Mutations of the PML tumor suppressor gene in acute promyelocytic leukemia

Carmela Gurrieri, Khedoudja Nafa, Taha Merghoub, Rosa Bernardi, Paola Capodieci, Andrea Biondi, Stephen Nimer, Dan Douer, Carlos Cordon-Cardo, Robert Gallagher, Pier Paolo Pandolfi

Research output: Contribution to journalArticlepeer-review


The promyelocytic leukemia (PML) tumor suppressor of acute promyelocytic leukemia (APL) is essential for a number of proapoptotic and growth-suppressive pathways as well as for the activity of differentiating agents such as retinoic acid (RA). In human APL, the dose of PML is reduced to heterozygosity given that one allele is involved in the chromosomal translocation while the status of the remaining PML allele is unknown. We have therefore used single-strand conformational polymorphism (SSCP) and sequencing analysis to screen DNA from APL patients for mutations at the PML locus. We identified DNA sequence variations resulting in a truncated PML protein in APL cases that displayed RA resistance and a very poor prognosis. Mutation analysis also led to the identification of aberrant PML sequence variations in other hematopoletic malignancies. Complete functional loss of PML is therefore selected by the APL phenotype and associates with poor prognosis and RA unresponsiveness.

Original languageEnglish
Pages (from-to)2358-2362
Number of pages5
Issue number6
Publication statusPublished - Mar 15 2004

ASJC Scopus subject areas

  • Hematology


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