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RAR-alpha gene rearrangements as a genetic marker for diagnosis and
monitoring in acute promyelocytic leukemia
A Biondi, A Rambaldi, M Alcalay, PP Pandolfi, F Lo Coco, D Diverio, V Rossi, A Mencarelli, L Longo and D Zangrilli
Clinica Pediatrica Universita di Milano, Ospedale S. Gerardo, Monza, Italy.
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- alpha 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-alpha rearrangements in 92% cases, myl rearrangements in 73%, and
either RAR-alpha 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-alpha and myl rearrangements
provide molecular markers for accurately diagnosing APLs and monitoring the
course of the disease during and after chemotherapy.
Volume 77,
Issue 7,
pp. 1418-1422,
04/01/1991
Copyright © 1991 by The American Society of Hematology
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