and Literature Review.
Ferruzzi V, Santi E, Gurdo G, Arcioni F, Caniglia M, Esposito S
Int J Environ Res Public Health 2018 Jun 4;15(6) doi: 10.3390/ijerph15061169. PMID: 29867057Free PMC Article

Prognosis

The genomic landscape of pediatric acute lymphoblastic leukemia.
Brady SW, Roberts KG, Gu Z, Shi L, Pounds S, Pei D, Cheng C, Dai Y, Devidas M, Qu C, Hill AN, Payne-Turner D, Ma X, Iacobucci I, Baviskar P, Wei L, Arunachalam S, Hagiwara K, Liu Y, Flasch DA, Liu Y, Parker M, Chen X, Elsayed AH, Pathak O, Li Y, Fan Y, Michael JR, Rusch M, Wilkinson MR, Foy S, Hedges DJ, Newman S, Zhou X, Wang J, Reilly C, Sioson E, Rice SV, Pastor Loyola V, Wu G, Rampersaud E, Reshmi SC, Gastier-Foster J, Guidry Auvil JM, Gesuwan P, Smith MA, Winick N, Carroll AJ, Heerema NA, Harvey RC, Willman CL, Larsen E, Raetz EA, Borowitz MJ, Wood BL, Carroll WL, Zweidler-McKay PA, Rabin KR, Mattano LA, Maloney KW, Winter SS, Burke MJ, Salzer W, Dunsmore KP, Angiolillo AL, Crews KR, Downing JR, Jeha S, Pui CH, Evans WE, Yang JJ, Relling MV, Gerhard DS, Loh ML, Hunger SP, Zhang J, Mullighan CG
Nat Genet 2022 Sep;54(9):1376-1389. Epub 2022 Sep 1 doi: 10.1038/s41588-022-01159-z. PMID: 36050548Free PMC Article
PAX5 fusion genes are frequent in poor risk childhood acute lymphoblastic leukaemia and can be targeted with BIBF1120.
Fazio G, Bresolin S, Silvestri D, Quadri M, Saitta C, Vendramini E, Buldini B, Palmi C, Bardini M, Grioni A, Rigamonti S, Galbiati M, Mecca S, Savino AM, Peloso A, Tu JW, Bhatia S, Borkhardt A, Micalizzi C, Lo Nigro L, Locatelli F, Conter V, Rizzari C, Valsecchi MG, Te Kronnie G, Biondi A, Cazzaniga G
EBioMedicine 2022 Sep;83:104224. Epub 2022 Aug 16 doi: 10.1016/j.ebiom.2022.104224. PMID: 35985167Free PMC Article
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH, Langlois S, Meloche C, Caron M, Saint-Onge P, Rouette A, Bataille AR, Jimenez-Cortes C, Sontag T, Bittencourt H, Laverdière C, Lavallée VP, Leclerc JM, Cole PD, Gennarini LM, Kahn JM, Kelly KM, Michon B, Santiago R, Stevenson KE, Welch JJG, Schroeder KM, Koch V, Cellot S, Silverman LB, Sinnett D
Blood Adv 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634. PMID: 34933343Free PMC Article
Clinical significance of novel subtypes of acute lymphoblastic leukemia in the context of minimal residual disease-directed therapy.
Jeha S, Choi J, Roberts KG, Pei D, Coustan-Smith E, Inaba H, Rubnitz JE, Ribeiro RC, Gruber TA, Raimondi SC, Karol SE, Qu C, Brady SW, Gu Z, Yang JJ, Cheng C, Downing JR, Evans WE, Relling MV, Campana D, Mullighan CG, Pui CH
Blood Cancer Discov 2021 Jul;2(4):326-337. doi: 10.1158/2643-3230.BCD-20-0229. PMID: 34250504Free 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

Clinical prediction guides

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
Whole-transcriptome analysis in acute lymphoblastic leukemia: a report from the DFCI ALL Consortium Protocol 16-001.
Tran TH, Langlois S, Meloche C, Caron M, Saint-Onge P, Rouette A, Bataille AR, Jimenez-Cortes C, Sontag T, Bittencourt H, Laverdière C, Lavallée VP, Leclerc JM, Cole PD, Gennarini LM, Kahn JM, Kelly KM, Michon B, Santiago R, Stevenson KE, Welch JJG, Schroeder KM, Koch V, Cellot S, Silverman LB, Sinnett D
Blood Adv 2022 Feb 22;6(4):1329-1341. doi: 10.1182/bloodadvances.2021005634. PMID: 34933343Free PMC Article
Distinct clinical characteristics of DUX4- and PAX5-altered childhood B-lymphoblastic leukemia.
Li Z, Lee SHR, Chin WHN, Lu Y, Jiang N, Lim EH, Coustan-Smith E, Chiew KH, Oh BLZ, Koh GS, Chen Z, Kham SKY, Quah TC, Lin HP, Tan AM, Ariffin H, Yang JJ, Yeoh AE
Blood Adv 2021 Dec 14;5(23):5226-5238. doi: 10.1182/bloodadvances.2021004895. PMID: 34547766Free PMC Article
Genomic characterization of pediatric B-lymphoblastic lymphoma and B-lymphoblastic leukemia using formalin-fixed tissues.
Meyer JA, Zhou D, Mason CC, Downie JM, Rodic V, Abromowitch M, Wistinghausen B, Termuhlen AM, Angiolillo AL, Perkins SL, Lones MA, Barnette P, Schiffman JD, Miles RR
Pediatr Blood Cancer 2017 Jul;64(7) Epub 2016 Dec 13 doi: 10.1002/pbc.26363. PMID: 27957801
Pediatric acute lymphoblastic leukemia.
Carroll WL, Bhojwani D, Min DJ, Raetz E, Relling M, Davies S, Downing JR, Willman CL, Reed JC
Hematology Am Soc Hematol Educ Program 2003:102-31. doi: 10.1182/asheducation-2003.1.102. PMID: 14633779

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