Rearrangements and aberrant expression of the retinoic acid receptor α gene in acute promyelocytic leukemias

Letizia Longo, Pier Paolo Pandolfi, Andrea Biondi, Alessandro Rambaldi, Amedea Mencarelli, Francesco Lo Coco, Daniela Diverio, Luigi Pegoraro, Giancarlo Avanzi, Antonio Tabilio, Daniela Zangrilli, Myriam Alcalay, Emilio Donti, Fausto Grignani, Pier Giuseppe Pelicci

Research output: Contribution to journalArticle

Abstract

Although acute promyelocytic leukemias (APLs) are consistently associated with a reciprocal chromosome 15;17 translocation, the gene(s) directly affected by the breakpoints have never been isolated. The chromosome 17 breakpoint maps to near the retinoic acid receptor α (RARa) locus. Investigation of 20 APLs and a large series of other neoplastic patients and normal controls revealed RARα gene rearrangements and aberrant transcripts only in the APL cases. These findings suggest that the RARα gene is involved in the APL chromosome 17 breakpoint, is implicated in leukemogenesis, and could be used as a marker for identifying leukemic promyelocytes.

Original languageEnglish
Pages (from-to)1571-1575
Number of pages5
JournalJournal of Experimental Medicine
Volume172
Issue number6
Publication statusPublished - Dec 1 1990

ASJC Scopus subject areas

  • Immunology

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    Longo, L., Pandolfi, P. P., Biondi, A., Rambaldi, A., Mencarelli, A., Lo Coco, F., Diverio, D., Pegoraro, L., Avanzi, G., Tabilio, A., Zangrilli, D., Alcalay, M., Donti, E., Grignani, F., & Pelicci, P. G. (1990). Rearrangements and aberrant expression of the retinoic acid receptor α gene in acute promyelocytic leukemias. Journal of Experimental Medicine, 172(6), 1571-1575.