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t(9;22)(q34;q11) BCR::ABL1 in treatment related leukemia

Written2003-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9920/3 Therapy-related myeloid neoplasms
Atlas_Id 1300
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) – Courtesy Adriana Zamecnikova.

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.


Additional anomalies Complex karyotypes were found in 6 of 10 cass.

Result of the chromosomal anomaly

Hybrid gene
Description 5' BCR -3¹ ABL


Rare recurring balanced chromosome abnormalities in therapy-related myelodysplastic syndromes and acute leukemia: report from an international workshop.
Block AW, Carroll AJ, Hagemeijer A, Michaux L, van Lom K, Olney HJ, Baer MR
Genes, chromosomes & cancer. 2002 ; 33 (4) : 401-412.
PMID 11921274


This paper should be referenced as such :
Huret, JL
t(9;22)(q34;q11) in treatment related leukemia
Atlas Genet Cytogenet Oncol Haematol. 2004;8(1):26-26.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;22)(q34;q11) BCR/ABL1 in treatment related leukemia

External links

BCR (22q11.23) ABL1 (9q34.12)

BCR (22q11.23) ABL1 (9q34.12)

BCR (22q11.23) ABL1 (9q34.12)

BCR (22q11.23) ABL1 (9q34.12)

Mitelman databaset(9;22)(q34;q11)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9920/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
COSMIC_fusionBCR/ABL1 BCR (22q11.23) ABL1 (9q34.12)   [fusion1739]   [fusion1740]   [fusion1741]   [fusion1742]   [fusion1743]   [fusion1744]   [fusion1745]   [fusion1746]   [fusion1747]   [fusion1748]   [fusion1751]   [fusion1752]   [fusion1753]   [fusion1754]   [fusion1755]   [fusion1756]   [fusion1757]   [fusion1758]   [fusion1759]   [fusion1760]   [fusion1761]   [fusion1762]   [fusion1763]   [fusion1764]   [fusion1765]   [fusion1766]   [fusion1768]   [fusion1769]   [fusion1771]   [fusion1773]   [fusion1774]   [fusion1775]   [fusion1777]   [fusion1778]   [fusion1779]   [fusion1780]   [fusion1781]   [fusion1782]   [fusion1783]   [fusion1788]   [fusion1789]   [fusion1791]   [fusion1793]   [fusion1794]  
Fusion_CancerBCR/ABL1 [FUSC001404]  BCR (22q11.23) ABL1 (9q34.12)
Mitelman databaseBCR::ABL1 [MCList]  BCR (22q11.23) ABL1 (9q34.12)
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