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

详细信息    查看全文

• 作者：Jun Yamanouchi (1)
  Takaaki Hato (2)
  Toshiyuki Niiya (3)
  Kazuhiro Miyoshi (1)
  Taichi Azuma (1)
  Ikuya Sakai (1)
  Masaki Yasukawa (1)
  
• 关键词：APL ; Four ; way translocation ; PML鈥揜ARA
• 刊名：International Journal of Hematology
• 出版年：2011
• 出版时间：October 2011
• 年：2011
• 卷：94
• 期：4
• 页码：395-398
• 全文大小：1677KB
• 参考文献：1. Rowley JD, Golomb HM, Dougherty C. 15/17 translocation, a consistent chromosomal change in acute promyelocytic leukaemia. Lancet. 1977;1:549鈥?0. CrossRef
  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鈥?1. CrossRef
  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鈥?15.
  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鈥?. CrossRef
  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鈥?. CrossRef
  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鈥?4. CrossRef
  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鈥?3. CrossRef
  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鈥?08.
  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鈥?. CrossRef
  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鈥?1. CrossRef
  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鈥?. CrossRef
  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鈥?.
  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鈥?4. CrossRef
  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 尾 (PDGFRB) gene in BCR鈥揂BL-negative chronic myeloproliferative disorders. Br J Haematol. 2003;120:251鈥?. CrossRef
  16. Steer EJ, Cross NCP. Myeloproliferative disorders with translocations of 5q31鈥搎35: role of the platelet-derived growth factor beta. Acta Haematol. 2002;107:113鈥?2. CrossRef
  17. Wells RA, Catzavelos C, Kamel-Reid S. Fusion of retinoic acid receptor 伪 to NuMA, the nuclear mitotic apparatus protein, by a variant translocation in acute promyelocytic leukaemia. Nat Genet. 1997;17:109鈥?3. CrossRef
  18. Redner RL, Rush EA, Faas S, Rudert WA, Corey SJ. The t(15;17) variant of acute promyelocytic leukemia expresses a nucleophosmin鈥搑etinoic acid receptor fusion. Blood. 1996;87:882鈥?.
  
• 作者单位：Jun Yamanouchi (1)
  Takaaki Hato (2)
  Toshiyuki Niiya (3)
  Kazuhiro Miyoshi (1)
  Taichi Azuma (1)
  Ikuya Sakai (1)
  Masaki Yasukawa (1)
  
  1. Departments of Bioregulatory Medicine, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime, 7910295, Japan
  2. Blood Transfusion and Cell Therapy, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime, 7910295, Japan
  3. Laboratory Medicine, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime, 7910295, Japan
  

文摘

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.