t(9;22)(q34;q11) BCR/ABL1 in treatment related leukemia
2003-10-01 Jean-Loup Huret   Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Treatment related acute myeloid leukaemias (t-AML) and lymphocytic leukemias (t-ALL)
Note
The study included 10 cases; t-AML and t-ALL accounted for half cases each. Treatment related acute lymphocytic leukemias (t-ALL) are extremely rare, found in only 20 of 511 cases (4%) in this workshop: 5 cases of t(9;22), 12 cases of t(4;11)(q22;q23), 2 cases of t(8;14)(q24;q32), and 1 case of t(11;19)(q23;p13.3)
Epidemiology
t(9;22)(q34;q11) was found in 2% of treatment related acute leukaemias; sex ratio: 2M/8F
Clinics
Age at diagnosis of the primary disease 45 yrs (range 3-76); age at diagnosis of the t-MDS/t-AML: 64 yrs (range 12-78). Median interval was long: 110 mths (range: 25-310). Primary disease was a solid tumor in 70% of cases (in particular breast cancer) and a hematologic malignancy in 20%; treatment was radiotherapy in 1/10, chemotherapy (6/10), or both (3/10). Treatment included topoisomerase II inhibitors in 4 of 9 cases and alkylating agents in 5/9.
Prognosis
Median survival was very poor: 5 mths, with 14% of patients surviving at 1 yr, and none at 2 yrs.
Genes Involved and Proteins
Highly cited references
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| 25880391 | 2015 | Clonal distribution of BCR-ABL1 mutations and splice isoforms by single-molecule long-read RNA sequencing. | 17 |
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| 33096322 | 2020 | The specificity of asciminib, a potential treatment for chronic myeloid leukemia, as a myristate-pocket binding ABL inhibitor and analysis of its interactions with mutant forms of BCR-ABL1 kinase. | 0 |
| 38643492 | 2024 | BCR::ABL1 kinase N-lobe mutants confer moderate to high degrees of resistance to asciminib. | 0 |
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| 24407376 | 2014 | Genetic events other than BCR-ABL1. | 0 |
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| 27131622 | 2016 | Early BCR-ABL1 Reduction Is Predictive of Better Event-free Survival in Patients With Newly Diagnosed Chronic Myeloid Leukemia Treated With Any Tyrosine Kinase Inhibitor. | 0 |
| 37479951 | 2023 | Mitochondrial Dysfunction in Cardiotoxicity Induced by BCR-ABL1 Tyrosine Kinase Inhibitors -Underlying Mechanisms, Detection, Potential Therapies. | 0 |
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| 37302352 | 2023 | Genetic alterations in the BCR-ABL1 fusion gene related to imatinib resistance in chronic myeloid leukemia. | 0 |
| 37078896 | 2023 | Management of chronic myeloid leukaemia: current treatment options, challenges, and future strategies. | 0 |
| 39217000 | 2025 | SOHO State of the Art Updates and Next Questions | Approach to BCR::ABL1-Like Acute Lymphoblastic Leukemia. | 0 |
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| 24367893 | 2014 | Sensitivity of SNX2-ABL1 toward tyrosine kinase inhibitors distinct from that of BCR-ABL1. | 0 |
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| 31707540 | 2020 | Low prevalence of the BCR-ABL1 fusion gene in a normal population in southern Sarawak. | 0 |
