t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia

2003-10-01   Jean-Loup Huret  

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

Disease

Treatment related myelodysplasia (t-MDS) or acute myeloid leukaemias (t-AML)

Note

The study included 44 cases; t-MDS with or without progression to AML accounted for 20% and t-AML for the remaining 80%; no case of acute lymphoblastic leukaemia

Epidemiology

t(8;21)(q22;q22) was found in 9% of t-MDS/t-AML; 1M to 1F sex ratio

Clinics

Age at diagnosis of the primary disease 45 yrs (range 2-75); age at diagnosis of the t-MDS/t-AML: 47 yrs for patients with the t(8;21) solely and 50 yrs for patients with an additional anomaly; range was(15-77). Median interval was 39 mths for cases with t(8;21) solely, and 33 mths in other cases; (range: 6-306). Primary disease was a solid tumor in 70% of cases ( breast cancer in particular) and a hematologic malignancy in 30%, treated with radiotherapy (12%), chemotherapy (42%), or both (46%).

Cytology

Cell morphology was similar to those of de novo t(8;21)

Prognosis

Median survival was 17mths and 31 mths respectively for patients without and with additionnal anomalies, but the difference was not significant. Outcome was better than the outcome of patients with 11q23 rearrangement, 3q21q26 rearrangement, 12p13 rearrangement, t(9;22), t(8;16), or a t(3;21) and worse than the outcome of patients with with t(15;17) or inv(16) treatment related leukemias.

Result of the Chromosomal Anomaly

Description

5 AML1 - 3 ETO; breakpoint is most often in the AML1 intron 5.

Highly cited references

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315546352019Measurable residual disease monitoring in acute myeloid leukemia with t(8;21)(q22;q22.1): results from the AML Study Group.22
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321155722020ZBTB7A prevents RUNX1-RUNX1T1-dependent clonal expansion of human hematopoietic stem and progenitor cells.7
316918042019Splicing factor DHX15 affects tp53 and mdm2 expression via alternate splicing and promoter usage.7
325398152020Allogeneic hematopoietic stem cell transplantation can improve the prognosis of high-risk pediatric t(8;21) acute myeloid leukemia in first remission based on MRD-guided treatment.6
324600282020Expression of RUNX1-ETO Rapidly Alters the Chromatin Landscape and Growth of Early Human Myeloid Precursor Cells.6
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330541282021Engineered type 1 regulatory T cells designed for clinical use kill primary pediatric acute myeloid leukemia cells.5
321755992020Measurable residual disease assessment by qPCR in peripheral blood is an informative tool for disease surveillance in childhood acute myeloid leukaemia.5
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302737802019Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations.5
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357658762022Immunohistochemical Staining to Identify Concomitant Systemic Mastocytosis in Acute Myeloid Leukemia with RUNX1::RUNX1T1.0
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Bibliography

Pubmed IDLast YearTitleAuthors
11921272200221q22 balanced chromosome aberrations in therapy-related hematopoietic disorders: report from an international workshop.Slovak ML et al

Summary

Fusion gene

RUNX1/RUNX1T1 RUNX1 (21q22.12) RUNX1T1 (8q21.3) M ins(21;8)(q22;q11q22) ins(21;8)(q22;q12q22) ins(21;8)(q22;q13q22) ins(21;8)(q22;q21q22) ins(21;8)(q22;q22q22) ins(8;21)(q22;q22q22) t(8;21)(q22;q22) t(8;21;14)(q22;q22;q24)|RUNX1/RUNX1T1 RUNX1 (21q22.12) RUNX1T1 (8q21.3) TF LAML|RUNX1/RUNX1T1 RUNX1 (21q22.12) RUNX1T1 (8q21.3) TIC

Note

This data is extracted from a very large study from an International Workshop on treatment related leukemias - restricted to balanced chromosome aberrations (i.e.: -5/del(5q)and -7/del(7q) not taken into account per see), published in Genes,Chromosomes and Cancer in 2002.

Citation

Jean-Loup Huret

t(8;21)(q22;q22) RUNX1/RUNX1T1 in treatment related leukemia

Atlas Genet Cytogenet Oncol Haematol. 2003-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1293/t(8;21)(q22;q22)-runx1-runx1t1-in-treatment-related-leukemia