Document Detail


Acute leukemias with ETV6/ABL1 (TEL/ABL) fusion: poor prognosis and prenatal origin.
MedLine Citation:
PMID:  20589932     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The ETV6/ABL1 (TEL/ABL) fusion gene is a rare aberration in malignant disorders. Only 19 cases of ETV6/ABL1-positive hematological malignancy have been published, diagnosed with chronic myeloid leukemia, other types of chronic myeloproliferative neoplasm, acute myeloid leukemia or acute lymphoblastic leukemia (ALL). This study reports three new cases (aged 8 months, 5 years, and 33 years) of ALL with the ETV6/ABL1 fusion found by screening 392 newly diagnosed ALL patients (335 children and 57 adults). A thorough review of the literature and an analysis of all published data, including the three new cases, suggest poor prognosis of ETV6/ABL1-positive acute leukemias. The course of the disease in the two pediatric patients is characterized by minimal residual disease monitoring, using quantification of both the ETV6/ABL1 transcript and immunoreceptor gene rearrangements. Eosinophilia could not be confirmed as a hallmark of the ETV6/ABL1-positive disease. Studies of neonatal blood spots demonstrated that, in the child diagnosed at five years, the ETV6/ABL1 fusion initiating the ALL originated prenatally.
Authors:
Jan Zuna; Marketa Zaliova; Katerina Muzikova; Claus Meyer; Libuse Lizcova; Zuzana Zemanova; Jana Brezinova; Felix Votava; Rolf Marschalek; Jan Stary; Jan Trka
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  49     ISSN:  1098-2264     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  2010 Oct 
Date Detail:
Created Date:  2010-08-25     Completed Date:  2010-12-07     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  873-84     Citation Subset:  IM    
Affiliation:
Department of Pediatric Hematology and Oncology, CLIP (Childhood Leukaemia Investigation Prague), Charles University Prague, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. jan.zuna@lfmotol.cuni.cz
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MeSH Terms
Descriptor/Qualifier:
Adult
Child
Child, Preschool
Comparative Genomic Hybridization
Female
Gene Rearrangement
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Neonatal Screening
Neoplasm, Residual / diagnosis*,  genetics
Oligonucleotide Array Sequence Analysis
Oncogene Proteins, Fusion / genetics*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*,  pathology
Prognosis
Prospective Studies
Protein-Tyrosine Kinases / genetics*
RNA, Messenger / genetics
Reverse Transcriptase Polymerase Chain Reaction
Chemical
Reg. No./Substance:
0/Oncogene Proteins, Fusion; 0/RNA, Messenger; 0/TEL-ABL fusion protein, human; EC 2.7.10.1/Protein-Tyrosine Kinases

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