Q (haiku): What is the median age at diagnosis for osteosarcoma patients in the TARGET study? ▶ read_guide { "uri": "cbioportal://clinical-data-guide" } ▶ list_studies { "search": "TARGET osteosarcoma" } ◀ result # Clinical Data Query Guide ## Overview Clinical data in cBioPortal is stored at both patient and sample levels. Understanding the distinction is crucial for accurate analysis. ## Data Organization ### Patient-Level vs Sample-Level Data - **Patient-level**: Demographics, overall survival, disease stage (stored once per patient) - **Sample-level**: Sample type, sequencing platform, purity (can have multiple per patient) ### Key Tables - `clinical_patient`: Patient-level clinical attributes - `clinical_sample`: Sample-level clinical attributes - `clinical_data_derived`: Pre-joined view combining both levels - `clinical_attribute_meta`: Metadata about available clinical attributes ## Recommended Approach: Use clinical_data_derived The `clinical_data_derived` table is pre-joined and optimized for most queries: ```sql -- Get clinical data for specific attributes SELECT sample_unique_id, patient_unique_id, attribute_name, attribute_value FROM clinical_data_derived WHERE cancer_study_identifier = 'your_study_id' AND attribute_name IN ('CANCER_TYPE', 'SAMPLE_TYPE', 'TMB_NONSYNONYMOUS'); ``` ## Clinical Attribute Discovery ### Use clinical_attribute_meta for Discovering Available Attributes **Always start here** to see what clinical attributes are available for a specific study: ```sql -- Discover available clinical attributes for a study SELECT attr_id, description, patient_attribute, cancer_study_id FROM clinical_attribute_meta WHERE cancer_study_id = ( SELECT cancer_study_id FROM cancer_study WHERE cancer_study_identifier = 'your_study_id' ) ORDER BY patient_attribute, attr_id; ``` **Key Fields:** - **attr_id**: matches attr_id in clinical_sample/clinical_patient tables - **description**: human-readable description of the attribute - **patient_attribute**: true = patient attribute, false = sample attribute - **cancer_study_id**: links to cancer_study table (filter by study) ## Attribute Semantics and Matching ### Case-Insensitive Matching for Attribute Values Clinical values are free text across studies and may differ only by case. For example, a controlled-looking value such as germline mutation status may appear as `GERMLINE`, `Germline`, or another case variant. When filtering `clinical_data_derived.attribute_value`, use case-insensitive matching unless you have already profiled the exact values in the target study: ```sql -- Correct: case-insensitive clinical value filter SELECT DISTINCT sample_unique_id, patient_unique_id FROM clinical_data_derived WHERE cancer_study_identifier = 'your_study_id' AND attribute_name = 'MUTATION_STATUS' AND upper(attribute_value) = 'GERMLINE'; ``` Do not write `attribute_value = 'GERMLINE'` without first checking all distinct values for that attribute in the study. ### Query the Requested Attribute, Not a Proxy Do not infer one clinical attribute from a related subtype or marker. Query the actual requested attribute when it … (17073 more chars) ◀ result {"result":[{"cancer_study_identifier":"os_target_gdc","name":"Osteosarcoma (TARGET GDC, 2025)","type_of_cancer_id":"os","sample_count":159,"has_guide":true,"url":"https://www.cbioportal.org/study/summary?id=os_target_gdc"}]} ▶ clickhouse_list_table_columns { "table": "clinical_data_derived" } ▶ get_study_guide { "study_id": "os_target_gdc" } ◀ result {"columns":[{"name":"internal_id","type":"Int32"},{"name":"sample_unique_id","type":"String","comment":"Globally unique sample ID: cancer_study_identifier + \"_\" + sample.stable_id. Empty for patient-level attributes. Use this for sample filtering and joins."