Duplication of Isodicentric Chromosome 13, idic(13)(p11.2), Leading to Pentasomy 13q in Acute Myeloid Leukemia without MaturationKjeldsen E.a · Kallenbach M.b
aCancer Cytogenetics Laboratory, Department of Hematology, Aarhus University Hospital, Aarhus, and bDepartment of Hematology, Institute for Clinical Medicine, Aalborg University Hospital, Aalborg, Denmark
Do you have an account?
- Rent for 48h to view
- Buy Cloud Access for unlimited viewing via different devices
- Synchronizing in the ReadCube Cloud
- Printing and saving restrictions apply
Rental: USD 8.50
Cloud: USD 20.00
Isodicentric chromosome 13, idic(13)(p11.2), is a very rare chromosomal aberration in acute myeloid leukemia (AML). We describe here a novel case of AML without maturation, where the leukemic cells harbored double idic(13)(p11.2) and a normal chromosome 13 resulting in pentasomy 13q. Analyses were done on aspirated bone marrow cells from diagnosis. We utilized G-banding analysis, 24-color karyotyping and additional FISH analyses with various locus-specific probes to characterize the chromosomal complement. Oligonucleotide-based 180K aCGH analysis was done to search for submicroscopic imbalances. The karyotype was 47,XY,idic(13)(p11.2)x2/46,XY. Pantelomeric FISH analysis indicated critically short telomeres. Oligo-based aCGH analysis confirmed high copy gain of chromosome 13q and did not disclose other genomic imbalances. Reviewing the literature, this may be the second case of pentasomy 13q, since idic(13)(p11.2), when analyzed by conventional cytogenetics, is indistinguishable from i(13)(q10). Both cases were associated with immature AML and a poor outcome. We propose that idic(13)(p11.2) is a new recurrent abnormality in AML without maturation and suggest that pentasomy 13q is an early event in pathogenesis of AML through amplification of genes located on 13q.
© 2013 S. Karger AG, Basel
Article / Publication Details
Copyright / Drug Dosage / DisclaimerCopyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.