Detection of the breakpoint cluster region-ABL fusion in chronic myeloid leukemia with variant Philadelphia chromosome translocations by in situ hybridization

Tosi, Sabrina; Cabot, Georges; Giudici, Giovanni; Attuati, Viviana; Morandi, Paolo; Döhner, Hartmut; Biondi, Andrea

doi:10.1016/0165-4608(96)00021-0

Cited by 5 publications

(2 citation statements)

References 21 publications

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“…Classic examples of these rearrangements are variant or masked Philadelphia chromosomes in chronic myeloid leukaemia [29,30], variant or complex t(15;17) in acute promyelocytic leukaemia [31,32] and many others. Complex translocations involving ETV6 resulting in known fusions have also been reported [15,33,34,35].…”

Section: Discussionmentioning

confidence: 99%

A Novel Three-Colour Fluorescence in Situ Hybridization Approach for the Detection of t(7;12)(q36;p13) in Acute Myeloid Leukaemia Reveals New Cryptic Three Way Translocation t(7;12;16)

Naiel

Vetter²,

Plekhanova

et al. 2013

Cancers

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The t(7;12)(q36;p13) translocation is a recurrent chromosome abnormality that involves the ETV6 gene on chromosome 12 and has been identified in 20–30% of infant patients with acute myeloid leukaemia (AML). The detection of t(7;12) rearrangements relies on the use of fluorescence in situ hybridization (FISH) because this translocation is hardly visible by chromosome banding methods. Furthermore, a fusion transcript HLXB9-ETV6 is found in approximately 50% of t(7;12) cases, making the reverse transcription PCR approach not an ideal screening method. Considering the report of few cases of variant translocations harbouring a cryptic t(7;12) rearrangement, we believe that the actual incidence of this abnormality is higher than reported to date. The clinical outcome of t(7;12) patients is believed to be poor, therefore an early and accurate diagnosis is important in the clinical management and treatment. In this study, we have designed and tested a novel three-colour FISH approach that enabled us not only to confirm the presence of the t(7;12) in a number of patients studied previously, but also to identify a cryptic t(7;12) as part of a complex rearrangement. This new approach has proven to be an efficient and reliable method to be used in the diagnostic setting.

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Section: Discussionmentioning

confidence: 99%

A Novel Three-Colour Fluorescence in Situ Hybridization Approach for the Detection of t(7;12)(q36;p13) in Acute Myeloid Leukaemia Reveals New Cryptic Three Way Translocation t(7;12;16)

Naiel

Vetter²,

Plekhanova

et al. 2013

Cancers

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“…When molecular analyses are performed, all apparently simple variant Ph‐producing CML translocations were shown to be complex (Johansson et al , 2002). All chromosomes have been involved in these variants, but only eight cases have been reported to harbour this three‐way 9;22;14‐translocation as established by cytogenetic and/or molecular genetic techniques (Mitelman et al , 2005), seven CML (Ishihara & Minamihisamatsu, 1988; Zhang et al , 1993; Mantzourani et al , 1996; Tosi et al , 1996; Reid et al , 2003; El Zimaity et al , 2004) and one non‐neoplastic myeloid disorder (Reddy & Sulcova, 2000). Our three leukaemias with t(9;22;14) therefore do not present any pathogenetically challenging question beyond the general conundrum as to why variant translocations at all are so common in CML and why they involve the chromosomal sites they do.…”

Section: Discussionmentioning

confidence: 99%

t(14;22)(q32;q11) in non‐Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations

et al. 2005

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Summary Two non‐Hodgkin lymphomas (NHL), one chronic lymphocytic leukaemia/small lymphocytic lymphoma and one diffuse large B‐cell lymphoma and three cases of myeloid leukaemia, two chronic (CML) and one acute (AML), showed, by G‐banding analysis, apparently identical chromosomal translocations t(14;22)(q32;q11), in three of the cases as the sole abnormality. Fluorescence in situ hybridisation (FISH) analysis with locus‐specific probes for ABL at 9q34 [bacterial artificial chromosomes (BACs) 835J22 and 1132H12], IGH at 14q32 [P1 artificial chromosome (PAC) 998D24] and IGL (PAC 1019H10) and BCR (BAC 74M14) at 22q11, as well as multicolour in situ hybridisation (M‐FISH) analyses were performed. A three‐way variant translocation of the classical t(9;22)(q34;q11), t(9;22;14)(q34;q11;q32), involving both BCR and ABL, was unravelled by the molecular cytogenetic investigations in the three myeloid leukaemia cases; a similar variant translocation has previously been reported in seven CML. The two cases of NHL (one NHL with a similar 14;22‐translocation has been reported previously) had no involvement of BCR or ABL, but instead the IGH and IGL genes were shown to be juxtaposed by the t(14;22)(q32;q11). How such a rearrangement with recombination of IGH and IGL might elicit a pathogenetic effect is completely unknown.

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Jumping translocation of 17q11∼qter and 3q25∼q28 duplication in a variant Philadelphia t(9;14;22)(q34;q32;q11) in a childhood chronic myelogenous leukemia

Haltrich

Kost‐Alimova

Kovàcs

et al. 2006

Cancer Genetics and Cytogenetics

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Detection of the breakpoint cluster region-ABL fusion in chronic myeloid leukemia with variant Philadelphia chromosome translocations by in situ hybridization

Cited by 5 publications

References 21 publications

A Novel Three-Colour Fluorescence in Situ Hybridization Approach for the Detection of t(7;12)(q36;p13) in Acute Myeloid Leukaemia Reveals New Cryptic Three Way Translocation t(7;12;16)

A Novel Three-Colour Fluorescence in Situ Hybridization Approach for the Detection of t(7;12)(q36;p13) in Acute Myeloid Leukaemia Reveals New Cryptic Three Way Translocation t(7;12;16)

t(14;22)(q32;q11) in non‐Hodgkin lymphoma and myeloid leukaemia: molecular cytogenetic investigations

Jumping translocation of 17q11∼qter and 3q25∼q28 duplication in a variant Philadelphia t(9;14;22)(q34;q32;q11) in a childhood chronic myelogenous leukemia

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