A novel NUP98/RARG gene fusion in acute myeloid leukemia resembling acute promyelocytic leukemia.

Abstract

Chromosomal translocations in hematological malignancies often result in novel fusion chimeric genes. We report a case of acute myeloid leukemia with a clonal translocation t(11;12)(p15;q13) displaying morphologic and immunophenotypic features resembling the classical hypergranular subtype of acute promyelocytic leukemia. The gene fused to NUP98 (nucleoporin 98) was detected by comparative genomic hybridization array as the retinoid acid receptor gamma gene (RARG). The involvement of RARG in a chimeric fusion transcript has not been reported previously in human leukemia.

• Authors: Esperanza Such, José Cervera, Ana Valencia, Eva Barragán, Mariam Ibañez, Irene Luna, Oscar Fuster, Maria Luz Perez-Sirvent, Leonor Senent, Amparo Sempere, Jesús Martinez, Guillermo Martín-Aragonés, Miguel A Sanz
• Journal: Blood (Blood) Vol. 117 Issue 1 Pg. 242-5 (Jan 06 2011) ISSN: 1528-0020 [Electronic] United States
• PMID: 20935257 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Nuclear Pore Complex Proteins
• Nup98 protein, human
• Oncogene Proteins, Fusion
• Receptors, Retinoic Acid
• retinoic acid receptor gamma

Topics

• Adult
• Chromosomes, Human, Pair 11 (genetics)
• Chromosomes, Human, Pair 12 (genetics)
• Comparative Genomic Hybridization
• Diagnosis, Differential
• Gene Fusion
• Humans
• Immunophenotyping
• Leukemia, Myeloid, Acute (diagnosis, genetics)
• Leukemia, Promyelocytic, Acute (diagnosis, genetics)
• Male
• Nuclear Pore Complex Proteins (genetics)
• Oligonucleotide Array Sequence Analysis
• Oncogene Proteins, Fusion (genetics)
• Receptors, Retinoic Acid (genetics)
• Translocation, Genetic