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Comprehensive Genom...
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma
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- Ofverholm, Ingegerd (författare)
- Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.
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- Wallander, Karin (författare)
- Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.;Karolinska Inst, S-17164 Stockholm, Sweden.
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- Haglund, Cecilia (författare)
- Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden.
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- Chellappa, Venkatesh (författare)
- Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
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- Wejde, Johan (författare)
- Karolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden.
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- Gellerbring, Anna (författare)
- Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden.
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- Wirta, Valtteri (författare)
- Karolinska Institutet,KTH,Genteknologi,Science for Life Laboratory, SciLifeLab,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Royal Inst Technol, Sch Chem Biotechnol & Hlth, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.
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- Renevey, Annick (författare)
- Karolinska Institutet,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden.
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- Caceres, Eva (författare)
- Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden.
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- Tsagkozis, Panagiotis (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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- Mayrhofer, Markus, 1981- (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Molekylär evolution,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.;Uppsala Univ, Dept Cell & Mol Biol, Sci Life Lab, Natl Bioinformat Infrastructure Sweden, Uppsala, Sweden.,National Bioinformatics Infrastructure Sweden
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- Papakonstantinou, Andri (författare)
- Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Breast Canc Endocrine Tumors & Sarcoma, Stockholm, Sweden.
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- Linder-Stragliotto, Christina (författare)
- Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.
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- Branstrom, Robert (författare)
- Karolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Breast Canc Endocrine Tumors & Sarcoma, Stockholm, Sweden.
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- Larsson, Olle (författare)
- Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
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- Lindberg, Johan (författare)
- Karolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden.
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- Lin, Yingbo (författare)
- Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.
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- de Flon, Felix Haglund (författare)
- Karolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden.
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Karolinska Institutet Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. (creator_code:org_t)
- American Association for Cancer Research (AACR), 2024
- 2024
- Engelska.
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Ingår i: Clinical Cancer Research. - : American Association for Cancer Research (AACR). - 1078-0432 .- 1557-3265. ; 30:12, s. 2647-2658
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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https://urn.kb.se/re...
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Abstract
Ämnesord
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- Purpose: Tumor classification is a key component in personalized cancer care. For soft-tissue and bone tumors, this classification is currently based primarily on morphology assessment and IHC staining. However, these standard-of-care methods can pose challenges for pathologists. We therefore assessed how whole-genome and whole-transcriptome sequencing (WGTS) impacted tumor classification and clinical management when interpreted together with histomorphology.Experimental Design: We prospectively evaluated WGTS in routine diagnostics of 200 soft-tissue and bone tumors suspicious for malignancy, including DNA and RNA isolation from the tumor, and DNA isolation from a peripheral blood sample or any non-tumor tissue.Results: On the basis of specific genomic alterations or absence of presumed findings, WGTS resulted in reclassification of 7% (13/197) of the histopathologic diagnoses. Four cases were downgraded from low-grade sarcomas to benign lesions, and two cases were reclassified as metastatic malignant melanomas. Fusion genes associated with specific tumor entities were found in 30 samples. For malignant soft-tissue and bone tumors, we identified treatment relevant variants in 15% of cases. Germline pathogenic variants associated with a hereditary cancer syndrome were found in 22 participants (11%).Conclusions: WGTS provides an important dimension of data that aids in the classification of soft-tissue and bone tumors, correcting a significant fraction of clinical diagnoses, and identifies molecular targets relevant for precision medicine. However, genetic findings need to be evaluated in their morphopathologic context, just as germline findings need to be evaluated in the context of patient phenotype and family history.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
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- art (ämneskategori)
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- Av författaren/redakt...
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Ofverholm, Ingeg ...
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Wallander, Karin
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Haglund, Cecilia
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Chellappa, Venka ...
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Wejde, Johan
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Gellerbring, Ann ...
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visa fler...
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Wirta, Valtteri
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Renevey, Annick
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Caceres, Eva
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Tsagkozis, Panag ...
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Mayrhofer, Marku ...
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Papakonstantinou ...
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Linder-Stragliot ...
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Branstrom, Rober ...
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Larsson, Olle
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Lindberg, Johan
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Lin, Yingbo
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de Flon, Felix H ...
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Kungliga Tekniska Högskolan
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Karolinska Institutet
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