Source:http://linkedlifedata.com/resource/pubmed/id/20067559
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
1
|
| pubmed:dateCreated |
2010-5-4
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| pubmed:abstractText |
Metaphase (M-) and array (A-) Comparative Genomic Hybridization (CGH) were used to investigate 40 cases of T- and 32 of B-cell acute lymphoblastic leukaemia (ALL) with normal/failed cytogenetics. M-CGH was performed in all cases and A-CGH in 10/12 T-ALL cases with uncertain/normal M-CGH results. M-CGH was abnormal in 38/72 cases, with a total of 110 imbalances (60 gains, 50 losses). 25/40 patients with T-ALL (62.5%) showed 77 imbalances, with at least 1 genomic imbalance and a mean of 3 aberrations/patient (range 1-12). 13/32 patients with B-ALL (40.6%) presented 34 imbalances, with a mean of 2.6 imbalances (range 1-8). A-CGH detected 4 more T-ALL cases with genomic imbalances. A-CGH identified NF1/17q11.2 deletion and interphase fluorescence in situ hybridization provided a 10.8% estimated overall incidence of NF1/17q11.2 deletion in T-ALL. In all but one case (6/7) with NF1 deletion, denaturing high-performance liquid chromatography and direct sequencing detected NOTCH1 gene mutations. Three or more imbalances in CGH-positive cases were significantly associated with resistance to treatment and death during or after induction therapy. We suggest that the work-up for ALL at diagnosis should include CGH investigations, particularly when cytogenetics is uninformative, because they may provide potentially valuable information with prognostic and therapeutic implications.
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| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
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| pubmed:month |
Apr
|
| pubmed:issn |
1365-2141
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| pubmed:author |
pubmed-author:BarbaGianlucaG,
pubmed-author:BrandimarteLuciaL,
pubmed-author:CuneoAntonioA,
pubmed-author:EliaLoredanaL,
pubmed-author:FoàRobinR,
pubmed-author:GIMEMA Acute Leukaemia Working Party, Italy,
pubmed-author:La StarzaRobertaR,
pubmed-author:ManciniMarcoM,
pubmed-author:MatteucciCaterinaC,
pubmed-author:MecucciCristinaC,
pubmed-author:PieriniValentinaV,
pubmed-author:Rege-CambrinGiovannaG,
pubmed-author:TestoniNicolettaN,
pubmed-author:VarasanoEmanuelaE,
pubmed-author:VignettiMarcoM,
pubmed-author:VitaleAntonellaA
|
| pubmed:issnType |
Electronic
|
| pubmed:volume |
149
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
70-8
|
| pubmed:meshHeading |
pubmed-meshheading:20067559-Adolescent,
pubmed-meshheading:20067559-Adult,
pubmed-meshheading:20067559-Chromosomes, Human, Pair 17,
pubmed-meshheading:20067559-Comparative Genomic Hybridization,
pubmed-meshheading:20067559-Female,
pubmed-meshheading:20067559-Gene Deletion,
pubmed-meshheading:20067559-Genes, Neurofibromatosis 1,
pubmed-meshheading:20067559-Genome,
pubmed-meshheading:20067559-Humans,
pubmed-meshheading:20067559-In Situ Hybridization, Fluorescence,
pubmed-meshheading:20067559-Male,
pubmed-meshheading:20067559-Metaphase,
pubmed-meshheading:20067559-Middle Aged,
pubmed-meshheading:20067559-Precursor Cell Lymphoblastic Leukemia-Lymphoma,
pubmed-meshheading:20067559-Prognosis,
pubmed-meshheading:20067559-Young Adult
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
Rescue of genomic information in adult acute lymphoblastic leukaemia (ALL) with normal/failed cytogenetics: a GIMEMA centralized biological study.
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| pubmed:affiliation |
Department of Clinical and Experimental Medicine, University of Perugia, Italy.
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| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
|