},{"name":"patient_unique_id","type":"String","comment":"Globally unique patient ID: cancer_study_identifier + \"_\" + patient.stable_id. Present for both sample and patient-level attributes."},{"name":"attribute_name","type":"LowCardinality(String)","comment":"Clinical attribute name (e.g., SAMPLE_TYPE, CANCER_TYPE, AGE, OS_MONTHS). Use with attribute_value for filtering. AGE may be floored or capped for de-identification (e.g. all children recorded as 18, or everyone 89+ recorded as 89 or 90): before age statistics check for a pile-up at the min/max, and if present compute age from DAYS_TO_BIRTH (-days / 365.25)."},{"name":"attribute_value","type":"String","comment":"Value of the clinical attribute (String). For SAMPLE_TYPE: Primary, Metastasis, Local Recurrence, Unknown. Missing values are empty strings, so use toFloat64OrNull(attribute_value) for numeric comparisons — CAST fails on them."},{"name":"cancer_study_identifier","type":"LowCardinality(String)"},{"name":"type","type":"LowCardinality(String)","comment":"Data level: \"sample\" for sample-level attributes (e.g., SAMPLE_TYPE), \"patient\" for patient-level attributes (e.g., AGE, OS_MONTHS)."}]} ◀ result # Osteosarcoma (TARGET GDC, 2025) **Study ID:** `os_target_gdc` ## Overview Pediatric osteosarcoma study from the TARGET (Therapeutically Applicable Research to Generate Effective Treatments) initiative. Whole exome sequencing data. ## Gene Panel - **WES** (Whole Exome Sequencing): all coding genes profiled - **143 of the 160 samples are profiled for mutations.** Use 143 as the mutation-frequency denominator (`sample_to_gene_panel_derived`, `alteration_type = 'MUTATION_EXTENDED'`), not the study's sample count — e.g. TP53 is mutated in 32/143 = 22.4%. ## Patients vs Samples 383 patients have clinical data, but only 153 of them have a sample (159 samples). Patient-level questions (age, sex, survival) use all patients with a value; genomic questions use the 143 mutation-profiled samples. ## Clinical Attributes - Semantic Guide ### Patient Demographics | Attribute | Description | Notes | |-----------|-------------|-------| | `AGE` | Age at diagnosis, **floored at 18** | Every patient younger than 18 is recorded as 18 (241 of 293). **Don't use it for age statistics** — use `DAYS_TO_BIRTH` | | `DAYS_TO_BIRTH` | Days from birth to diagnosis, negative | Age at diagnosis in years = `-DAYS_TO_BIRTH / 365.25`. 293 patients have a value; 90 are empty | | `SEX` | Patient sex | Male 172, Female 133, 78 empty | | `RACE`, `ETHNICITY` | Race, ethnicity | | ### Disease Characteristics | Attribute | Description | Notes | |-----------|-------------|-------| | `CANCER_TYPE_DETAILED` | Cancer type | Osteosarcoma for every sample | | `PRIMARY_SITE_PATIENT` | Primary site | "Appendicular Skeleton" for every patient with a value — no finer location (femur, tibia) | No histological subtype, tumor necrosis / chemotherapy response, or event-free survival attributes exist in this study. ### Clinical Outcomes | Attribute | Description | Notes | |-----------|-------------|-------| | `OS_MONTHS` | Overall survival in months | Time from diagnosis | | `OS_STATUS` | Overall survival status | 0:LIVING 171, 1:DECEASED 105, 107 empty | ## Age at Diagnosis Compute