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      Call for Papers: Digital Diagnostic Techniques

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      An Acute Promyelocytic Leukemia Resistant to All-Trans Retinoic Acid: A Case Report of the ZBTB16::RARa Variant and Review of the Literature

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          Abstract

          Introduction

          Acute promyelocytic leukemia (APL) is characterized by the PML::RARa gene fusion and treatment consists of all-trans retinoic acid (ATRA). Rarely, genetic APL variants have been described which are insensitive to ATRA treatment and are therefore associated with a worse prognosis. Rapid identification of the APL variant is essential to start the correct treatment.

          Case Presentation

          Here, we present a case of a 66-year-old male patient with weight loss and arthralgia. Laboratory results showed an anemia and mild leukocytosis with predominantly monocytes. Bone marrow investigation unexpectedly revealed a t(11;17)(q23;q21). This raised suspicion of an ATRA-resistant APL. By demonstrating the ZBTB16::RARa gene fusion, the diagnosis was confirmed.

          Conclusion

          This case study emphasizes the importance of integrated diagnostics and provides guidance to recognize the ZBTB16::RARa APL, which is the most prevalent ATRA-resistant APL. Furthermore, an overview of other genetic APL variants is presented and how to treat these uncommon diseases in clinical practice.

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          PML/RARA oxidation and arsenic binding initiate the antileukemia response of As2O3.

          Marion Jeanne, Brian Raught, Valérie Lallemand-Breitenbach … (2010)
          As(2)O(3) cures acute promyelocytic leukemia (APL) by initiating PML/RARA oncoprotein degradation, through sumoylation of its PML moiety. However, how As(2)O(3) initiates PML sumoylation has remained largely unexplained. As(2)O(3) binds vicinal cysteines and increases reactive oxygen species (ROS) production. We demonstrate that upon As(2)O(3) exposure, PML undergoes ROS-initiated intermolecular disulfide formation and binds arsenic directly. Disulfide-linked PML or PML/RARA multimers form nuclear matrix-associated nuclear bodies (NBs), become sumoylated and are degraded. Hematopoietic progenitors transformed by an As(2)O(3)-binding PML/RARA mutant exhibit defective As(2)O(3) response. Conversely, nonarsenical oxidants elicit PML/RARA multimerization, NB-association, degradation, and leukemia response in vivo, but do not affect PLZF/RARA-driven APLs. Thus, PML oxidation regulates NB-biogenesis, while oxidation-enforced PML/RARA multimerization and direct arsenic-binding cooperate to enforce APL's exquisite As(2)O(3) sensitivity. Copyright (c) 2010 Elsevier Inc. All rights reserved.
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            Fusion between a novel Krüppel-like zinc finger gene and the retinoic acid receptor-alpha locus due to a variant t(11;17) translocation associated with acute promyelocytic leukaemia.

            S Waxman, Arthur Zelent, Zhao Chen … (1993)
            We have identified a unique case of acute promyelocytic leukaemia (APL) with a t(11;17) reciprocal chromosomal translocation involving the retinoic acid receptor alpha (RAR alpha) and a previously uncharacterized zinc finger gene. As a result of this translocation, mRNAs containing the coding sequences of the new gene, fused in-frame either upstream of the RAR alpha B region or downstream from the unique A1 and A2 regions of the two major RAR alpha isoforms, are expressed from the rearranged alleles. The above gene, which we have termed PLZF (for promyelocytic leukaemia zinc finger), encodes a potential transcription factor containing nine zinc finger motifs related to the Drosophila gap gene Krüppel and is expressed as at least two isoforms which differ in the sequences encoding the N-terminal region of the protein. Within the haematopoietic system the PLZF mRNAs were detected in the bone marrow, early myeloid cell lines and peripheral blood mononuclear cells, but not in lymphoid cell lines or tissues. In addition, the PLZF mRNA levels were down-regulated in NB-4 and HL-60 promyelocytic cell lines in response to retinoic acid-induced granulocytic differentiation and were very low in mature granulocytes. Our results demonstrate for the first time the association of a variant chromosomal translocation involving the RAR alpha gene with APL, further implicating the RAR alpha in leukaemogenesis and also suggesting an important role for PLZF as well as retinoic acid and its receptors in myeloid maturation.
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              The Promyelocytic Leukemia Zinc Finger Protein: Two Decades of Molecular Oncology

