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Corticotroph Aggres...
Corticotroph Aggressive Pituitary Tumors and Carcinomas Frequently Harbor ATRX Mutations
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- Casar Borota, Olivera (author)
- Uppsala University,Uppsala universitet,Klinisk och experimentell patologi,Uppsala University Hospital,Uppsala Univ, Sweden; Uppsala Univ Hosp, Sweden
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- Boldt, H. B. (author)
- Odense University Hospital,University of Southern Denmark,Hospital Foch,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark,Foch Hosp, France
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- Edén Engström, Britt (author)
- Uppsala universitet,Endokrinologi och mineralmetabolism,Uppsala Univ, Sweden; Uppsala Univ Hosp, Sweden
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- Andersen, M. S. (author)
- University of Southern Denmark,Odense University Hospital,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark
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Baussart, B. (author)
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- Bengtsson, Daniel (author)
- Linköpings universitet,Linköping University,Department of Internal Medicine, Visby Hospital, Visby,Avdelningen för kirurgi, ortopedi och onkologi,Medicinska fakulteten,Reg Kalmar Cty, Sweden
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- Berinder, K. (author)
- Karolinska Institute,Karolinska Institutet,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Ekman, Bertil, 1958- (author)
- Linköpings universitet,Linköping University,Linköping University Hospital,Medicinska fakulteten,Avdelningen för diagnostik och specialistmedicin,Region Östergötland, Endokrinmedicinska kliniken
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- Feldt-Rasmussen, U. (author)
- Copenhagen University Hospital,University of Copenhagen,Rigshosp, Denmark; Univ Copenhagen, Denmark
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- Hoybye, C. (author)
- Karolinska Institute,Karolinska Institutet,Karolinska University Hospital,Karolinska Inst, Sweden; Karolinska Univ Hosp, Sweden
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- Jorgensen, J. O. L. (author)
- Aarhus University Hospital,Aarhus Univ Hosp, Denmark
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- Kolnes, A. J. (author)
- University of Oslo,Oslo university hospital,Oslo Univ Hosp, Norway; Univ Oslo, Norway
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- Korbonits, M. (author)
- Queen Mary University,William Harvey Res Inst, England; Queen Mary Univ London, England
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- Rasmussen, A. K. (author)
- Copenhagen University Hospital,Copenhagen Univ Hosp, Denmark
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- Lindsay, J. R. (author)
- Belfast City Hospital,Royal Victoria Hospital, Belfast,Belfast Hlth & Social Care Trust BHSCT, North Ireland; Belfast Hlth & Social Care Trust, North Ireland
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- Burman, Pia (author)
- Lund University,Lunds universitet,Translationell muskelforskning,Forskargrupper vid Lunds universitet,Translational Muscle Research,Lund University Research Groups,Skåne University Hospital,Lund Univ, Sweden
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- Maiter, D. (author)
- Saint-Luc University Hospital,UCL Clin Univ St Luc, Belgium
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- Manojlovic-Gacic, E. (author)
- Belgrade University School of Medicine,Univ Belgrade, Serbia
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- Pahnke, J. (author)
- British Columbia Children's Hospital,University of Oslo,University of Latvia,Univ Oslo UiO, Norway; Oslo Univ Hosp OUS, Norway; Univ Lubeck, Germany; Univ Latvia, Latvia
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- Poliani, P. L. (author)
- Univ Brescia, Italy
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- Popovic, V. (author)
- University of Belgrade,Univ Belgrade, Serbia
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- Ragnarsson, Oskar, 1971 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition,Sahlgrenska University Hospital,Sahlgrenska Academy,Univ Gothenburg, Sweden; Sahlgrens Univ Hosp, Sweden
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- Schalin-Jantti, C. (author)
- Helsinki University Central Hospital,Helsinki Univ Hosp, Finland; Univ Helsinki, Finland
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- Scheie, D. (author)
- Copenhagen University Hospital,Copenhagen Univ Hosp, Denmark
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- Toth, M. (author)
- Semmelweis University,Semmelweis Univ, Hungary
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- Villa, C. (author)
- Hospital Foch,University Hospitals Leuven,Institut Cochin,Foch Hosp, France; Inst Cochin, France; Univ Paris, France; Dept Endocrinol, Belgium
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- Wirenfeldt, M. (author)
- University of Southern Denmark,Odense University Hospital,Odense Univ Hosp, Denmark; Univ Southern Denmark, Denmark
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- Kunicki, J. (author)
- The Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology,Maria Sklodowska Curie Natl Res Inst Oncol, Poland
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Burman, P. (author)
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- Engström, Brittédén (author)
- Uppsala University,Uppsala University Hospital
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- Loughrey, Paul Benjamin (author)
- Belfast Hlth & Social Care Trust, North Ireland; Queens Univ, North Ireland
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(creator_code:org_t)
- 2020-10-27
- 2021
- English.
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In: Journal of Clinical Endocrinology & Metabolism. - : The Endocrine Society. - 0021-972X .- 1945-7197. ; 106:4, s. 1183-1194
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Endokrinologi och diabetes (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Endocrinology and Diabetes (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Keyword
- ATRX (alpha thalassemia/mental retardation syndrome X-linked)
- aggressive PitNETs
- pituitary carcinoma
- pituitary adenoma
- Cushing's
- disease
- european-society
- adenomas
- expression
- daxx
- classification
- amplification
- telomeres
- pathway
- genes
- Endocrinology & Metabolism
- ATRX (alpha thalassemia/mental retardation syndrome X-linked)
- Patologi
- Cushing's disease
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Casar Borota, Ol ...
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Boldt, H. B.
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Edén Engström, B ...
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Andersen, M. S.
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Baussart, B.
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Bengtsson, Danie ...
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show more...
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Berinder, K.
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Ekman, Bertil, 1 ...
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Feldt-Rasmussen, ...
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Hoybye, C.
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Jorgensen, J. O. ...
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Kolnes, A. J.
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Korbonits, M.
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Rasmussen, A. K.
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Lindsay, J. R.
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Burman, Pia
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Maiter, D.
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Manojlovic-Gacic ...
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Pahnke, J.
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Poliani, P. L.
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Popovic, V.
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Ragnarsson, Oska ...
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Schalin-Jantti, ...
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Scheie, D.
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Toth, M.
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Villa, C.
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Wirenfeldt, M.
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Kunicki, J.
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Burman, P.
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Engström, Britté ...
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Loughrey, Paul B ...
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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- Articles in the publication
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Journal of Clini ...
- By the university
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University of Gothenburg
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Uppsala University
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Karolinska Institutet
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Lund University
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Linköping University