t(9;22)(q34;q11) BCR/ABL1 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 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.

Result of the Chromosomal Anomaly

Description

5 BCR -3¹ ABL

Highly cited references

Pubmed IDYearTitleCitations
349977662022Assessment of quantitative polymerase chain reaction for BCR-ABL1 transcripts in chronic myeloid leukaemia: Are improved outcomes in patients with e14a2 transcripts an artefact of technology?2
356160062022Pharmacokinetics of asciminib in the presence of CYP3A or P-gp inhibitors, CYP3A inducers, and acid-reducing agents.1
353570362022Treatment-free remission in patients with chronic myeloid leukemia following the discontinuation of tyrosine kinase inhibitors.1
347478762022Tyrosine kinase domain mutations in chronic myelogenous leukemia patients: A single center experience.1
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359928472022Polo-like kinase-1, Aurora kinase A and WEE1 kinase are promising druggable targets in CML cells displaying BCR::ABL1-independent resistance to tyrosine kinase inhibitors.0
359915502022A Systematic Review of Reproductive Counseling in Cases of Parental Constitutional Reciprocal Translocation (9;22) Mimicking BCR-ABL1.0
359635222022Fusion Gene Detection and Quantification by Asymmetric Capture Sequencing (aCAP-Seq).0
359323962022Defining Higher-Risk Chronic Myeloid Leukemia: Risk Scores, Genomic Landscape, and Prognostication.0
359163332022HHV8-negative primary effusion-based large B-cell lymphoma in a patient with chronic myeloid leukemia, BCR::ABL1-positive under dasatinib treatment: Report of a new case and literature review.0
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355990192022Application of precision medicine in clinical routine in haematology-Challenges and opportunities.0
355624922022Subclonal acquisition of a BCR::ABL1 fusion in a chronic myelomonocytic leukemia.0
354840802022Clinico-hematological and Outcome Profile of Pediatric B-other-ALL and BCR::ABL1-like pre-B-ALL: An Integrated Genomic Study From North India.0
354038162022Discontinuation of tyrosine kinase inhibitors in pediatric chronic myeloid leukemia.0
353781182022Allostery: Allosteric Cancer Drivers and Innovative Allosteric Drugs.0
352901572022Significance of RUNX1 mutation in BCR-ABL1 positive acute myeloid leukemia - a diagnostic dilemma in a young woman with persistent bleeding.0
360112852022Commonly Assessed Markers in Childhood BCP-ALL Diagnostic Panels and Their Association with Genetic Aberrations and Outcome Prediction.0
358929002022Novel Dicarboximide BK124.1 Breaks Multidrug Resistance and Shows Anticancer Efficacy in Chronic Myeloid Leukemia Preclinical Models and Patients' CD34+/CD38- Leukemia Stem Cells.0
358698052022Comparison of molecular responses and outcomes between BCR::ABL1 e14a2 and e13a2 transcripts in chronic myeloid leukemia.0
358163602022Inflammation accelerates BCR-ABL1+ B-ALL development through upregulation of AID.0
358096442022Allosteric Enhancement of the BCR-Abl1 Kinase Inhibition Activity of Nilotinib by Co-Binding of Asciminib.0
356764532022Impact of BCR::ABL1 transcript type on RT-qPCR amplification performance and molecular response to therapy.0
356410282022Dasatinib suppresses atherosclerotic lesions by suppressing cholesterol uptake in a mouse model of hypercholesterolemia.0
356143192022Standardization of molecular monitoring of CML: results and recommendations from the European treatment and outcome study.0
355978062022Inability to phosphorylate Y88 of p27Kip1 enforces reduced p27 protein levels and accelerates leukemia progression.0
353895072022Erythrophagocytosis by blast cells in B-lymphoblastic leukaemia with BCR-ABL1.0
358478412022The Molecular Role of HIF1α Is Elucidated in Chronic Myeloid Leukemia.0
357825812022AML with BCR-ABL1 Fusion treated with Imatinib, a Hypomethylating Agent and Venetoclax.0
