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Review paper
Published online: 2021-10-18
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Acute promyelocytic leukemia: from genetic lesions identification to molecularly targeted therapy

Marcelina Majka1, Paweł Bednarek1, Matylda Nowicki1, Jagoda Chełmikowska1, Krystian Kaczmarek1, Eliza Kędzierska1, Krzysztof Lewandowski1
DOI: 10.5603/HCP.a2021.0009
Affiliations
  1. Department of Hematology and Bone Marrow Transplantation, Medical Faculty, Poznan University of Medical Sciences, Poznan, Poland

open access

Ahead of print
REVIEW ARTICLES
Published online: 2021-10-18

Abstract

Acute promyelocytic leukemia (APL) differs from other types of acute myeloid leukemia both in terms of the spectrum of clinical symptoms, as well as cytogenetic and molecular background. Fast diagnosis of APL enables highly effective targeted therapy initiation and avoiding of serious organ/tissue damage (including fatal bleeding into the central nervous system). In the initial diagnostic process the most important is the rapid identification of the presence of specific cytogenetic and molecular changes involving the retinoic acid receptor alpha (RARA) gene located on the 17q21 chromosome. In patients with APL, alongside the most commonly observed translocation t(15;17)(q24;q21) leading to the formation of the PML-RARA fusion, several dozen variant cases have also been identified as a result of other translocations involving RARA gene with different clinical symptomatology and variable sensitivity to the targeted therapy with all-trans retinoic acid and arsenic trioxide. The paper presents the recent data concerning the epidemiology, symptomatology and accurate diagnostics methods useful for early identification of APL and immediate initiation of the molecularly targeted therapy

Abstract

Acute promyelocytic leukemia (APL) differs from other types of acute myeloid leukemia both in terms of the spectrum of clinical symptoms, as well as cytogenetic and molecular background. Fast diagnosis of APL enables highly effective targeted therapy initiation and avoiding of serious organ/tissue damage (including fatal bleeding into the central nervous system). In the initial diagnostic process the most important is the rapid identification of the presence of specific cytogenetic and molecular changes involving the retinoic acid receptor alpha (RARA) gene located on the 17q21 chromosome. In patients with APL, alongside the most commonly observed translocation t(15;17)(q24;q21) leading to the formation of the PML-RARA fusion, several dozen variant cases have also been identified as a result of other translocations involving RARA gene with different clinical symptomatology and variable sensitivity to the targeted therapy with all-trans retinoic acid and arsenic trioxide. The paper presents the recent data concerning the epidemiology, symptomatology and accurate diagnostics methods useful for early identification of APL and immediate initiation of the molecularly targeted therapy
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Keywords

acute promyelocytic leukemia, epidemiology, clinical manifestation, laboratory changes, karyotype anomalies, molecular defects, targeted therapy, all-trans retinoic acid, arsenic trioxide, measurable residual disease, epidemiology, prognosis

About this article
Title

Acute promyelocytic leukemia: from genetic lesions identification to molecularly targeted therapy

Journal

Hematology in Clinical Practice

Issue

Ahead of print

Article type

Review paper

Published online

2021-10-18

DOI

10.5603/HCP.a2021.0009

Keywords

acute promyelocytic leukemia
epidemiology
clinical manifestation
laboratory changes
karyotype anomalies
molecular defects
targeted therapy
all-trans retinoic acid
arsenic trioxide
measurable residual disease
epidemiology
prognosis

Authors

Marcelina Majka
Paweł Bednarek
Matylda Nowicki
Jagoda Chełmikowska
Krystian Kaczmarek
Eliza Kędzierska
Krzysztof Lewandowski

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