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Clinical impact of ...
Clinical impact of recurrently mutated genes on lymphoma diagnostics : state-of-the-art and beyond
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- Rosenquist, Richard (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Experimentell och klinisk onkologi
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- Rosenwald, Andreas (author)
- Univ Wurzburg, Inst Pathol, Wurzburg, Germany.;Comprehens Canc Ctr Mainfranken CCC MF, Wurzburg, Germany.
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- Du, Ming-Qing (author)
- Univ Cambridge, Dept Pathol, Div Mol Histopathol, Cambridge, England.
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- Gaidano, Gianluca (author)
- Univ Piemonte Orientale, Dept Translat Med, Div Haematol, Novara, Italy.
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- Groenen, Patricia (author)
- Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands.
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- Wotherspoon, Andrew (author)
- Royal Marsden Hopsital, Dept Histopathol, Fulham Rd, London, England.
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- Ghia, Paolo (author)
- Univ Vita Salute San Raffaele, Div Expt Oncol, Milan, Italy.;Univ Vita Salute San Raffaele, Dept Oncohematol, Milan, Italy.;IRCCS Inst Sci San Raffaele, Milan, Italy.
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- Gaulard, Philippe (author)
- Univ Paris Est, Grp Hosp Henri Mondor Albert Chenevier, AP HP, Dept Pathol,Creteil INSERM,U955, Creteil, France.
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- Campo, Elias (author)
- Univ Barcelona, Hosp Clin, Dept Pathol, Hemathopatol Sect, Barcelona, Spain.;Univ Barcelona, IDIBAPS, Barcelona, Spain.
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- Stamatopoulos, Kostas (author)
- CERTH, Inst Appl Biosci, Thessaloniki, Greece.
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(creator_code:org_t)
- 2016-08-31
- 2016
- English.
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In: Haematologica. - : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 101:9, s. 1002-1009
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Abstract
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- Similar to the inherent clinical heterogeneity of most, if not all, lymphoma entities, the genetic landscape of these tumors is markedly complex in the majority of cases, with a rapidly growing list of recurrently mutated genes discovered in recent years by next-generation sequencing technology. Whilst a few genes have been implied to have diagnostic, prognostic and even predictive impact, most gene mutations still require rigorous validation in larger, preferably prospective patient series, to scrutinize their potential role in lymphoma diagnostics and patient management. In selected entities, a predominantly mutated gene is identified in almost all cases (e.g. Waldenstrom's macroglobulinemia/lymphoplasmacytic lymphoma and hairy-cell leukemia), while for the vast majority of lymphomas a quite diverse mutation pattern is observed, with a limited number of frequently mutated genes followed by a seemingly endless tail of genes with mutations at a low frequency. Herein, the European Expert Group on NGS-based Diagnostics in Lymphomas (EGNL) summarizes the current status of this ever-evolving field, and, based on the present evidence level, segregates mutations into the following categories: i) immediate impact on treatment decisions, ii) diagnostic impact, iii) prognostic impact, iv) potential clinical impact in the near future, or v) should only be considered for research purposes. In the coming years, coordinated efforts aiming to apply targeted next-generation sequencing in large patient series will be needed in order to elucidate if a particular gene mutation will have an immediate impact on the lymphoma classification, and ultimately aid clinical decision making.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
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Rosenquist, Rich ...
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Rosenwald, Andre ...
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Du, Ming-Qing
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Gaidano, Gianluc ...
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Groenen, Patrici ...
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Wotherspoon, And ...
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Ghia, Paolo
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Gaulard, Philipp ...
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Campo, Elias
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Stamatopoulos, K ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
- Articles in the publication
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Haematologica
- By the university
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Uppsala University