RAR-α gene rearrangements as a genetic marker for diagnosis and monitoring in acute promvelocytic leukemia

Andrea Biondi, Alessandro Rambaldi, Myriam Alcalay, Pier Paolo Pandolfi, Francesco Lo Coco, Daniela Diverio, Vincenzo Rossi, Amedea Mencarelli, Letizia Longo, Daniela Zangrilli, Giuseppe Masera, Tiziano Barbui, Franco Mandelli, Fausto Grignani, Pier Giuseppe Pelicci

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Abstract

Acute promyelocytic leukemias (APLs) are characterized by a translocation that involves chromosomes 15 and 17. The translocation breakpoints have recently been identified and shown to involve the RAR-α gene on 17 and myl on 15. Here we report Southern blotting analysis of 26 APLs, including cases with normal karyotypes and atypical morphology, which showed RAR-α rearrangements in 92% cases, myl rearrangements in 73%, and either RAR-α or myl rearrangements in 100%. Despite a negative clinical and morphologic picture, DNA rearrangement analysis showed that neoplastic promyelocytes persisted in the bone marrow of two patients sampled after induction chemotherapy. Therefore, the RAR-α and myl rearrangements provide molecular markers for accurately diagnosing APLs and monitoring the course of the disease during and after chemotherapy.

Original languageEnglish
Pages (from-to)1418-1422
Number of pages5
JournalBlood
Volume77
Issue number7
Publication statusPublished - Apr 1 1991

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Acute Promyelocytic Leukemia
Chemotherapy
Gene Rearrangement
Genetic Markers
Leukemia
Genes
Monitoring
Chromosomes
Chromosomes, Human, Pair 15
Granulocyte Precursor Cells
Bone
Chromosomes, Human, Pair 17
Induction Chemotherapy
Southern Blotting
Karyotype
DNA
Bone Marrow
Drug Therapy

ASJC Scopus subject areas

  • Hematology

Cite this

RAR-α gene rearrangements as a genetic marker for diagnosis and monitoring in acute promvelocytic leukemia. / Biondi, Andrea; Rambaldi, Alessandro; Alcalay, Myriam; Pandolfi, Pier Paolo; Lo Coco, Francesco; Diverio, Daniela; Rossi, Vincenzo; Mencarelli, Amedea; Longo, Letizia; Zangrilli, Daniela; Masera, Giuseppe; Barbui, Tiziano; Mandelli, Franco; Grignani, Fausto; Pelicci, Pier Giuseppe.

In: Blood, Vol. 77, No. 7, 01.04.1991, p. 1418-1422.

Research output: Contribution to journalArticle

Biondi, A, Rambaldi, A, Alcalay, M, Pandolfi, PP, Lo Coco, F, Diverio, D, Rossi, V, Mencarelli, A, Longo, L, Zangrilli, D, Masera, G, Barbui, T, Mandelli, F, Grignani, F & Pelicci, PG 1991, 'RAR-α gene rearrangements as a genetic marker for diagnosis and monitoring in acute promvelocytic leukemia', Blood, vol. 77, no. 7, pp. 1418-1422.
Biondi, Andrea ; Rambaldi, Alessandro ; Alcalay, Myriam ; Pandolfi, Pier Paolo ; Lo Coco, Francesco ; Diverio, Daniela ; Rossi, Vincenzo ; Mencarelli, Amedea ; Longo, Letizia ; Zangrilli, Daniela ; Masera, Giuseppe ; Barbui, Tiziano ; Mandelli, Franco ; Grignani, Fausto ; Pelicci, Pier Giuseppe. / RAR-α gene rearrangements as a genetic marker for diagnosis and monitoring in acute promvelocytic leukemia. In: Blood. 1991 ; Vol. 77, No. 7. pp. 1418-1422.
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