The University of Southampton
University of Southampton Institutional Repository

Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study

Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study
Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study
Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALLs and 189 DS-AMLs. Unlike previous smaller series, a significant proportion of DS-ALLs had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALLs were characterized by gains of the same chromosomes as non-DS-HeH, suggesting the same etiology/pathogenesis. In addition, specific genetic subtypes of DS-ALL were suggested by the significant overrepresentation of cases with +X, t(8;14)(q11; q32), and del(9p). Unlike DS-ALL, the common translocations associated with non-DS-AML were rare in DS-AML, which instead were characterized by the frequent presence of dup(1q), del(6q), del(7p), dup(7q), +8, +11, del(16q), and +21. This series of DS leukemias-the largest to date-reveals that DS-ALL is a heterogeneous disorder that comprises both t(12;21) and HeH as well as DS-related abnormalities. Furthermore, this analysis confirms that DS-AML is a distinct entity, originating through other genetic pathways than do non-DS-AMLs, and suggests that unbalanced changes such as dup(1q), +8, and +21 are involved in the leukemogenic process
nordic series, pathways, leukemia, transient myeloproliferative disorder, abnormalities, acute megakaryoblastic leukemia, childhood, b cell, children, time, aberrations, risk, 6q deletions, oncology-group, clinical characteristics, features
0006-4971
1575-1583
Forestier, E.
510b4be0-729c-4ee4-8885-541a2c745b00
Izraeli, S.
80c9e8de-c09c-4770-a589-d8558bbac642
Beverloo, B.
e618ce17-342a-4767-b79a-9a1455e75802
Haas, O.
632c7df4-d7e8-4e44-89dc-59a66aae079e
Pession, A.
ae055b31-e14d-4028-a4c8-09b04ec7d0f2
Michalova, K.
e4498b86-c8a1-4da0-b4b6-09e1af9486cc
Stark, B.
df8d2aa7-5398-4512-a466-ff4c3be78c32
Harrison, C.J.
9c9f6b47-8bfc-49dd-b156-74539b170291
Teigler-Schlegel, A.
c473b3a9-dcaa-4baf-8304-ebdb42f87a87
Johansson, B.
539cf4c5-1a42-4159-939d-0e3de04afb36
Forestier, E.
510b4be0-729c-4ee4-8885-541a2c745b00
Izraeli, S.
80c9e8de-c09c-4770-a589-d8558bbac642
Beverloo, B.
e618ce17-342a-4767-b79a-9a1455e75802
Haas, O.
632c7df4-d7e8-4e44-89dc-59a66aae079e
Pession, A.
ae055b31-e14d-4028-a4c8-09b04ec7d0f2
Michalova, K.
e4498b86-c8a1-4da0-b4b6-09e1af9486cc
Stark, B.
df8d2aa7-5398-4512-a466-ff4c3be78c32
Harrison, C.J.
9c9f6b47-8bfc-49dd-b156-74539b170291
Teigler-Schlegel, A.
c473b3a9-dcaa-4baf-8304-ebdb42f87a87
Johansson, B.
539cf4c5-1a42-4159-939d-0e3de04afb36

Forestier, E., Izraeli, S., Beverloo, B., Haas, O., Pession, A., Michalova, K., Stark, B., Harrison, C.J., Teigler-Schlegel, A. and Johansson, B. (2008) Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study. Blood, 111 (3), 1575-1583. (doi:10.1182/blood-2007-09-114231).

Record type: Article

Abstract

Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALLs and 189 DS-AMLs. Unlike previous smaller series, a significant proportion of DS-ALLs had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALLs were characterized by gains of the same chromosomes as non-DS-HeH, suggesting the same etiology/pathogenesis. In addition, specific genetic subtypes of DS-ALL were suggested by the significant overrepresentation of cases with +X, t(8;14)(q11; q32), and del(9p). Unlike DS-ALL, the common translocations associated with non-DS-AML were rare in DS-AML, which instead were characterized by the frequent presence of dup(1q), del(6q), del(7p), dup(7q), +8, +11, del(16q), and +21. This series of DS leukemias-the largest to date-reveals that DS-ALL is a heterogeneous disorder that comprises both t(12;21) and HeH as well as DS-related abnormalities. Furthermore, this analysis confirms that DS-AML is a distinct entity, originating through other genetic pathways than do non-DS-AMLs, and suggests that unbalanced changes such as dup(1q), +8, and +21 are involved in the leukemogenic process

This record has no associated files available for download.

More information

Published date: 2008
Keywords: nordic series, pathways, leukemia, transient myeloproliferative disorder, abnormalities, acute megakaryoblastic leukemia, childhood, b cell, children, time, aberrations, risk, 6q deletions, oncology-group, clinical characteristics, features

Identifiers

Local EPrints ID: 62741
URI: http://eprints.soton.ac.uk/id/eprint/62741
ISSN: 0006-4971
PURE UUID: 6d4f8825-c4ff-487f-ac05-4699a0706735

Catalogue record

Date deposited: 02 Sep 2008
Last modified: 15 Mar 2024 11:32

Export record

Altmetrics

Contributors

Author: E. Forestier
Author: S. Izraeli
Author: B. Beverloo
Author: O. Haas
Author: A. Pession
Author: K. Michalova
Author: B. Stark
Author: C.J. Harrison
Author: A. Teigler-Schlegel
Author: B. Johansson

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×