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  • Ofverholm, IngegerdKarolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. (författare)

Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma

  • Artikel/kapitelEngelska2024

Förlag, utgivningsår, omfång ...

  • American Association for Cancer Research (AACR),2024
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:kth-349748
  • https://urn.kb.se/resolve?urn=urn:nbn:se:kth:diva-349748URI
  • https://doi.org/10.1158/1078-0432.CCR-24-0384DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:238573684URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-534293URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • QC 20240703
  • 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 och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Wallander, KarinKarolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden.;Karolinska Inst, S-17164 Stockholm, Sweden. (författare)
  • Haglund, CeciliaKarolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden. (författare)
  • Chellappa, VenkateshKarolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. (författare)
  • Wejde, JohanKarolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden. (författare)
  • Gellerbring, AnnaKarolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden. (författare)
  • Wirta, ValtteriKarolinska 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.(Swepub:kth)u1u59vht (författare)
  • Renevey, AnnickKarolinska Institutet,Karolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden. (författare)
  • Caceres, EvaKarolinska Inst, Dept Microbiol Tumor & Cell Biol, Sci Life Lab, Stockholm, Sweden.;Karolinska Univ Hosp, Genom Med Ctr Karolinska, Stockholm, Sweden. (författare)
  • Tsagkozis, PanagiotisKarolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. (författare)
  • Mayrhofer, Markus,1981-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(Swepub:uu)marra353 (författare)
  • Papakonstantinou, AndriKarolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Breast Canc Endocrine Tumors & Sarcoma, Stockholm, Sweden. (författare)
  • Linder-Stragliotto, ChristinaKarolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden. (författare)
  • Branstrom, RobertKarolinska Institutet,Karolinska Inst, Dept Mol Med & Surg, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Breast Canc Endocrine Tumors & Sarcoma, Stockholm, Sweden. (författare)
  • Larsson, OlleKarolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden. (författare)
  • Lindberg, JohanKarolinska Institutet,Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. (författare)
  • Lin, YingboKarolinska Inst, Dept Oncol Pathol, Stockholm, Sweden. (författare)
  • de Flon, Felix HaglundKarolinska Institutet,Karolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Pathol & Canc Diagnost, Stockholm, Sweden. (författare)
  • Karolinska InstitutetKarolinska Inst, Dept Oncol Pathol, Stockholm, Sweden.;Karolinska Univ Hosp, Dept Clin Genet, Stockholm, Sweden. (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:Clinical Cancer Research: American Association for Cancer Research (AACR)30:12, s. 2647-26581078-04321557-3265

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