An observational study in Bone and Soft Tissue Tumors, sponsored by Karolinska Institutet. Recruiting at 1 site in Sweden. Per ClinicalTrials.gov, last updated 2026-10-02.
Sponsored by Karolinska Institutet · Observational
The goal of this observational study is to learn whether tumors of bone and soft tissue can be sorted into groups by their genes. Today these tumors are named mainly by how they look under a microscope. There are more than 150 names in use. The same tumor can be given different names by different doctors.
The study includes people of any age with a bone or soft tissue tumor. All of them had tissue sampled at Karolinska University Hospital in Stockholm, Sweden.
The main questions it aims to answer are:
Can tests of a tumor's genes sort these tumors into clearer groups than the names used today? How often does a tumor's gene group differ from the name it was given at diagnosis? Can a computer program tell these groups apart from scanned pictures of the tissue?
Researchers will compare the groups found by the gene tests with the diagnoses given at the time. They will also look at how each group did over the years that followed. This shows which way of sorting tumors better matches what happened to participants.
Participants will not have extra visits, tests, or treatment for this study. The study does not change anyone's care.
Researchers will:
Use tumor tissue that was already taken as part of regular care Read the deoxyribonucleic acid (DNA) and ribonucleic acid (RNA) in the tumor, which carry its genetic instructions Read the chemical marks on the tumor's DNA that switch genes on and off Scan the glass slides of the tissue into digital pictures Collect facts about treatment and health from medical records
Participants who are newly diagnosed will also be asked for a blood sample. Blood shows which gene changes a person was born with and which ones started in the tumor.
If the study finds a gene change that matters for a participant's care, the study team tells the treating doctors through normal hospital routines.
38 studies on the registry are indexed under Soft Tissue Neoplasms; 14 are open to participants now.
This study's planned enrollment of 50,000 is above the median of 113 across 18 observational studies indexed under Soft Tissue Neoplasms.
Browse Soft Tissue Neoplasms studies →Karolinska Institutet is the lead sponsor of 1,148 studies on the registry; 276 are open to participants now.
Counted across the registry records on this site, refreshed daily.
People of any age with a tumor or tumor-like lesion of bone or soft tissue, benign, intermediate or malignant, diagnosed or reviewed at the Department of Clinical Pathology and Cancer Diagnostics, Karolinska University Hospital, Stockholm, Sweden. The retrospective cohort is identified from the pathology archive by a predefined search based on the Systematized Nomenclature of Medicine (SNOMED) covering bone and soft tissue tumor codes, with an addendum capturing non-mesenchymal tumors that enter the differential diagnosis, such as melanoma, sarcomatoid carcinoma and lymphoma. The prospective cohort comprises people evaluated at the center during the study period. The center is a national referral center for sarcoma, so the population includes both locally diagnosed and referred cases.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
People of any age with a bone or soft tissue tumor sampled or resected at the study center before the start of the study, identified from the pathology archive using a predefined search based on the Systematized Nomenclature of Medicine (SNOMED). Diagnostic glass slides are scanned for the full archival cohort. A nested subset with tissue of sufficient quality also undergoes whole genome sequencing, RNA sequencing and DNA methylation profiling. Clinical and outcome data are taken from pathology reports and medical records. No study procedure is performed on participants. Assigned Interventions: Diagnostic Test: Digital pathology and computational image analysis Genetic: Whole genome and whole transcriptome sequencing (nested subset) Genetic: Genome-wide DNA methylation profiling (nested subset)
People of any age newly diagnosed with, or referred for evaluation of, a bone or soft tissue tumor at the study center during the study period, who consent to the use of their tissue and data. Diagnostic tissue undergoes whole genome and transcriptome sequencing with a matched germline reference sample, DNA methylation profiling and slide digitization. Diagnosis and treatment follow routine practice and are not altered by the study. Assigned Interventions: Diagnostic Test: Digital pathology and computational image analysis Genetic: Whole genome and whole transcriptome sequencing Genetic: Genome-wide DNA methylation profiling
Discordance between molecularly defined class and the original histopathological diagnosis
Proportion of tumors in the molecularly profiled cohort whose class assignment from integrated genomic, transcriptomic and methylation data, made without reference to the diagnostic label, differs from the diagnosis based on the World Health Organization (WHO) classification in the original pathology report. Reported with a 95 percent confidence interval and accompanied by the adjusted Rand index for the full cross-classification. Only assignments above a pre-specified confidence threshold are counted as discordant; low-confidence assignments are reported separately. Discordant cases undergo blinded review by two sarcoma pathologists to separate reclassification from diagnostic error.
Time frame: Through completion of the primary analysis of the molecular cohort, up to [5] years after study start.
Number of stable molecular classes identified
Number of classes recovered by consensus clustering of the integrated data that meet pre-specified stability criteria, reported with the stability metrics used (consensus matrix concordance, proportion of ambiguous clustering, cophenetic correlation) across the tested range of cluster numbers.
Time frame: Through completion of the primary analysis, up to [5] years.
Proportion of tumors in residual diagnostic categories that receive a defined molecular class
Among tumors originally reported as undifferentiated pleomorphic sarcoma, spindle cell sarcoma not otherwise specified, or an equivalent unclassified bone lesion, the proportion assigned above the confidence threshold to a molecular class that has a defined biological identity.
Time frame: Through completion of the primary analysis, up to [5] years.
Accuracy of molecular class prediction from digitized slides
Performance of machine learning models predicting molecular class membership from whole slide images, evaluated in held-out data split at the level of individual participants. Reported as balanced accuracy and macro-averaged area under the receiver operating characteristic curve, with 95 percent confidence intervals, plus per-class sensitivity and specificity.
Time frame: Through completion of model development and evaluation, up to [5] years.
Frequency of clinically actionable somatic alterations
Proportion of tumors carrying at least one somatic alteration classified as clinically actionable according to a pre-specified evidence framework, reported by molecular class and by original World Health Organization (WHO) diagnosis.
Time frame: Through completion of the primary analysis, up to [5] years.
Frequency of pathogenic germline variants in cancer predisposition genes
Proportion of participants with a matched germline sample carrying a pathogenic or likely pathogenic variant in a pre-specified panel of cancer predisposition genes, classified according to current guidelines.
Time frame: Through completion of the primary analysis, up to [5] years.
Overall survival by molecular class
Time from date of diagnosis to death from any cause, with participants alive at last contact censored at that date. Estimated by the Kaplan-Meier method for each molecular class with a sufficient number of participants, and reported with the number of participants per class.
Time frame: From date of diagnosis to death from any cause, assessed up to [30] years.
Prognostic information added by molecular class beyond current diagnosis and grade
Comparison of Cox proportional hazards models for overall survival that include molecular class against models that include the original diagnosis and grade, using the concordance index and likelihood-based comparison, adjusted for age, anatomical site, tumor size and treatment.
Time frame: From date of diagnosis to death from any cause, assessed up to [30] years.
Plan to share: Undecided — Individual participant data will not be shared publicly. The data are whole genome sequences, transcriptomes, methylation profiles and whole slide images derived from clinical material. These are personal data under the European Union General Data Protection Regulation and cannot be de-identified to a standard that permits open release, and the ethics approval (Swedish Ethical Review Authority, Etikprövningsmyndigheten, reference number 2025-06780-01) does not cover open publication. Derived and aggregated data supporting the published results, including class assignments, summary variant tables and model performance data, will be published with the primary reports. Requests for access to pseudonymized individual-level data for scientific purposes will be considered by the principal investigator and the responsible organizations, and may be granted where the request is compatible with the ethics approval and applicable law and a data transfer or processing agreement is in place.
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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