Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms

Joseph Tripodi1, Ronald Hoffman1, Vesna Najfeld2, Rona Weinberg31The Myeloproliferative Disorders Program, Tisch Cancer Institute, Department of Medicine and 2Department of Medicine and Pathology, Mount Sinai School of Medicine, 3The Myeloproliferative Disorders Program, Cellular Therapy Laboratory,...

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Main Authors: Joseph Tripodi, Ronald Hoffman, Vesna Najfeld, et al
Format: Article
Language:English
Published: Dove Medical Press 2010-09-01
Series:Cancer Management and Research
Online Access:http://www.dovepress.com/frequency-of-heterozygous-tet2-deletions-in-myeloproliferative-neoplas-a5301
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spelling doaj-9ea16d3c3f8b46e2b717d7aa8bcaef152020-11-25T00:48:40ZengDove Medical PressCancer Management and Research1179-13222010-09-012010default219223Frequency of heterozygous TET2 deletions in myeloproliferative neoplasmsJoseph TripodiRonald HoffmanVesna Najfeldet alJoseph Tripodi1, Ronald Hoffman1, Vesna Najfeld2, Rona Weinberg31The Myeloproliferative Disorders Program, Tisch Cancer Institute, Department of Medicine and 2Department of Medicine and Pathology, Mount Sinai School of Medicine, 3The Myeloproliferative Disorders Program, Cellular Therapy Laboratory, The New York Blood Center, New York, NY, USAAbstract: 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%).Keywords: TET2, myeloproliferative neoplasms, fluorescence in situ hybridization, cytogenetics http://www.dovepress.com/frequency-of-heterozygous-tet2-deletions-in-myeloproliferative-neoplas-a5301
collection DOAJ
language English
format Article
sources DOAJ
author Joseph Tripodi
Ronald Hoffman
Vesna Najfeld
et al
spellingShingle Joseph Tripodi
Ronald Hoffman
Vesna Najfeld
et al
Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms
Cancer Management and Research
author_facet Joseph Tripodi
Ronald Hoffman
Vesna Najfeld
et al
author_sort Joseph Tripodi
title Frequency of heterozygous TET2 deletions in myeloproliferative neoplasms
title_short 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_sort frequency of heterozygous tet2 deletions in myeloproliferative neoplasms
publisher Dove Medical Press
series Cancer Management and Research
issn 1179-1322
publishDate 2010-09-01
description Joseph Tripodi1, Ronald Hoffman1, Vesna Najfeld2, Rona Weinberg31The Myeloproliferative Disorders Program, Tisch Cancer Institute, Department of Medicine and 2Department of Medicine and Pathology, Mount Sinai School of Medicine, 3The Myeloproliferative Disorders Program, Cellular Therapy Laboratory, The New York Blood Center, New York, NY, USAAbstract: 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%).Keywords: TET2, myeloproliferative neoplasms, fluorescence in situ hybridization, cytogenetics
url http://www.dovepress.com/frequency-of-heterozygous-tet2-deletions-in-myeloproliferative-neoplas-a5301
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