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Vol. 118, No. 3, 2007
Issue release date: October 2007
Section title: Case Report
Acta Haematol 2007;118:183–187
(DOI:10.1159/000109471)

Identification of Atypical PML-RARA Breakpoint in a Patient with Acute Promyelocytic Leukemia

Ismail S. · Ababneh N. · Awidi A.
Faculty of Medicine, University of Jordan, Amman, Jordan

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Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 5/18/2007
Accepted: 8/7/2007
Published online: 10/11/2007
Issue release date: October 2007

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 0

ISSN: 0001-5792 (Print)
eISSN: 1421-9662 (Online)

For additional information: http://www.karger.com/AHA

Abstract

Acute promyelocytic leukemia (APL) of the M3 subtype is characterized by translocation t(15;17) that generates the PML-RARA fusion gene. Depending on the breakpoint position in the PML gene, 3 main fusion transcripts usually result. These breakpoints are bcr1 and bcr3 in introns 6 and 3, respectively, and bcr2 in exon 6. This report describes a rare atypical bcr2 breakpoint in a patient with morphological, cytogenetic and molecular features of APL. The presence of t(15;17) was first revealed by fluorescent in situ hybridization. Molecular analysis by reverse transcription polymerase chain reaction using primers for different PML-RARA junctions showed bands with different sizes compared with those generated from the three classical breakpoints, namely bcr1, bcr2 and bcr3. However, sequence analysis confirmed the presence of a bcr2 transcript with an atypical breakpoint within exon 6. The patient responded well to treatment and is now in complete remission. However, suggesting a favorable prognosis associated with such a rare transcript is difficult as more similar cases are needed to confirm such a conclusion. This article also stresses the importance of sequencing unusual polymerase chain reaction products to confirm their nature.

© 2007 S. Karger AG, Basel


  

Author Contacts

Dr. Said Ismail
Department of Biochemistry, Molecular Biology Research Laboratory
Faculty of Medicine, University of Jordan
Amman 11942 (Jordan)
Tel. +962 795 721 101, Fax +962 6 535 6746, E-Mail sismail@ju.edu.jo

  

Article Information

Received: May 18, 2007
Accepted after revision: August 7, 2007
Published online: October 11, 2007
Number of Print Pages : 5
Number of Figures : 4, Number of Tables : 0, Number of References : 17

  

Publication Details

Acta Haematologica

Vol. 118, No. 3, Year 2007 (Cover Date: October 2007)

Journal Editor: Ben-Bassat, I. (Tel Hashomer)
ISSN: 0001–5792 (print), 1421–9662 (Online)

For additional information: http://www.karger.com/AHA


Article / Publication Details

First-Page Preview
Abstract of Case Report

Received: 5/18/2007
Accepted: 8/7/2007
Published online: 10/11/2007
Issue release date: October 2007

Number of Print Pages: 5
Number of Figures: 4
Number of Tables: 0

ISSN: 0001-5792 (Print)
eISSN: 1421-9662 (Online)

For additional information: http://www.karger.com/AHA


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