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t(19;22)(q13;q12) T...
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Brandal, Petter
(författare)
t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma
- Artikel/kapitelEngelska2009
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LIBRIS-ID:oai:lup.lub.lu.se:c6def20e-85a3-4bfb-83ef-fe45e60a8d2b
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https://lup.lub.lu.se/record/1520236URI
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https://doi.org/10.1002/gcc.20706DOI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:art swepub-publicationtype
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Ämneskategori:ref swepub-contenttype
Anmärkningar
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Myoepithelial neoplasms of soft tissue have only recently been acknowledged as a separate diagnostic entity. To know based on histological appearance whether these tumors are benign or malignant is often difficult, and their tumorigenic mechanisms remain poorly understood. We report a myoepithelial carcinoma with an aberrant near-diploid karyotype, 43 similar to 47,XX,add(1)(p34)x2,add(3)(q27)x2,del(12)(q22),+add(18)(p11)x2,del(22)(q 11),+r, found in cells cultured from a lung metastasis. The deletion in 22q led us to search by molecular cytogenetic means for possible EWSRI rearrangements, and eventually a novel chimeric gene consisting of the 5'-end of EWSRI (22q12) and the 3'-end of ZNF444 (19q13) was found. How the new fusion gene contributes to tumorigenesis is unknown, but the finding of an EWSRI rearrangement suggests that this, possibly even the EWSRI-ZNF444, is a defining pathogenetic feature of at least a subset of these tumors. (C) 2009 Wiley-Liss, Inc.
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Biuppslag (personer, institutioner, konferenser, titlar ...)
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Panagopoulos, IoannisLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine(Swepub:lu)kgen-ipa
(författare)
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Bjerkehagen, Bodil
(författare)
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Heim, Sverre
(författare)
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Avdelningen för klinisk genetikInstitutionen för laboratoriemedicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Genes, Chromosomes and Cancer: Wiley48:12, s. 1051-10561045-22571098-2264
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