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


Treatment related acute myeloid leukaemias (t-AML) and lymphocytic leukemias (t-ALL)


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)


t(9;22)(q34;q11) was found in 2% of treatment related acute leukaemias; sex ratio: 2M/8F


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.


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


5 BCR -3¹ ABL

Highly cited references

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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


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


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.


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