357732742022Dihydroorotate dehydrogenase inhibition reveals metabolic vulnerability in chronic myeloid leukemia.0
357566862022Successful Preservation of Native BCR::ABL1 in Chronic Myeloid Leukemia Primary Leukocytes Reveals a Reduced Kinase Activity.0
357352032022Immunophenotypic characteristics of ZNF384 rearrangement compared with BCR-ABL1, KMT2A rearrangement, and other adult B-cell precursor acute lymphoblastic leukemia.0
356755142022The Impact of T cell Immunity on Chemotherapy Response in Childhood Acute Lymphoblastic Leukemia.0
354911242022TM5614, an Inhibitor of Plasminogen Activator Inhibitor-1, Exerts an Antitumor Effect on Chronic Myeloid Leukemia.0
353441152022Identification and validation of suitable housekeeping genes for gene expression studies in BCR-ABL1 positive B-lineage acute lymphoblastic leukemia.0
352986132022The differential role of the lipid raft-associated protein flotillin 2 for progression of myeloid leukemia.0
351717272022MUC4 expression by immunohistochemistry is a specific marker for BCR-ABL1+ and BCR-ABL1-like B-lymphoblastic leukemia.0
351420612022Identification of peripheral blood CD26+ leukemic stem cells has a potential role in the rapid diagnosis of chronic myeloid leukemia.0
350835262022Multiple erythrophagocytosis by erythroid blasts in acute myeloid leukemia with BCR-ABL1.0
350603182022P-Loop mutations-Negative prognosticators in tyrosine kinase inhibitors resistant chronic myeloid leukemia patients.0
360324222022High incidence of minor and micro breakpoints in Chronic Myeloid Leukaemia with additional cytogenetic abnormalities at diagnosis - the Western Australian series.0
360171022022Variables associated with pulmonary hypertension screened by echocardiography in chronic myeloid leukemia patients on dasatinib therapy.0
360153022022Imatinib Optimized Therapy Improves Major Molecular Response Rates in Patients with Chronic Myeloid Leukemia.0
359993582022Creation of Philadelphia chromosome by CRISPR/Cas9-mediated double cleavages on BCR and ABL1 genes as a model for initial event in leukemogenesis.0
359824832022Olverembatinib (HQP1351), a well-tolerated and effective tyrosine kinase inhibitor for patients with T315I-mutated chronic myeloid leukemia: results of an open-label, multicenter phase 1/2 trial.0
359398872022Efficacy of ruxolitinib in acute lymphoblastic leukemia: A systematic review.0
359389512022JAK2 V617f in chronic myeloid leukemia: driving force or passive bystander?0
359335232022Minimal residual disease in BCR::ABL1-positive acute lymphoblastic leukemia: different significance in typical ALL and in CML-like disease.0
359209652022Management of Chronic Myeloid Leukemia in Children and Young Adults.0
359027312022ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.0
357518592022Chronic myeloid leukemia: 2022 update on diagnosis, therapy, and monitoring.0
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355700712022Long-term safety review of tyrosine kinase inhibitors in chronic myeloid leukemia - What to look for when treatment-free remission is not an option.0
355514632022BCR::ABL1 tyrosine kinase inhibitors hamper the therapeutic efficacy of blinatumomab in vitro.0
355446702022An evaluation of ponatinib as a therapy in adult patients with resistant/intolerant chronic-phase chronic myeloid leukemia.0
355272442022Influence of cytochrome P450 and glutathione S transferase polymorphisms on response to nilotinib therapy among chronic myeloidleukemia patients from Pakistan.0
355240232022Introduction of the T315I gatekeeper mutation of BCR/ABL1 into a Philadelphia chromosome-positive lymphoid leukemia cell line using the CRISPR/Cas9 system.0
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349034892022State-of-the-Art Review on Myelofibrosis Therapies.0