              Bandar Ali Suliman, Dakang Xu, Bryan Williams (2012)
              The promyelocytic leukemia zinc finger (PLZF) protein, also known as Zbtb16 or Zfp145, was first identified in a patient with acute promyelocytic leukemia, where a reciprocal chromosomal translocation t(11;17)(q23;q21) resulted in a fusion with the RARA gene encoding retinoic acid receptor alpha. The wild-type Zbtb16 gene encodes a transcription factor that belongs to the POK (POZ and Krüppel) family of transcriptional repressors. In addition to nine Krüppel-type sequence-specific zinc fingers, which make it a member of the Krüppel-like zinc finger protein family, the PLZF protein contains an N-terminal BTB/POZ domain and RD2 domain. PLZF has been shown to be involved in major developmental and biological processes, such as spermatogenesis, hind limb formation, hematopoiesis, and immune regulation. PLZF is localized mainly in the nucleus where it exerts its transcriptional repression function, and many post-translational modifications affect this ability and also have an impact on its cytoplasmic/nuclear dissociation. PLZF achieves its transcriptional regulation by binding to many secondary molecules to form large multi-protein complexes that bind to the regulatory elements in the promoter region of the target genes. These complexes are also capable of physically interacting with its target proteins. Recently, PLZF has become implicated in carcinogenesis as a tumor suppressor gene, since it regulates the cell cycle and apoptosis in many cell types. This review will examine the major advances in our knowledge of PLZF biological activities that augment its value as a therapeutic target, particularly in cancer and immunological diseases.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Case Rep Oncol
                Journal ID (iso-abbrev): Case Rep Oncol
                Journal ID (hwp): CRO
                Journal ID (publisher-id): CRO
                Title: Case Reports in Oncology
                Publisher: S. Karger AG (Basel, Switzerland )
                ISSN (Electronic): 1662-6575
                Publication date (Electronic): 23 November 2023
                Publication date Collection: Jan-Dec 2023
                Publication date PMC-release: 23 November 2023
                Volume: 16
                Issue: 1
                Pages: 1443-1450
                Affiliations
                [a ]Department of Hematology, Amsterdam University Medical Centers, Amsterdam, The Netherlands
                [b ]Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, The Netherlands
                Author notes
                Correspondence to: Daan A.R. Castelijn, d.castelijn@ 123456amsterdamumc.nl
                Article
                Publisher ID: 534862
                DOI: 10.1159/000534862
                PMC ID: 10666957
                SO-VID: c3dd03dd-cf51-4353-8a68-9240bbcec88b
                Copyright © © 2023 The Author(s). Published by S. Karger AG, Basel
                License:

                This article is licensed under the Creative Commons Attribution 4.0 International License (CC BY) ( http://www.karger.com/Services/OpenAccessLicense). Usage, derivative works and distribution are permitted provided that proper credit is given to the author and the original publisher.

                History
                Date received : 6 October 2023
                Date accepted : 25 October 2023
                Date: 2023
                Page count
                Figures: 3, Tables: 2, References: 16, Pages: 8
                Funding
                This study was not supported by any sponsor or funder.
                Categories
                Subject: Case Report

                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: case report,acute promyelocytic leukemia,zbtb16::rara,all-trans retinoic acid resistance,integrated diagnostics,t(11;17)(q23;q21),cytomorphology
                Data availability:
                ScienceOpen disciplines: Oncology & Radiotherapy
                Keywords: case report, acute promyelocytic leukemia, zbtb16::rara, all-trans retinoic acid resistance, integrated diagnostics, t(11;17)(q23;q21), cytomorphology

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