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Myeloid leukemia associated with down syndrome

MedGen UID:
416725
•Concept ID:
C2825149
•
Neoplastic Process
Synonyms: Myeloid leukemia and Down syndrome; Myeloid Leukemia Associated with Down Syndrome; Myeloid leukemia associated with Down Syndrome; Myeloid leukemia associated with Down syndrome; myeloid leukemia associated with down syndrome; Myeloid leukemia co-occurrent with Down syndrome
SNOMED CT: Myeloid leukemia associated with Down Syndrome (450935006); Myeloid leukemia co-occurrent with Down syndrome (724644005); Myeloid leukemia and Down syndrome (724644005); Myeloid leukemia associated with Down syndrome (724644005)
 
Monarch Initiative: MONDO:0850271

Definition

Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyeloid leukemia associated with down syndrome

Professional guidelines

PubMed

Management of Down Syndrome-Associated Leukemias: A Review.
Verma A, Lupo PJ, Shah NN, Hitzler J, Rabin KR
JAMA Oncol 2023 Sep 1;9(9):1283-1290. doi: 10.1001/jamaoncol.2023.2163. PMID: 37440251
Molecular features, prognosis, and novel treatment options for pediatric acute megakaryoblastic leukemia.
De Marchi F, Araki M, Komatsu N
Expert Rev Hematol 2019 May;12(5):285-293. Epub 2019 Apr 27 doi: 10.1080/17474086.2019.1609351. PMID: 30991862
Results of treatment of children with refractory anaemia with excess blasts (RAEB) and RAEB in transformation (RAEBt) in Great Britain 1990-99.
Webb DK, Passmore SJ, Hann IM, Harrison G, Wheatley K, Chessells JM
Br J Haematol 2002 Apr;117(1):33-9. doi: 10.1046/j.1365-2141.2002.03369.x. PMID: 11918530

Recent clinical studies

Etiology

The paradox of Myeloid Leukemia associated with Down syndrome.
Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.
Hasle H, Kline RM, Kjeldsen E, Nik-Abdul-Rashid NF, Bhojwani D, Verboon JM, DiTroia SP, Chao KR, Raaschou-Jensen K, Palle J, Zwaan CM, Nyvold CG, Sankaran VG, Cantor AB
Blood 2022 May 26;139(21):3159-3165. doi: 10.1182/blood.2021011463. PMID: 34758059Free PMC Article
Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.
Terui K, Toki T, Taga T, Iwamoto S, Miyamura T, Hasegawa D, Moritake H, Hama A, Nakashima K, Kanezaki R, Kudo K, Saito AM, Horibe K, Adachi S, Tomizawa D, Ito E
Genes Chromosomes Cancer 2020 Mar;59(3):160-167. Epub 2019 Oct 21 doi: 10.1002/gcc.22816. PMID: 31606922
Predispositions to Leukemia in Down Syndrome and Other Hereditary Disorders.
Saida S
Curr Treat Options Oncol 2017 Jul;18(7):41. doi: 10.1007/s11864-017-0485-x. PMID: 28580501
Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.
Uffmann M, Rasche M, Zimmermann M, von Neuhoff C, Creutzig U, Dworzak M, Scheffers L, Hasle H, Zwaan CM, Reinhardt D, Klusmann JH
Blood 2017 Jun 22;129(25):3314-3321. Epub 2017 Apr 11 doi: 10.1182/blood-2017-01-765057. PMID: 28400376

Diagnosis

Survival outcomes of children with relapsed or refractory myeloid leukemia associated with Down syndrome.
Raghuram N, Hasegawa D, Nakashima K, Rahman S, Antoniou E, Skajaa T, Merli P, Verma A, Rabin KR, Aftandilian C, Kotecha RS, Cheuk D, Jahnukainen K, Kolenova A, Balwierz W, Norton A, O'Brien M, Cellot S, Chopek A, Arad-Cohen N, Goemans B, Rojas-Vasquez M, Ariffin H, Bartram J, Kolb EA, Locatelli F, Klusmann JH, Hasle H, McGuire B, Hasnain A, Sung L, Hitzler J
Blood Adv 2023 Nov 14;7(21):6532-6539. doi: 10.1182/bloodadvances.2022009381. PMID: 36735769Free PMC Article
The paradox of Myeloid Leukemia associated with Down syndrome.
Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype.
Hasle H, Kline RM, Kjeldsen E, Nik-Abdul-Rashid NF, Bhojwani D, Verboon JM, DiTroia SP, Chao KR, Raaschou-Jensen K, Palle J, Zwaan CM, Nyvold CG, Sankaran VG, Cantor AB
Blood 2022 May 26;139(21):3159-3165. doi: 10.1182/blood.2021011463. PMID: 34758059Free PMC Article
Highly sensitive detection of GATA1 mutations in patients with myeloid leukemia associated with Down syndrome by combining Sanger and targeted next generation sequencing.
Terui K, Toki T, Taga T, Iwamoto S, Miyamura T, Hasegawa D, Moritake H, Hama A, Nakashima K, Kanezaki R, Kudo K, Saito AM, Horibe K, Adachi S, Tomizawa D, Ito E
Genes Chromosomes Cancer 2020 Mar;59(3):160-167. Epub 2019 Oct 21 doi: 10.1002/gcc.22816. PMID: 31606922
Favorable survival maintained in children who have myeloid leukemia associated with Down syndrome using reduced-dose chemotherapy on Children's Oncology Group trial A2971: a report from the Children's Oncology Group.
Sorrell AD, Alonzo TA, Hilden JM, Gerbing RB, Loew TW, Hathaway L, Barnard D, Taub JW, Ravindranath Y, Smith FO, Arceci RJ, Woods WG, Gamis AS
Cancer 2012 Oct 1;118(19):4806-14. Epub 2012 Mar 5 doi: 10.1002/cncr.27484. PMID: 22392565Free PMC Article

