Detection of a case of chronic myeloid leukaemia with deletions at the t(9;22) translocation breakpoints by a genome‐wide non‐invasive prenatal test. (19th July 2016)

• Record Type: Journal Article
• Authors: Janssens, Katrien; Deiteren, Kathleen; Verlinden, Anke; Rooms, Liesbeth; Beckers, Sigri; Holmgren, Philip; Vermeulen, Katrien; Maes, Marie‐Berthe; Mortier, Geert; Blaumeiser, Bettina
• Is Part Of: Prenatal diagnosis. Volume 36:Number 8(2016)
• Page Start: 760
• Page End: 765
• Publication Date: 2016-07-19
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4857
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: Non‐invasive prenatal tests (NIPTs) interrogating the complete genome are able to detect not only fetal trisomy 13, 18 or 21 but additionally provide information on other (sub)chromosomal aberrations that can be fetal or maternal in origin. We demonstrate that in a subset of cases, this information is clinically relevant and should be reported to ensure adequate follow‐up. Method: Genome‐wide NIPT was carried out and followed by a software analysis pipeline optimized to detect subchromosomal aberrations. Results: The NIPT profile showed deletions on chromosomes 9 and 22: NIPT 9q33.3q34.12(129150001‐133750000)x1, 22q11.23(23550001‐25450000)x1, 22q13.1(37850001‐39600000)x1. This result was confirmed by single nucleotide polymorphism array on maternal genomic DNA, which also demonstrated that the deletions were somatic in nature. Fluorescence in situ hybridization and quantitative real‐time polymerase chain reaction revealed that the deletions were flanking the translocation breakpoint on the derivative chromosome 9 as the result of a t(9;22)(q34;q11.2) translocation with BCR–ABL1 fusion typical for chronic myeloid leukaemia (CML). Multidisciplinary counselling, together with complete blood count, taught that the woman was in an early chronic phase CML. The woman was followed up closely, and treatment could be postponed until after delivery. Conclusion: Genome‐wide NIPT identified a CML in chronic phase caused by the typical t(9;22)(q34;q11.2) translocation and accompanied by deletions flanking the translocation breakpoints. © 2016 John Wiley & Sons, Ltd. Abstract : What's Already Known about this Topic? Incidental findings occur when undergoing a non‐invasive prenatal test (NIPT). Incidental findings are not necessarily fetal in origin but can be maternal as well. Aberrant NIPT patterns can be indicative of a maternal cancer, but only very few reports have been published thus far. What does this Study Add? This study is the first to report that genome‐wide NIPT can detect chronic myeloid leukaemia caused by the typical t(9;22) translocation when accompanied by deletions at the translocation breakpoints.