Document Detail

Breakpoint-specific multiplex PCR allows the detection of IKZF1 intragenic deletions and minimal residual disease monitoring in B-cell precursor acute lymphoblastic leukemia.
MedLine Citation:
PMID:  23065506     Owner:  NLM     Status:  Publisher    
Deletion of the Ikaros (IKZF1) gene is an oncogenic lesion frequently associated with BCR-ABL1-positive acute lymphoblastic leukemias. It is also found in a fraction of BCR-ABL1-negative B-cell precursor acute lymphoblastic leukemias, and early studies showed it was associated with a higher risk of relapse. Therefore, screening tools are needed for evaluation in treatment protocols and possible inclusion in risk stratification. Beside monosomy 7 and large 7p abnormalities encompassing IKZF1, most IKZF1 alterations are short, intragenic deletions. Based on cohorts of patients, we mapped the microdeletions breakpoints and developed a breakpoint-specific fluorescent multiplex PCR which allows detection of recurrent intragenic deletions. This sensitive test could also detect IKZF1 sub-clonal deletions, whose prognostic significance should be evaluated. Moreover, we show that consensus breakpoint sequences can be used as clonal markers for minimal residual disease monitoring. This work should be useful for translational studies and clinical management of BCP-ALL. ( Identifier: NCT00003728).
Aurélie Caye; Kheïra Beldjord; Kelly Mass Malo; Séverine Drunat; Jean Soulier; Virginie Gandemer; André Baruchel; Yves Bertrand; Hélène Cavé; Emmanuelle Clappier
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-10-12
Journal Detail:
Title:  Haematologica     Volume:  -     ISSN:  1592-8721     ISO Abbreviation:  Haematologica     Publication Date:  2012 Oct 
Date Detail:
Created Date:  2012-10-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0417435     Medline TA:  Haematologica     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
UF de Genetique moleculaire, Hopital Robert Debre', APHP, Paris, France;
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