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Sökning: WFRF:(Villa Pia M) > (2021) > Corticotroph Aggres...

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FältnamnIndikatorerMetadata
00010173naa a2201129 4500
001oai:gup.ub.gu.se/305300
003SwePub
008240528s2021 | |||||||||||000 ||eng|
009oai:DiVA.org:uu-431268
009oai:prod.swepub.kib.ki.se:146647548
009oai:lup.lub.lu.se:4ee7be79-2f34-4156-a052-86e8d69cf9f1
009oai:DiVA.org:liu-176196
0247 a https://gup.ub.gu.se/publication/3053002 URI
0247 a https://doi.org/10.1210/clinem/dgaa7492 DOI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-4312682 URI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1466475482 URI
0247 a https://lup.lub.lu.se/record/4ee7be79-2f34-4156-a052-86e8d69cf9f12 URI
0247 a https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-1761962 URI
040 a (SwePub)gud (SwePub)uud (SwePub)kid (SwePub)lud (SwePub)liu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Casar Borota, Oliverau Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Uppsala University Hospital,Uppsala Univ, Sweden; Uppsala Univ Hosp, Sweden4 aut0 (Swepub:uu)olica753
2451 0a Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
264 c 2020-10-27
264 1b The Endocrine Society,c 2021
500 a Funding Agencies|Swedish Cancer SocietySwedish Cancer Society [190157 Fk]; Swedish government; Swedish county councils (ALF); Region of Southern Denmark; Helsinki University Hospital Research Funds [TYH2018223, TYH20191254]; Skane University Hospital, Region of Skane, Sweden
520 a Context: Aggressive pituitary tumors (APTs) are characterized by unusually rapid growth and lack of response to standard treatment. About 1% to 2% develop metastases being classified as pituitary carcinomas (PCs). For unknown reasons, the corticotroph tumors are overrepresented among APTs and PCs. Mutations in the alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene, regulating chromatin remodeling and telomere maintenance, have been implicated in the development of several cancer types, including neuroendocrine tumors. Objective: To study ATRX protein expression and mutational status of the ATRX gene in APTs and PCs. Design: We investigated ATRX protein expression by using immunohistochemistry in 30 APTs and 18 PCs, mostly of Pit-1 and T-Pit cell lineage. In tumors lacking ATRX immunolabeling, mutational status of the ATRX gene was explored. Results: Nine of the 48 tumors (19%) demonstrated lack of ATRX immunolabelling with a higher proportion in patients with PCs (5/18; 28%) than in those with APTs (4/30;13%). Lack of ATRX was most common in the corticotroph tumors, 7/22 (32%), versus tumors of the Pit-1 lineage, 2/24 (8%). Loss-of-function ATRX mutations were found in all 9 ATRX immunonegative cases: nonsense mutations (n = 4), frameshift deletions (n = 4), and large deletions affecting 22-28 of the 36 exons (n = 3). More than 1 ATRX gene defect was identified in 2 PCs. Conclusion: ATRX mutations occur in a subset of APTs and are more common in corticotroph tumors. The findings provide a rationale for performing ATRX immunohistochemistry to identify patients at risk of developing aggressive and potentially metastatic pituitary tumors.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Klinisk laboratoriemedicin0 (SwePub)302232 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Clinical Laboratory Medicine0 (SwePub)302232 hsv//eng
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a ATRX (alpha thalassemia/mental retardation syndrome X-linked)
653 a aggressive PitNETs
653 a pituitary carcinoma
653 a pituitary adenoma
653 a Cushing's
653 a disease
653 a european-society
653 a adenomas
653 a expression
653 a daxx
653 a classification
653 a amplification
653 a telomeres
653 a pathway
653 a genes
653 a Endocrinology & Metabolism
653 a ATRX (alpha thalassemia/mental retardation syndrome X-linked)
653 a Patologi
653 a Cushing's disease
7001 a Boldt, H. B.u University of Southern Denmark,Odense University Hospital,Hospital Foch,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark,Foch Hosp, France4 aut
7001 a Edén Engström, Brittu Uppsala universitet,Endokrinologi och mineralmetabolism,Uppsala Univ, Sweden; Uppsala Univ Hosp, Sweden4 aut0 (Swepub:uu)brittee
7001 a Andersen, M. S.u University of Southern Denmark,Odense University Hospital,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark4 aut