359675712022Discontinuation of tyrosine kinase inhibitors based on BCR-ABL1 monitoring by digital droplet PCR in pediatric chronic myeloid leukemia.0
359497662022Trametinib: Could It Be a Promising Drug to Treat Atypical Chronic Myeloid Leukemia?0
359064702022Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.0
359030382022Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series.0
358954642022Két myeloproliferativ betegség egy betegben - klónok együttélése és vetélkedése.0
358870632022Ketoconazole Reverses Imatinib Resistance in Human Chronic Myelogenous Leukemia K562 Cells.0
358843632022Mechanisms of Resistance and Implications for Treatment Strategies in Chronic Myeloid Leukaemia.0
358603452022Migrating to Long-Read Sequencing for Clinical Routine BCR-ABL1 TKI Resistance Mutation Screening.0
358342222022Treatment of Adults With Philadelphia Chromosome-Positive Acute Lymphoblastic Leukemia-From Intensive Chemotherapy Combinations to Chemotherapy-Free Regimens: A Review.0
358332972022RHOA regulated IGFBP2 promotes invasion and drives progression of BCR-ABL1 chronic myeloid leukemia.0
357940902022Chronic phase CML with sole P190 (e1a2) BCR::ABL1: long-term outcome among ten consecutive cases.0
357760722022Exposure-Efficacy Analysis of Asciminib in Philadelphia Chromosome-Positive Chronic Myeloid Leukemia in Chronic Phase.0
357255932022[French Chronic Myeloid Leukemia Intergroup 2022 recommendations for managing the risk of cardiovascular events on ponatinib in chronic myeloid leukemia].0
353610362022Intracranial hypertension associated with BCR-ABL1 tyrosine kinase inhibitors in chronic myeloid leukemia.0
351657772022A case report of BCR-ABL1 rearrangement in de novo adult T-cell lymphoblastic leukemia/lymphoma with normal karyotype.0
354556862022The Use of Allogeneic Hematopoietic Stem Cell Transplantation in Primary Myelofibrosis.0
353584412022Addition of four doses of rituximab to standard induction chemotherapy in adult patients with precursor B-cell acute lymphoblastic leukaemia (UKALL14): a phase 3, multicentre, randomised controlled trial.0
351418592022Discontinuation of Tyrosine Kinase Inhibitors in Patients with Chronic Myeloid Leukemia: a Review of the Biological Factors Associated with Treatment-Free Remission.0
351127162022BCR::ABL1 transcripts and clinical outcome - interrogating the technique.0
345855202022Quantification of atypical BCR-ABL1 fusion transcripts in patients with chronic myeloid leukemia: Which approach for harmonization?0
335263732022Precursor B-lineage acute lymphoblastic leukemia patients with aberrant natural killer cell and T cell - lineage antigen expression: experience from a tertiary cancer care center.0
357647732022Population Pharmacokinetics of Asciminib in Tyrosine Kinase Inhibitor-Treated Patients with Philadelphia Chromosome-Positive Chronic Myeloid Leukemia in Chronic and Acute Phases.0
357298502022Asciminib for chronic myeloid leukaemia: Next questions.0
356866572022BCR/ABL1ΔE7-8-9 isoform contributes to tyrosine kinase inhibitor resistance in chronic myeloid leukemia.0
356502772022Measurable residual disease analysis in paediatric acute lymphoblastic leukaemia patients with ABL-class fusions.0
356093362022The Dawn of Allosteric BCR-ABL1 Drugs: From a Phenotypic Screening Hit to an Approved Drug.0
355833862022An evaluation of asciminib for patients with chronic myeloid leukemia previously treated with ≥2 tyrosine kinase inhibitors.0
354681802022Asciminib: a new therapeutic option in chronic-phase CML with treatment failure.0
354118072022Burden of tyrosine kinase inhibitor failure in Chinese chronic myeloid leukemia patients: a systematic literature review.0

Bibliography

Pubmed IDLast YearTitleAuthors
119212742002Rare 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.
Atlas Image
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