Intrachromosomal amplification of chromosome 21 (iAMP21) detected by ETV6/RUNX1 FISH screening in childhood acute lymphoblastic leukemia: a case report
Rev. bras. hematol. hemoter
;
35(5): 369-371, 2013. graf
Article
in English
| LILACS
| ID: lil-694069
ABSTRACT
Chromosome abnormalities that usually define high-risk acute lymphoblastic leukemia are the t(9;22)/ breakpoint cluster region protein-Abelson murine leukemia viral oncogene homolog 1, hypodiploid with < 44 chromosomes and 11q23/ myeloid/lymphoid leukemia gene rearrangements. The spectrum of acute lymphoblastic leukemia genetic abnormalities is nevertheless rapidly expanding. Therefore, newly described chromosomal aberrations are likely to have an impact on clinical care in the near future. Recently, the rare intrachromosomal amplification of chromosome 21 started to be considered a high-risk chromosomal abnormality. It occurs in approximately 2-5% of pediatric patients with B-cell precursor acute lymphoblastic leukemia. This abnormality is associated with a poor outcome. Hence, an accurate detection of this abnormality is expected to become very important in the choice of appropriate therapy. In this work the clinical and molecular cytogenetic evaluation by fluorescence in situ hybridization of a child with B-cell precursor acute lymphoblastic leukemia presenting the rare intrachromosomal amplification of chromosome 21 is described.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Transcription Factors
/
B-Lymphocytes
/
Leukemia, Biphenotypic, Acute
/
Leukemia, Lymphoid
/
Child
/
Gene Amplification
/
In Situ Hybridization, Fluorescence
/
Precursor Cell Lymphoblastic Leukemia-Lymphoma
/
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Type of study:
Diagnostic study
/
Screening study
Limits:
Humans
Language:
English
Journal:
Rev. bras. hematol. hemoter
Journal subject:
Hematology
Year:
2013
Type:
Article
/
Project document
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade Federal do Rio de Janeiro/BR
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