Insertion of the 5′ Part of BCR within the ABL Gene at 9q34 in a Philadelphia-negative Chronic Myeloid Leukemia

Vieira, Luı́s; Alves, Ana Catarina; Marques, Bárbara; Reis, Isabel Nagle; Jorge, Graça; Ambrósio, Ana Paula; Sousa, Aïda Botelho de; Boavida, Maria Guida

doi:10.1016/s0165-4608(99)00036-9

Cited by 19 publications

(12 citation statements)

References 21 publications

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“…There are two points of note in the present case. First, for cryptic insertion of BCR at 9q34, both ours and several previously reported cases 3,6,7 showed normal chromosomes 9 and 22 (ie Ph chromosome negative). Therefore, in Ph-negative BCR/ ABL-positive CML, the absence of extra red signal on interphase ES-FISH and 1R2G1F pattern on interphase D-FISH should raise the possibility of cryptic insertion of BCR at 9q34.…”

Section: To the Editorsupporting

confidence: 56%

“…These results would further support that this aberrant localization of the BCR/ ABL fused gene may result from an insertion of a chromosome 22 segment comprising the 5 0 side of the BCR 4,5 gene rather than from two sequential translocations, the classical t(9;22) followed by a reverse translocation between the two derivative chromosomes 9 and 22. [6][7][8] Previous reports have extensively described the genetic abnormalities occurring in CML patients with cryptic insertion of the BCR gene in 9q34. To the best of our knowledge, 25 CML cases carrying this infrequent BCR/ABL gene rearrangement have been reported so far, 4-24 all of them corresponding to Ph-negative CML patients.…”

Section: To the Editormentioning

confidence: 99%

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Atypical fluorescence in situ hybridisation pattern in chronic myeloid leukaemia due to cryptic insertion of BCR at 9q34

Wan

Li³

et al. 2003

Leukemia

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Section: To the Editorsupporting

confidence: 56%

Section: To the Editormentioning

confidence: 99%

Atypical fluorescence in situ hybridisation pattern in chronic myeloid leukaemia due to cryptic insertion of BCR at 9q34

Wan

Li³

et al. 2003

Leukemia

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“…A similar insertion mechanism might occur in BCR/ABL fusions as has been suggested for the Philadelphia-negative BCR/ABL fusion in CML. 25,26 Furthermore, similar chromosomal insertions could account for other reported cryptic translocations, t(15;17) and t(8;21) in AML 27,28 and t(2;5) in anaplastic large cell lymphoma. 29 Nevertheless, by using high-resolution fiber FISH we were able to visualize the insertion of an encoding fusion gene.…”

Section: Discussionmentioning

confidence: 55%

Cryptic t(4;11) encoding MLL-AF4 due to insertion of 5′ MLL sequences in chromosome 4

et al. 2001

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The t(4;11) translocation is the cytogenetic hallmark of a subset of acute lymphoblastic leukemias characterized by pro-B immunophenotype and a dismal prognosis. This translocation fuses the MLL gene on chromosome band 11q23 and the AF4 gene on 4q21, resulting in the expression of fusion transcripts from both translocated chromosomes. The MLL-AF4 chimeric transcript is thought to mediate the leukemic transformation. The MLL genomic disruption detected by Southern blot and the RT-PCR for the MLL-AF4 chimeric transcript expression are molecular evidence of this chromosomal translocation. However, similar molecular rearrangements have also been identified in cases without the cytogenetic t(4;11). We report a 30-year-old patient with high risk ALL, a normal karyotype, and molecular evidence of MLL-AF4 fusion. Using a double color FISH assay with MLL specific PAC probes, a cryptic t(4;11) due to insertion of 5′ MLL sequences in chromosome 4q21 was demonstrated. Consequently the MLL-AF4 was encoded by der(4). This insertion mechanism precludes the genomic recombination of AF4-MLL and supports the crucial role played by MLL-AF4 in leukemogenesis. The findings of our case, along with others, show the importance of complementing the karyotype with molecular and FISH techniques. Leukemia (2001) 15, 595-600.

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“…These t(9;22) variants usually involve a third chromosome and complex rearrangements involving only chromosomes 9 and 22 have been rarely described [8][9][10]. Like classical t(9;22), these variants usually lead to a BCR/ABL fusion, which can be confirmed by RT-PCR [11].…”

Section: Discussionmentioning

confidence: 99%

Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization

Martín‐Subero

Lahortiga

Gómez

et al. 2001

Cancer Genetics and Cytogenetics

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An unusual cytogenetic rearrangement, described as ins(22;9)(q11;q34q21), was detected in a 49-year-old male patient diagnosed with chronic myeloid leukemia (CML). Reverse transcriptase polymerase chain reaction (RT-PCR) revealed a b3a2 fusion transcript. In order to confirm the cytogenetic findings and fully characterize the inverted insertion, we performed fluorescence in situ hybridization (FISH) assays using locus-specific and whole chromosome painting probes. Our FISH analysis showed the presence of the BCR/ABL fusion gene, verified the insertion and determined that the breakpoint on chromosome 22 where the insertion took place was located proximal to the BCR gene and distal to the TUPLE1 gene on 22q11.

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Insertion of the 5′ Part of BCR within the ABL Gene at 9q34 in a Philadelphia-negative Chronic Myeloid Leukemia

Cited by 19 publications

References 21 publications

Atypical fluorescence in situ hybridisation pattern in chronic myeloid leukaemia due to cryptic insertion of BCR at 9q34

Atypical fluorescence in situ hybridisation pattern in chronic myeloid leukaemia due to cryptic insertion of BCR at 9q34

Cryptic t(4;11) encoding MLL-AF4 due to insertion of 5′ MLL sequences in chromosome 4

Insertion (22;9)(q11;q34q21) in a patient with chronic myeloid leukemia characterized by fluorescence in situ hybridization

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