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Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms
The Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evol...
Autores principales: | , , , |
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Formato: | Texto |
Lenguaje: | English |
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Dove Medical Press
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004566/ https://www.ncbi.nlm.nih.gov/pubmed/21188113 http://dx.doi.org/10.2147/CMR.S12829 |
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author | Tripodi, Joseph Hoffman, Ronald Najfeld, Vesna Weinberg, Rona |
author_facet | Tripodi, Joseph Hoffman, Ronald Najfeld, Vesna Weinberg, Rona |
author_sort | Tripodi, Joseph |
collection | PubMed |
description | The Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evolve into acute leukemia. These diseases not only share overlapping chromosomal abnormalities but also a number of acquired somatic mutations. Recently, mutations in a putative tumor suppressor gene, ten-eleven translocation 2 (TET2) on chromosome 4q24 have been identified in 12% of patients with MPN. Additionally 4q24 chromosomal rearrangements in MPN, including TET2 deletions, have also been observed using conventional cytogenetics. The goal of this study was to investigate the frequency of genomic TET2 rearrangements in MPN using fluorescence in situ hybridization as a more sensitive method for screening and identifying genomic deletions. Among 146 MPN patients, we identified two patients (1.4%) who showed a common 4q24 deletion, including TET2. Our observations also indicated that the frequency of TET2 deletion is increased in patients with an abnormal karyotype (5%). |
format | Text |
id | pubmed-3004566 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-30045662010-12-23 Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms Tripodi, Joseph Hoffman, Ronald Najfeld, Vesna Weinberg, Rona Cancer Manag Res Original Research The Philadelphia chromosome (Ph)-negative myeloproliferative neoplasms (MPNs), including polycythemia vera, essential thrombocythemia, and primary myelofibrosis, are a group of clonal hematopoietic stem cell disorders with overlapping clinical and cytogenetic features and a variable tendency to evolve into acute leukemia. These diseases not only share overlapping chromosomal abnormalities but also a number of acquired somatic mutations. Recently, mutations in a putative tumor suppressor gene, ten-eleven translocation 2 (TET2) on chromosome 4q24 have been identified in 12% of patients with MPN. Additionally 4q24 chromosomal rearrangements in MPN, including TET2 deletions, have also been observed using conventional cytogenetics. The goal of this study was to investigate the frequency of genomic TET2 rearrangements in MPN using fluorescence in situ hybridization as a more sensitive method for screening and identifying genomic deletions. Among 146 MPN patients, we identified two patients (1.4%) who showed a common 4q24 deletion, including TET2. Our observations also indicated that the frequency of TET2 deletion is increased in patients with an abnormal karyotype (5%). Dove Medical Press 2010-09-17 /pmc/articles/PMC3004566/ /pubmed/21188113 http://dx.doi.org/10.2147/CMR.S12829 Text en © 2010 Tripodi et al, publisher and licensee Dove Medical Press Ltd. This is an Open Access article which permits unrestricted noncommercial use, provided the original work is properly cited. |
spellingShingle | Original Research Tripodi, Joseph Hoffman, Ronald Najfeld, Vesna Weinberg, Rona Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title | Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title_full | Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title_fullStr | Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title_full_unstemmed | Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title_short | Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms |
title_sort | frequency of heterozygous tet2 deletions in myeloproliferative neoplasms |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004566/ https://www.ncbi.nlm.nih.gov/pubmed/21188113 http://dx.doi.org/10.2147/CMR.S12829 |
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