| 39743410 | 2024 | A Review of Clonal Relationships in Myeloproliferative Neoplasms With Co-Mutations of JAK2, CALR or MPL and BCR::ABL1. | 0 |
| 37871900 | 2024 | IGJ and SPATS2L immunohistochemistry sensitively and specifically identify BCR::ABL1+ and BCR::ABL1-like B-acute lymphoblastic leukaemia. | 0 |
| 32871588 | 2021 | Early BCR-ABL1 kinetics are predictive of subsequent achievement of treatment-free remission in chronic myeloid leukemia. | 0 |
| 35296447 | 2022 | The Clinical Significance of BCR-ABL1 Mutations in Patients With Philadelphia Chromosome-Positive Chronic Myeloid Leukemia Who Underwent Allogeneic Hematopoietic Cell Transplantation. | 0 |
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Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 11921274 | 2002 | Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop. | Block AW et al |
Summary
Fusion gene
BCR/ABL1 BCR (22q11.23) ABL1 (9q34.12) COF 1739 1740 1741 1742 1743 1744 1745 1746 1747 1748 1751 1752 1753 1754 1755 1756 1757 1758 1759 1760 1761 1762 1763 1764 1765 1766 1768 1769 1771 1773 1774 1775 1777 1778 1779 1780 1781 1782 1783 1788 1789 1791 1793 1794|BCR/ABL1 BCR (22q11.23) ABL1 (9q34.12) FC FUSC001404|BCR/ABL1 BCR (22q11.23) ABL1 (9q34.12) M +der(22)t(9;22)(q34;q11) der(9)del(9)(q34q34)t(9;22)(q34;q11) der(9)ins(9;9)(q?;q34)t(9;22)(q34;q11) der(9)t(9;22)(q34;q11) ins(22;9)(q11;q34q21) ins(22;9)(q11;q34q34) ins(9;22)(q34;q11q11) t(10;9;22)(q25;q34;q11) t(11;9;22)(q12;q34;q11) t(1;9;22)(p34;q34;q11) t(1;9;22)(p35;q34;q11) t(1;9;22)(p36;q34;q11) t(1;9;22)(q21;q34;q11) t(1;9;22)(q24;q34;q11) t(1;9;22)(q32;q34;q11) t(1;9;22)(q42;q34;q11) t(2;9;22)(p13;q34;q11) t(2;9;22)(p21;q34;q11) t(2;9;22)(q11;q34;q11) t(2;9;22)(q37;q34;q11) t(3;22)(p24;q11) t(3;9;22)(p11;q34;q11) t(3;9;22)(p14;q34;q11) t(3;9;22)(p21;q34;q11) t(3;9;22)(p22;q34;q11) t(3;9;22)(p24;q34;q11) t(3;9;22)(p25;q34;q11) t(3;9;22)(q12;q34;q11) t(3;9;22)(q21;q34;q11) t(3;9;22)(q25;q34;q11) t(3;9;22)(q26;q34;q11) t(3;9;22)(q27;q34;q11) t(4;9;22)(p11;q34;q11) t(4;9;22)(p14;q34;q11) t(4;9;22)(p16;q34;q11) t(4;9;22)(q12;q34;q11) t(4;9;22)(q13;q34;q11) t(4;9;22)(q21;q34;q11) t(4;9;22)(q25;q34;q11) t(4;9;22)(q27;q34;q11) t(4;9;22)(q31;q34;q11) t(4;9;22)(q34;q34;q11) t(5;9;22)(p13;q34;q11) t(5;9;22)(p15;q34;q11) t(5;9;22)(q13;q34;q11) t(5;9;22)(q23;q34;q11) t(5;9;22)(q31;q34;q11) t(6;9;22)(p11;q34;q11) t(6;9;22)(p21;q34;q11) t(6;9;22)(p22;q34;q11) t(6;9;22)(p23;q34;q11) t(6;9;22)(p24;q34;q11) t(6;9;22)(p25;q34;q11) t(6;9;22)(q12;q34;q11) t(6;9;22)(q21;q34;q11) t(6;9;22)(q22;q34;q11) t(7;9;22)(p12;q34;q11) t(7;9;22)(p22;q34;q11) t(7;9;22)(q11;q34;q11) t(7;9;22)(q12;q34;q11) t(7;9;22)(q22;q34;q11) t(7;9;22)(q32;q34;q11) t(7;9;22)(q35;q34;q11) t(8;22)(q24;q11) t(8;9;22)(p11;q34;q11) t(8;9;22)(p12;q34;q11) t(8;9;22)(p23;q34;q11) t(8;9;22)(q21;q34;q11) t(8;9;22)(q22;q34;q11) t(9;10;22)(q34;q24;q11) t(9;11;22)(q34;p15;q11) t(9;11;22)(q34;q12;q11) t(9;11;22)(q34;q13;q11) t(9;12;22)(q34;p11;q11) t(9;12;22)(q34;p13;q11) t(9;12;22)(q34;q13;q11) t(9;12;22)(q34;q15;q11) t(9;13;22)(q34;q13;q11) t(9;13;22)(q34;q14;q11) t(9;13;