Search: onr:"swepub:oai:DiVA.org:umu-90864" > An international st...
Fältnamn | Indikatorer | Metadata |
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000 | 04038naa a2200745 4500 | |
001 | oai:DiVA.org:umu-90864 | |
003 | SwePub | |
008 | 140701s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-908642 URI |
024 | 7 | a https://doi.org/10.1038/leu.2013.3172 DOI |
040 | a (SwePub)umu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Harrison, C. J.4 aut |
245 | 1 0 | a An international study of intrachromosomal amplification of chromosome 21 (iAMP21) :b cytogenetic characterization and outcome |
264 | c 2013-10-29 | |
264 | 1 | b Springer Science and Business Media LLC,c 2014 |
338 | a print2 rdacarrier | |
520 | a Intrachromosomal amplification of chromosome 21 (iAMP21) defines a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukaemia (BCP-ALL). To date, fluorescence in situ hybridisation (FISH), with probes specific for the RUNX1 gene, provides the only reliable detection method (five or more RUNX1 signals per cell). Patients with iAMP21 are older (median age 9 years) with a low white cell count. Previously, we demonstrated a high relapse risk when these patients were treated as standard risk. Recent studies have shown improved outcome on intensive therapy. In view of these treatment implications, accurate identification is essential. Here we have studied the cytogenetics and outcome of 530 iAMP21 patients that highlighted the association of specific secondary chromosomal and genetic changes with iAMP21 to assist in diagnosis, including the gain of chromosome X, loss or deletion of chromosome 7, ETV6 and RB1 deletions. These iAMP21 patients when treated as high risk showed the same improved outcome as those in trial-based studies regardless of the backbone chemotherapy regimen given. This study reinforces the importance of intensified treatment to reduce the risk of relapse in iAMP21 patients. This now well-defined patient subgroup should be recognised by World Health Organisation (WHO) as a distinct entity of BCP-ALL. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a iAMP21 | |
653 | a genetics | |
653 | a outcome | |
653 | a poor prognosis | |
653 | a BCP-ALL | |
653 | a chromosomal abnormalities | |
700 | 1 | a Moorman, A. V.4 aut |
700 | 1 | a Schwab, C.4 aut |
700 | 1 | a Carroll, A. J.4 aut |
700 | 1 | a Raetz, E. A.4 aut |
700 | 1 | a Devidas, M.4 aut |
700 | 1 | a Strehl, S.4 aut |
700 | 1 | a Nebral, K.4 aut |
700 | 1 | a Harbott, J.4 aut |
700 | 1 | a Teigler-Schlegel, A.4 aut |
700 | 1 | a Zimmerman, M.4 aut |
700 | 1 | a Dastuge, N.4 aut |
700 | 1 | a Baruchel, A.4 aut |
700 | 1 | a Soulier, J.4 aut |
700 | 1 | a Auclerc, M-F4 aut |
700 | 1 | a Attarbaschi, A.4 aut |
700 | 1 | a Mann, G.4 aut |
700 | 1 | a Stark, B.4 aut |
700 | 1 | a Cazzaniga, G.4 aut |
700 | 1 | a Chilton, L.4 aut |
700 | 1 | a Vandenberghe, P.4 aut |
700 | 1 | a Forestier, Eriku Umeå universitet,Medicinsk och klinisk genetik4 aut0 (Swepub:umu)erfo0007 |
700 | 1 | a Haltrich, I.4 aut |
700 | 1 | a Raimondi, S. C.4 aut |
700 | 1 | a Parihar, M.4 aut |
700 | 1 | a Bourquin, J-P4 aut |
700 | 1 | a Tchinda, J.4 aut |
700 | 1 | a Haferlach, C.4 aut |
700 | 1 | a Vora, A.4 aut |
700 | 1 | a Hunger, S. P.4 aut |
700 | 1 | a Heerema, N. A.4 aut |
700 | 1 | a Haas, O. A.4 aut |
710 | 2 | a Umeå universitetb Medicinsk och klinisk genetik4 org |
773 | 0 | t Leukemiad : Springer Science and Business Media LLCg 28:5, s. 1015-1021q 28:5<1015-1021x 0887-6924x 1476-5551 |
856 | 4 | u https://www.nature.com/articles/leu2013317.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-90864 |
856 | 4 8 | u https://doi.org/10.1038/leu.2013.317 |
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