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Identification of a new translocation that disrupts the RUNX1 gene in a patient with de novo acute myeloid leukemia.

Authors
  • Lucena-Araujo, Antonio Roberto
  • de Figueiredo-Pontes, Lorena Lobo
  • de Oliveira, Fábio Morato
  • de Lourdes Chauffaille, Maria
  • Falcao, Roberto Passetto
  • Rego, Eduardo Magalhães
Type
Published Article
Journal
Medical Oncology
Publisher
Springer-Verlag
Publication Date
Jun 01, 2012
Volume
29
Issue
2
Pages
1114–1118
Identifiers
DOI: 10.1007/s12032-011-9890-3
PMID: 21380778
Source
Medline
License
Unknown

Abstract

Translocation (8;21)(q22;q22)/RUNX1-RUNX1T1 is a molecular marker that is usually associated with a favorable outcome in both pediatric and adult patients with acute myeloid leukemia (AML). The present report describes the results of hematologic, cytogenetic, and fluorescence in situ hybridization analysis of a case of AML with maturation in a 23-year-old woman. Cytogenetic analysis revealed a balanced translocation involving chromosomal band 21q22, which disrupts the RUNX1 gene, and 10q22, with the following karyotype: 45,X,-X,t(10;21)(q24;q22)[cp16]/46,XX [4]. Interphase FISH showed, in 67% of the 300 interphase nuclei analyzed, three signals for RUNX1 and two RUNX1T1, but no signals corresponding to RUNX1-RUNX1T1 fusion gene. These results were corroborated by RT-PCR, which revealed negative results for the amplification of RUNX1-RUNX1T1 fusion gene. The patient was refractory to conventional and salvage chemotherapy regimens and early relapsed after unrelated donor bone marrow transplantation (BMT), dying of pneumonia, acute respiratory failure, and sepsis on day +80 after BMT, 1 year after diagnosis.

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