Therapy

A phase III clinical trial evaluating efficacy and safety of minimal residual disease-based risk stratification for children with acute myeloid leukemia, incorporating a randomized study of gemtuzumab ozogamicin in combination with post-induction chemotherapy for non-low-risk patients (JPLSG-AML-20).
Tomizawa D, Tsujimoto SI, Tanaka S, Matsubayashi J, Aoki T, Iwamoto S, Hasegawa D, Nagai K, Nakashima K, Kawaguchi K, Deguchi T, Kiyokawa N, Ohki K, Hiramatsu H, Shiba N, Terui K, Saito AM, Kato M, Taga T, Koshinaga T, Adachi S
Jpn J Clin Oncol 2022 Oct 6;52(10):1225-1231. doi: 10.1093/jjco/hyac105. PMID: 35809896
Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.
Uffmann M, Rasche M, Zimmermann M, von Neuhoff C, Creutzig U, Dworzak M, Scheffers L, Hasle H, Zwaan CM, Reinhardt D, Klusmann JH
Blood 2017 Jun 22;129(25):3314-3321. Epub 2017 Apr 11 doi: 10.1182/blood-2017-01-765057. PMID: 28400376
Favorable survival maintained in children who have myeloid leukemia associated with Down syndrome using reduced-dose chemotherapy on Children's Oncology Group trial A2971: a report from the Children's Oncology Group.
Sorrell AD, Alonzo TA, Hilden JM, Gerbing RB, Loew TW, Hathaway L, Barnard D, Taub JW, Ravindranath Y, Smith FO, Arceci RJ, Woods WG, Gamis AS
Cancer 2012 Oct 1;118(19):4806-14. Epub 2012 Mar 5 doi: 10.1002/cncr.27484. PMID: 22392565Free PMC Article

Prognosis

The impact of Down syndrome-specific non-malignant hematopoietic regeneration in the bone marrow on the detection of leukemic measurable residual disease.
Hsu FC, Hudson C, Wilson ER, Pardo LM, Singleton TP, Xu D, Zehentner BK, Hitzler J, Berman J, Wells DA, Loken MR, Brodersen LE
Cytometry B Clin Cytom 2023 Jul;104(4):311-318. Epub 2023 Apr 4 doi: 10.1002/cyto.b.22118. PMID: 37015883
Survival outcomes of children with relapsed or refractory myeloid leukemia associated with Down syndrome.
Raghuram N, Hasegawa D, Nakashima K, Rahman S, Antoniou E, Skajaa T, Merli P, Verma A, Rabin KR, Aftandilian C, Kotecha RS, Cheuk D, Jahnukainen K, Kolenova A, Balwierz W, Norton A, O'Brien M, Cellot S, Chopek A, Arad-Cohen N, Goemans B, Rojas-Vasquez M, Ariffin H, Bartram J, Kolb EA, Locatelli F, Klusmann JH, Hasle H, McGuire B, Hasnain A, Sung L, Hitzler J
Blood Adv 2023 Nov 14;7(21):6532-6539. doi: 10.1182/bloodadvances.2022009381. PMID: 36735769Free PMC Article
The paradox of Myeloid Leukemia associated with Down syndrome.
Gupte A, Al-Antary ET, Edwards H, Ravindranath Y, Ge Y, Taub JW
Biochem Pharmacol 2022 Jul;201:115046. Epub 2022 Apr 26 doi: 10.1016/j.bcp.2022.115046. PMID: 35483417
Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome.
Watanabe K
Pediatr Int 2019 Mar;61(3):222-229. Epub 2019 Mar 4 doi: 10.1111/ped.13776. PMID: 30593694
Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.
Uffmann M, Rasche M, Zimmermann M, von Neuhoff C, Creutzig U, Dworzak M, Scheffers L, Hasle H, Zwaan CM, Reinhardt D, Klusmann JH
Blood 2017 Jun 22;129(25):3314-3321. Epub 2017 Apr 11 doi: 10.1182/blood-2017-01-765057. PMID: 28400376

Clinical prediction guides

The impact of Down syndrome-specific non-malignant hematopoietic regeneration in the bone marrow on the detection of leukemic measurable residual disease.
Hsu FC, Hudson C, Wilson ER, Pardo LM, Singleton TP, Xu D, Zehentner BK, Hitzler J, Berman J, Wells DA, Loken MR, Brodersen LE
Cytometry B Clin Cytom 2023 Jul;104(4):311-318. Epub 2023 Apr 4 doi: 10.1002/cyto.b.22118. PMID: 37015883
Recent advances in the understanding of transient abnormal myelopoiesis in Down syndrome.
Watanabe K
Pediatr Int 2019 Mar;61(3):222-229. Epub 2019 Mar 4 doi: 10.1111/ped.13776. PMID: 30593694
Therapy reduction in patients with Down syndrome and myeloid leukemia: the international ML-DS 2006 trial.
Uffmann M, Rasche M, Zimmermann M, von Neuhoff C, Creutzig U, Dworzak M, Scheffers L, Hasle H, Zwaan CM, Reinhardt D, Klusmann JH
Blood 2017 Jun 22;129(25):3314-3321. Epub 2017 Apr 11 doi: 10.1182/blood-2017-01-765057. PMID: 28400376

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