Molecular characterization and follow‐up of five CML patients with new BCR–ABL1 fusion transcripts. Issue 10 (7th August 2015)

• Record Type: Journal Article
• Authors: Huet, Sarah; Dulucq, Stéphanie; Chauveau, Aurélie; Ménard, Audrey; Chomel, Jean‐Claude; Maisonneuve, Hervé; Legros, Laurence; Perrin, Marie‐Claire; Ferrant, Emmanuelle; Moreilhon, Chimène; Couturier, Marie‐Anne; Sujobert, Pierre; Magaud, Jean‐Pierre; Ugo, Valérie; Chabane, Kaddour; Raynaud, Sophie; Hayette;, Sandrine; GBMHM (Groupe des Biologistes Moléculaires des Hémopathies Malignes, French Molecular Biology Group in Hematology)
• Is Part Of: Genes, chromosomes & cancer. Volume 54:Issue 10(2015:Oct.)
• Page Start: 595
• Page End: 605
• Publication Date: 2015-08-07
• Subjects: Cancer -- Genetic aspects -- Periodicals; 616.994042
• DOI: 10.1002/gcc.22263
• Languages: English
• ISSNs: 1045-2257

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We report five chronic myeloid leukaemia (CML) patients in whom we identified and characterized undescribed <italic>BCR–ABL1</italic> fusion transcripts. We investigated the precise features of the molecular rearrangements and the minimal residual disease follow‐up for these five patients. Three resulted from new rearrangements between the <italic>BCR</italic> and <italic>ABL1</italic> sequences (the breakpoints being located within <italic>BCR</italic> exon 13 in two cases and within <italic>BCR</italic> exon 18 in one case). The other two cases revealed a complex e8‐[ins]‐a2 fusion transcript involving a third partner gene, <italic>PRDM12</italic> and <italic>SPECC1L</italic>, respectively. Moreover, single nucleotide polymorphism‐array analysis performed in the latter two cases showed copy number alterations shared by the two patients, thus identifying genes that were deleted during rearrangement and suggesting their potential role in CML pathogenesis. Interestingly, we highlight that the prognosis of alterations, such as the presence of an e8a2 transcript or the deletion of various genes, which have been controversial, may be definitively erased by the introduction of tyrosine kinase inhibitors (TKIs). © 2015 Wiley Periodicals, Inc.</p> </abstract>