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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00003834naa a2200481 4500
001oai:DiVA.org:umu-18036
003SwePub
008080112s2007 | |||||||||||000 ||eng|
009oai:lup.lub.lu.se:2aad6b30-bdea-460d-8cf9-dbc8651c5c8d
024a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-180362 URI
024a https://lup.lub.lu.se/record/11988372 URI
024a https://doi.org/10.1182/blood-2007-09-1142312 DOI
040 a (SwePub)umud (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
100a Forestier, Eriku Umeå universitet,Pediatrik4 aut0 (Swepub:umu)erfo0007
2451 0a Cytogenetic features of acute lymphoblastic and myeloid leukemias in pediatric patients with Down syndrome - an iBFM-SG study.
264 1b American Society of Hematology,c 2007
338 a print2 rdacarrier
520 a Children with Down syndrome (DS) have a markedly increased risk of acute lymphoblastic and myeloid leukemias (ALL+AML). To identify chromosomal changes cooperating with +21 that may provide information on the pathogenesis of these leukemias, we analyzed 215 DS-ALL and 189 DS-AML. Unlike previous smaller series, a significant proportion of DS-ALL had the typical B-cell precursor ALL abnormalities high hyperdiploidy (HeH; 11%) and t(12;21)(p13;q22) (10%). The HeH DS-ALL 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-AML, and suggests that unbalanced changes such as dup(1q), +8, and +21 are involved in the leukemogenic process.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Hematologi0 (SwePub)302022 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Hematology0 (SwePub)302022 hsv//eng
653 a Leukemia
653 a Down syndrome
653 a children
700a Izraeli, Shai4 aut
700a Beverloo, Berna4 aut
700a Haas, Oskar4 aut
700a Pession, Andrea4 aut
700a Michalova, Kyra4 aut
700a Stark, Batia4 aut
700a Harrison, Christine J4 aut
700a Teigler-Schlegel, Andrea4 aut
700a Johansson, Bertilu Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Genetiska och epigenetiska studier av barnleukemi,Forskargrupper vid Lunds universitet,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Genetic and epigenetic studies of pediatric leukemia,Lund University Research Groups,Skåne University Hospital4 aut0 (Swepub:lu)kgen-bjo
710a Umeå universitetb Pediatrik4 org
773t Bloodd : American Society of Hematologyx 0006-4971x 1528-0020
856u http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed&cmd=Retrieve&list_uids=17971484&dopt=Citation
856u http://dx.doi.org/10.1182/blood-2007-09-114231x freey FULLTEXT
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-18036
8564 8u https://lup.lub.lu.se/record/1198837
8564 8u https://doi.org/10.1182/blood-2007-09-114231

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