Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study
(2008) In Blood 111(3). p.1575-1583- 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... (More)
- 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. (Less)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1198837
- author
- Forestier, Erik ; Izraeli, Shai ; Beverloo, Bernal ; Haas, Oskar ; Pession, Andrea ; Michalova, Kyra ; Stark, Batia ; Harrison, Christine J. ; Teigler-Schlegel, Andrea and Johansson, Bertil LU
- organization
- publishing date
- 2008
- type
- Contribution to journal
- publication status
- published
- subject
- in
- Blood
- volume
- 111
- issue
- 3
- pages
- 1575 - 1583
- publisher
- American Society of Hematology
- external identifiers
-
- wos:000252792900089
- scopus:38949098169
- ISSN
- 1528-0020
- DOI
- 10.1182/blood-2007-09-114231
- language
- English
- LU publication?
- yes
- id
- 2aad6b30-bdea-460d-8cf9-dbc8651c5c8d (old id 1198837)
- date added to LUP
- 2016-04-01 12:28:26
- date last changed
- 2022-03-29 01:24:25
@article{2aad6b30-bdea-460d-8cf9-dbc8651c5c8d, 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.}}, author = {{Forestier, Erik and Izraeli, Shai and Beverloo, Bernal and Haas, Oskar and Pession, Andrea and Michalova, Kyra and Stark, Batia and Harrison, Christine J. and Teigler-Schlegel, Andrea and Johansson, Bertil}}, issn = {{1528-0020}}, language = {{eng}}, number = {{3}}, pages = {{1575--1583}}, publisher = {{American Society of Hematology}}, series = {{Blood}}, title = {{Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome: an iBFM-SG study}}, url = {{http://dx.doi.org/10.1182/blood-2007-09-114231}}, doi = {{10.1182/blood-2007-09-114231}}, volume = {{111}}, year = {{2008}}, }