Source:http://linkedlifedata.com/resource/pubmed/id/16166283
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
18
|
| pubmed:dateCreated |
2005-9-16
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| pubmed:abstractText |
Multicolor fluorescent in situ hybridization (FISH) was used to identify acquired chromosomal aberrations in 12 patients with mycosis fungoides or Sézary syndrome, the most common forms of primary cutaneous T-cell lymphoma (CTCL). The most frequently affected chromosome was 12, which showed clonal deletions or translocations with a break point in 12q21 or 12q22 in five of seven consecutive Sézary syndrome patients and a clonal monosomy in the sixth patient. The break point of a balanced translocation t(12;18)(q21;q21.2), mapped in the minimal common region of two deletions, fine mapped to 12q2. By locus-specific FISH, the translocation disrupted one gene, NAV3 (POMFIL1), a human homologue of unc-53 in Caenorhabditis elegans. A missense mutation in the remaining NAV3 allele was found in one of six cases with a deletion or translocation. With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sézary syndrome. Preliminary functional studies with lentiviral small interfering RNA-based NAV3 silencing in Jurkat cells and in primary lymphocytes showed enhanced interleukin 2 expression (but not CD25 expression). Thus, NAV3 may contribute to the growth, differentiation, and apoptosis of CTCL cells as well as to the skewing from Th1-type to Th2-type phenotype during disease progression. NAV3, a novel putative haploinsufficient tumor suppressor gene, is disrupted in most cases of the commonest types of CTCL and may thus provide a new diagnostic tool.
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| pubmed:commentsCorrections | |
| pubmed:language |
eng
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Sep
|
| pubmed:issn |
0008-5472
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| pubmed:author |
pubmed-author:BlazevicVesnaV,
pubmed-author:HahtolaSonjaS,
pubmed-author:KähkönenMarkettaM,
pubmed-author:KarenkoLeenaL,
pubmed-author:KarhuRitvaR,
pubmed-author:KrebsIngeI,
pubmed-author:KytöläSoiliS,
pubmed-author:NedoszytkoBoguslawB,
pubmed-author:NevalaHannaH,
pubmed-author:NupponenNinaN,
pubmed-author:PäivinenSuviS,
pubmed-author:PesonenMariaM,
pubmed-author:PetersonPärtP,
pubmed-author:PoustkaAnnemarieA,
pubmed-author:RankiAnnamariA,
pubmed-author:RoszkiewiczJadwigaJ,
pubmed-author:SakselaKalleK,
pubmed-author:SihtoHarriH,
pubmed-author:SyrjäSannaS,
pubmed-author:VisakorpiTapioT,
pubmed-author:ZhouYingY
|
| pubmed:issnType |
Print
|
| pubmed:day |
15
|
| pubmed:volume |
65
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
8101-10
|
| pubmed:dateRevised |
2008-10-14
|
| pubmed:meshHeading |
pubmed-meshheading:16166283-Alleles,
pubmed-meshheading:16166283-Chromosome Aberrations,
pubmed-meshheading:16166283-Chromosome Breakage,
pubmed-meshheading:16166283-Chromosome Mapping,
pubmed-meshheading:16166283-Chromosomes, Human, Pair 12,
pubmed-meshheading:16166283-Gene Deletion,
pubmed-meshheading:16166283-Gene Silencing,
pubmed-meshheading:16166283-Humans,
pubmed-meshheading:16166283-In Situ Hybridization, Fluorescence,
pubmed-meshheading:16166283-Interleukin-2,
pubmed-meshheading:16166283-Interphase,
pubmed-meshheading:16166283-Lymphoma, T-Cell, Cutaneous,
pubmed-meshheading:16166283-Membrane Proteins,
pubmed-meshheading:16166283-Nerve Tissue Proteins,
pubmed-meshheading:16166283-Sezary Syndrome,
pubmed-meshheading:16166283-Skin Neoplasms,
pubmed-meshheading:16166283-Translocation, Genetic
|
| pubmed:year |
2005
|
| pubmed:articleTitle |
Primary cutaneous T-cell lymphomas show a deletion or translocation affecting NAV3, the human UNC-53 homologue.
|
| pubmed:affiliation |
Department of Dermatology and Venereology, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland. leena.p.karenko@hus.fi
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|