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International Journal of Hematology
Published in: International Journal of Hematology 4/2011

01-10-2011 | Case Report

A new four-way variant t(5;17;15;20)(q33;q12;q22;q11.2) in acute promyelocytic leukemia

Authors: Jun Yamanouchi, Takaaki Hato, Toshiyuki Niiya, Kazuhiro Miyoshi, Taichi Azuma, Ikuya Sakai, Masaki Yasukawa

Published in: International Journal of Hematology | Issue 4/2011

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Abstract

Acute promyelocytic leukemia (APL) is characterized by t(15;17)(q22;q21), which results in the fusion of the promyelocytic leukemia (PML) gene at 15q22 with the retinoic acid alpha-receptor (RARA) at 17q21. We report a patient with APL carrying a new complex variant translocation (5;17;15;20). Spectral karyotyping analysis of bone marrow cells revealed t(5;17;15;20)(q33;q12;q22;q11.2). Fluorescence in situ hybridization with a PML/RARA dual-color DNA probe showed a single fusion signal, and RT-PCR analysis showed PML/RARA fusion transcripts. Complete remission was attained with a course of conventional chemotherapy with all-trans retinoic acid (ATRA). To our knowledge, this is the first report of a four-way translocation of 5q33 and 20q11 involvement in APL.
Literature
1.
Rowley JD, Golomb HM, Dougherty C. 15/17 translocation, a consistent chromosomal change in acute promyelocytic leukaemia. Lancet. 1977;1:549–50.CrossRefPubMed
2.
de The H, Chomienne C, Lanotte M, Degos L, Dejean A. The t(15;17) translocation of acute promyelocytic leukaemia fuses the retinoic acid receptor alpha gene to a novel transcribed locus. Nature. 1990;347:558–61.CrossRefPubMed
3.
Melnick A, Licht JD. Deconstructing a disease: RARa, its fusion partners, and their roles in the pathogenesis of acute promyelocytic leukemia. Blood. 1999;93:3167–215.PubMed
4.
Chen SJ, Zelent A, Tong JH, Yu HQ, Wang ZY, Derre J, et al. Rearrangements of the retinoic acid receptor alpha and promyelocytic leukemia zinc finger genes resulting from t(11;17)(q23;q21) in a patient with acute promyelocytic leukemia. J Clin Invest. 1993;91:2260–7.CrossRefPubMedPubMedCentral
5.
Chen Z, Morgan R, Stone JF, Sandberg AA. Identification of complex t(15;17) in APL by FISH. Cancer Genet Cytogenet. 1994;72:73–4.CrossRefPubMed
6.
Yamamoto K, Hamaguchi H, Nagata K, Kobayashi M, Takashima T, Taniwaki M. A new complex translocation (15;20;17)(q22;p13;q21) in acute promyelocytic leukemia. Cancer Genet Cytogenet. 1998;101:89–94.CrossRefPubMed
7.
Wan TSK, Chim CS, So CK, Chan LC, Ma SK. Complex variant 15;17 translocations in acute promyelocytic leukemia. Cancer Genet Cytogenet. 1999;111:139–43.CrossRefPubMed
8.
Grimwade D, Biondi A, Mozziconacci MJ, Hagemeijer A, Berger R, Neat M, et al. Characterization of acute promyelocytic leukemia cases lacking the classic t(15;17): results of the European Working Party. Blood. 2000;96:1297–308.PubMed
9.
Liu S, Li Q, Pang W, Bo L, Qin S, Liu X, et al. A new complex variant t(4;15;17) in acute promyelocytic leukemia: fluorescence in situ hybridization confirmation and literature review. Cancer Genet Cytogenet. 2001;130:33–7.CrossRefPubMed
10.
Yoo SJ, Seo EJ, Lee JH, Seo YH, Park PW, Ahn JY. A complex, four-way variant t(15;17) in acute promyelocytic leukemia. Cancer Genet Cytogenet. 2006;167:168–71.CrossRefPubMed
11.
Abe S, Ishikawa I, Harigae H, Sugawara T. A new complex translocation t(5;17;15)(q11;q21;q22) in acute promyelocytic leukemia. Cancer Genet Cytogenet. 2008;184:44–7.CrossRefPubMed
12.
Shaffer LG, Slovak ML, Campbell LJ. ISCN 2009: an International System for Human Cytogenetic Nomenclature (2009). Basel: Karger; 2009.
13.
Castaigne S, Balitrand N, de The H, Dejean A, Degos L, Chomienne C. A PML/retinoic acid receptor alpha fusion transcript is constantly detected by RNA-based polymerase chain reaction in acute promyelocytic leukemia. Blood. 1992;79:3110–5.PubMed
14.
Erben P, Gosenca D, Muller MC, Reinhard J, Score J, del Valle F, et al. Screening for diverse PDGFRA or PDGFRB fusion genes is facilitated by generic quantitative reverse transcriptase polymerase chain reaction analysis. Haematologica. 2010;95:738–44.CrossRefPubMedPubMedCentral
15.
Baxter EJ, Kulkarni S, Vizmanos JL, Jaju R, Martinelli G, Testoni N, et al. Novel translocations that disrupt the platelet-derived growth factor receptor β (PDGFRB) gene in BCR–ABL-negative chronic myeloproliferative disorders. Br J Haematol. 2003;120:251–6.CrossRefPubMed
16.
Steer EJ, Cross NCP. Myeloproliferative disorders with translocations of 5q31–q35: role of the platelet-derived growth factor beta. Acta Haematol. 2002;107:113–22.CrossRefPubMed
17.
Wells RA, Catzavelos C, Kamel-Reid S. Fusion of retinoic acid receptor α to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. Nat Genet. 1997;17:109–13.CrossRefPubMed
18.
Redner RL, Rush EA, Faas S, Rudert WA, Corey SJ. The t(15;17) variant of acute promyelocytic leukemia expresses a nucleophosmin–retinoic acid receptor fusion. Blood. 1996;87:882–6.PubMed
Metadata
Title
A new four-way variant t(5;17;15;20)(q33;q12;q22;q11.2) in acute promyelocytic leukemia
Authors
Jun Yamanouchi
Takaaki Hato
Toshiyuki Niiya
Kazuhiro Miyoshi
Taichi Azuma
Ikuya Sakai
Masaki Yasukawa
Publication date
01-10-2011
Publisher
Springer Japan
Published in
International Journal of Hematology / Issue 4/2011
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI
https://doi.org/10.1007/s12185-011-0929-1

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