22)(q34;q31;q11) t(9;14;22)(q34;q11;q11) t(9;14;22)(q34;q32;q11) t(9;15;22)(q34;q24;q11) t(9;17;22)(q34;q11;q11) t(9;17;22)(q34;q22;q11) t(9;17;22)(q34;q23;q11) t(9;19;22)(q34;q13;q11) t(9;21;22)(q34;q22;q11) t(9;22)(q34;q11) t(9;22)(q34;q11)t(9;9)(q13;q34)t(9;22) t(9;22;10)(q34;q11;p12) t(9;22;10)(q34;q11;p14) t(9;22;10)(q34;q11;q11) t(9;22;10)(q34;q11;q21) t(9;22;10)(q34;q11;q22) t(9;22;11)(q34;q11;p14) t(9;22;11)(q34;q11;q11) t(9;22;11)(q34;q11;q12) t(9;22;11)(q34;q11;q13) t(9;22;12)(q34;q11;p12) t(9;22;12)(q34;q11;p13) t(9;22;12)(q34;q11;q11) t(9;22;12)(q34;q11;q13) t(9;22;12)(q34;q11;q14) t(9;22;12)(q34;q11;q15) t(9;22;12)(q34;q11;q24) t(9;22;13)(q34;q11;p12) t(9;22;13)(q34;q11;q12) t(9;22;13)(q34;q11;q13) t(9;22;13)(q34;q11;q14) t(9;22;13)(q34;q11;q21) t(9;22;14)(q34;q11;p11) t(9;22;14)(q34;q11;q13) t(9;22;14)(q34;q11;q22) t(9;22;14)(q34;q11;q23) t(9;22;14)(q34;q11;q24) t(9;22;14)(q34;q11;q32) t(9;22;15)(q34;q11;q11) t(9;22;15)(q34;q11;q14) t(9;22;15)(q34;q11;q15) t(9;22;15)(q34;q11;q21) t(9;22;15)(q34;q11;q22) t(9;22;15)(q34;q11;q24) t(9;22;15)(q34;q11;q25) t(9;22;15)(q34;q11;q26) t(9;22;16)(q34;q11;p12) t(9;22;16)(q34;q11;p13) t(9;22;16)(q34;q11;q13) t(9;22;16)(q34;q11;q24) t(9;22;17)(q34;q11;p11) t(9;22;17)(q34;q11;p13) t(9;22;17)(q34;q11;q21) t(9;22;17)(q34;q11;q22) t(9;22;17)(q34;q11;q23) t(9;22;17)(q34;q11;q24) t(9;22;17)(q34;q11;q25) t(9;22;18)(q34;q11;p11) t(9;22;19)(q34;q11;p13) t(9;22;19)(q34;q11;q12) t(9;22;19)(q34;q11;q13) t(9;22;20)(q34;q11;p13) t(9;22;20)(q34;q11;q11) t(9;22;20)(q34;q11;q13) t(9;22;21)(q34;q11;p11) t(9;22;21)(q34;q11;q11) t(9;22;21)(q34;q11;q22) t(9;22;22)(q34;q11;q11) t(9;22;22)(q34;q11;q13) t(9;7;22)(q34;p21;q11) t(9;9;22)(p13;q34;q11) t(9;9;22)(p13;q34;q22) t(9;9;22)(q22;q34;q11) t(9;9;22)(q34;q34;q11) t(X;9;22)(p11;q34;q11) t(X;9;22)(p22;q34;q11) t(X;9;22)(q11;q34;q11) t(X;9;22)(q24;q34;q11) t(Y;9;22)(q12;q34;q11)|BCR/ABL1 BCR (22q11.23) ABL1 (9q34.12) 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.

t(9;22)(q34;q11) BCR/ABL1 Partial karyotypes with t(9;22)(q34;q11). Fluorescence in situ hybridization with the Vysis LSI BCR/ABL1 dual color dual fusion probes (Abbott Molecular, US) showing 2 copies of genes on normal (A) and fusion red-green signals on der(9) and der(22) chromosomes, the most frequently encountered FISH pattern in patients with t(9;22)(q34;q11) (B). In a smaller subset of patients a supernumerary Ph may be observed, as an extra der(22) chromosome (C) or it is resent in hyperdiploid karyotypes (D). Atypical fusion patterns include the presence of cryptic fusion signal (E), 1 fusion signal on der(22) chromosome (F), that may be with loss of residual proximal 9q (G). Sporadic variations may include the presence of derivative 9 and 22 chromosomes that result from the formation of isodicentric (H) or isochromosomes with or without 9q deletion (I,J) u2013 Courtesy Adriana Zamecnikova.
Citation
Jean-Loup Huret
t(9;22)(q34;q11) BCR/ABL1 in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2003-10-01
Online version: http://atlasgeneticsoncology.org/haematological/1300/t(9;22)(q34;q11)-bcr-abl1-in-treatment-related-leukemia