age from `DAYS_TO_BIRTH`, not `AGE`. A median from `AGE` comes out as 18 because every child is recorded as 18; the real median is about 15 years. ```sql SELECT count() AS patients, round(median(-toFloat64OrNull(attribute_value) / 365.25), 1) AS median_age_years, round(min(-toFloat64OrNull(attribute_value) / 365.25), 1) AS min_age_years, round(max(-toFloat64OrNull(attribute_value) / 365.25), 1) AS max_age_years FROM clinical_data_derived WHERE cancer_study_identifier = 'os_target_gdc' AND attribute_name = 'DAYS_TO_BIRTH' AND toFloat64OrNull(attribute_value) IS NOT NULL; -- 293 patients, median 15.2, range 3.6-87.1 ``` When reporting, say the age comes from `DAYS_TO_BIRTH` and that `AGE` is floored at 18. ## Notes & Caveats - This is a pediatric cancer cohort; age distribution is younger than adult studies - WES coverage means no gene panel filtering needed for frequency calculations - Part … (66 more chars) ▶ clickhouse_run_select_query { "query": " SELECT count() AS patients, round(median(-toFloat64OrNull(attribute_value) / 365.25), 1) AS median_age_years, round(min(-toFloat64OrNull(attribute_value) / 365.25), 1) AS min_age_years, round(max(-toFloat64OrNull(attribute_value) / 365.25), 1) AS max_age_years FROM clinical_data_derived WHERE cancer_study_identifier = 'os_target_gdc' AND attribute_name = 'DAYS_TO_BIRTH' AND toFloat64OrNull(attribute_value) IS NOT NULL ", "max_rows": 10 } ▶ resolve_and_route { "studyIds": [ "os_target_gdc" ] } ◀ result {"rows":[{"patients":293,"median_age_years":15.2,"min_age_years":3.6,"max_age_years":87.1}]} ◀ result {"success":true,"message":"Found 1 study. Use the metadata to call the appropriate navigation tool(s).","data":{"totalCount":1,"studiesWithMetadata":[{"studyId":"os_target_gdc","name":"Osteosarcoma (TARGET GDC, 2025)","sampleCount":159,"studyViewUrl":"https://www.cbioportal.org/study?id=os_target_gdc","metadata":{"clinicalAttributeIds":["AGE","CANCER_TYPE","CANCER_TYPE_DETAILED","DAYS_TO_BIRTH","DAYS_TO_DEATH","DISEASE_TYPE","ETHNICITY","MUTATION_COUNT","ONCOTREE_CODE","OS_MONTHS","OS_STATUS","PRIMARY_DIAGNOSIS","PRIMARY_SITE_PATIENT","PROJECT_ID","RACE","SAMPLE_COUNT","SEX","SPECIMEN_TYPE","TMB_NONSYNONYMOUS","VITAL_STATUS"],"molecularProfileIds":["os_target_gdc_cna","os_target_gdc_mrna_seq_fpkm","os_target_gdc_mrna_seq_fpkm_Zscores","os_target_gdc_mrna_seq_read_counts_Zscores","os_target_gdc_mrna_seq_tpm","os_target_gdc_mrna_seq_tpm_Zscores","os_target_gdc_mutations","os_target_gdc_rna_seq_mrna"],"heatmapProfileIds":["os_target_gdc_mrna_seq_fpkm_Zscores","os_target_gdc_mrna_seq_read_counts_Zscores","os_target_gdc_mrna_seq_tpm_Zscores"],"availableComparisonTabs":["overlap","clinical","survival","alterations","mutations","mrna"]}}]}} ═ answer (success) ## Median Age at Diagnosis: 15.2 Years In the **Osteosarcoma (TARGET GDC, 2025)** study, the median age at diagnosis is **15.2 years** (range: 3.6–87.1 years) based on 293 patients with available clinical data. **Why DAYS_TO_BIRTH, not AGE:** This study floors the `AGE` attribute at 18 for de-identification (241 of 293 patients younger than 18 are recorded as exactly 18). The precise ages come from the `DAYS_TO_BIRTH` field (days from birth to diagnosis; age in years = −DAYS_TO_BIRTH ÷ 365.25). **Study context:** This is a pediatric cohort (median ~15 years is typical for osteosarcoma), with 159 samples across 383 patients total, of which 143 are profiled for mutations. [View the study in cBioPortal](https://www.cbioportal.org/study?id=os_target_gdc)