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

Riferimento: 
Int J Hematol. 2011 Oct;94(4):395-8.
Autori: 
Yamanouchi J, Hato T, Niiya T, Miyoshi K, Azuma T, Sakai I, Yasukawa M. yamanouc@m.ehime-u.ac.jp
Fonte: 
Int J Hematol. 2011 Oct;94(4):395-8.
Anno: 
2011
Azione: 
Remissione completa da leucemia acuta promielocitica (APL) è stata raggiunta con un ciclo di chemioterapia convenzionale con acido all-trans retinoico (ATRA).
Target: 
ATRA/leucemia acuta promielocitica.

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.

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