7001 a Baussart, B.4 aut
7001 a Bengtsson, Danielu Linköpings universitet,Linköping University,Department of Internal Medicine, Visby Hospital, Visby,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Reg Kalmar Cty, Sweden4 aut0 (Swepub:liu)danbe79
7001 a Berinder, K.u Karolinska Institute,Karolinska Institutet,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut
7001 a Ekman, Bertil,d 1958-u Linköpings universitet,Linköping University,Linköping University Hospital,Medicinska fakulteten,Avdelningen för diagnostik och specialistmedicin,Region Östergötland, Endokrinmedicinska kliniken4 aut0 (Swepub:liu)berek83
7001 a Feldt-Rasmussen, U.u Copenhagen University Hospital,University of Copenhagen,Rigshosp, Denmark; Univ Copenhagen, Denmark4 aut
7001 a Hoybye, C.u Karolinska Institute,Karolinska Institutet,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden4 aut
7001 a Jorgensen, J. O. L.u Aarhus University Hospital,Aarhus Univ Hosp, Denmark4 aut
7001 a Kolnes, A. J.u Oslo university hospital,University of Oslo,Oslo Univ Hosp, Norway; Univ Oslo, Norway4 aut
7001 a Korbonits, M.u Queen Mary University,William Harvey Res Inst, England; Queen Mary Univ London, England4 aut
7001 a Rasmussen, A. K.u Copenhagen University Hospital,Copenhagen Univ Hosp, Denmark4 aut
7001 a Lindsay, J. R.u Royal Victoria Hospital, Belfast,Belfast City Hospital,Belfast Hlth & Social Care Trust BHSCT, North Ireland; Belfast Hlth & Social Care Trust, North Ireland4 aut
7001 a Burman, Piau Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden4 aut0 (Swepub:lu)med-bap
7001 a Maiter, D.u Saint-Luc University Hospital,UCL Clin Univ St Luc, Belgium4 aut
7001 a Manojlovic-Gacic, E.u Belgrade University School of Medicine,Univ Belgrade, Serbia4 aut
7001 a Pahnke, J.u University of Latvia,British Columbia Children's Hospital,University of Oslo,Univ Oslo UiO, Norway; Oslo Univ Hosp OUS, Norway; Univ Lubeck, Germany; Univ Latvia, Latvia4 aut
7001 a Poliani, P. L.u Univ Brescia, Italy4 aut
7001 a Popovic, V.u University of Belgrade,Univ Belgrade, Serbia4 aut
7001 a Ragnarsson, Oskar,d 1971u Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Sahlgrenska Academy,Sahlgrenska University Hospital,Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden4 aut0 (Swepub:gu)xragos
7001 a Schalin-Jantti, C.u Helsinki University Central Hospital,Helsinki Univ Hosp, Finland; Univ Helsinki, Finland4 aut
7001 a Scheie, D.u Copenhagen University Hospital,Copenhagen Univ Hosp, Denmark4 aut
7001 a Toth, M.u Semmelweis University,Semmelweis Univ, Hungary4 aut
7001 a Villa, C.u University Hospitals Leuven,Institut Cochin,Hospital Foch,Foch Hosp, France; Inst Cochin, France; Univ Paris, France; Dept Endocrinol, Belgium4 aut
7001 a Wirenfeldt, M.u University of Southern Denmark,Odense University Hospital,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark4 aut
7001 a Kunicki, J.u The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology,Maria Sklodowska Curie Natl Res Inst Oncol, Poland4 aut
7001 a Burman, P.4 aut
7001 a Engström, Brittédénu Uppsala University,Uppsala University Hospital4 aut
7001 a Loughrey, Paul Benjaminu Belfast Hlth & Social Care Trust, North Ireland; Queens Univ, North Ireland4 aut
7102 a Uppsala universitetb Klinisk och experimentell patologi4 org
7730 t Journal of Clinical Endocrinology & Metabolismd : The Endocrine Societyg 106:4, s. 1183-1194q 106:4<1183-1194x 0021-972Xx 1945-7197
8564 u https://academic.oup.com/jcem/article-pdf/106/4/e1183/41848357/dgaa749.pdf
8564 u https://doi.org/10.1210/clinem/dgaa749y Fulltext
8564 u https://uu.diva-portal.org/smash/get/diva2:1517351/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 u http://dx.doi.org/10.1210/clinem/dgaa749x freey FULLTEXT
8564 u https://liu.diva-portal.org/smash/get/diva2:1562988/FULLTEXT01.pdfx primaryx Raw objecty fulltext:print
8564 8u https://gup.ub.gu.se/publication/305300
8564 8u https://doi.org/10.1210/clinem/dgaa749
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-431268
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:146647548
8564 8u https://lup.lub.lu.se/record/4ee7be79-2f34-4156-a052-86e8d69cf9f1
8564 8u https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-176196

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