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

• Published in: International journal of hematology Vol. 94; no. 4; pp. 395 - 398
• Main Authors: Yamanouchi, Jun, Hato, Takaaki, Niiya, Toshiyuki, Miyoshi, Kazuhiro, Azuma, Taichi, Sakai, Ikuya, Yasukawa, Masaki
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.10.2011; Springer; Springer Nature B.V
• Subjects: Aged, 80 and over; Antineoplastic Agents - therapeutic use; APL; Biological and medical sciences; Case Report; Chromosome aberrations; Chromosomes, Human, Pair 15; Chromosomes, Human, Pair 17; Chromosomes, Human, Pair 20; Chromosomes, Human, Pair 5; Four-way translocation; Hematologic and hematopoietic diseases; Hematology; Humans; In Situ Hybridization, Fluorescence; Leukemia, Promyelocytic, Acute - genetics; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical genetics; Medical sciences; Medicine; Medicine & Public Health; Oncology; PML-RARA; Reverse Transcriptase Polymerase Chain Reaction; Translocation, Genetic; Tretinoin - therapeutic use; APL; PML–RARA; Four-way translocation; Chromosomal aberration; Promyelocytic leukemia; Genetic variability; Hematology; Acute; Genotype; Malignant hemopathy; Variant; PML-RARA; Abnormal chromosome E17; Abnormal chromosome D15; Cytogenetics; Abnormal chromosome; Abnormal chromosome C11; Hybrid gene; Cancer; M3 acute myelocytic leukemia; Chromosome translocation
• ISSN: 0925-5710; 1865-3774; 1865-3774
• DOI: 10.1007/s12185-011-0929-1

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.