{"id":"W4388407613","doi":"10.1101/mcs.a006286","title":"Synchronous T-lymphoblastic lymphoma and neuroblastoma in a 3-yr-old with novel germline<i>SMARCA4</i>and<i>EZH2</i>variants","year":2023,"lang":"en","type":"article","venue":"Molecular Case Studies","topic":"Neuroblastoma Research and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Garron Family Cancer Centre; Hospital for Sick Children","keywords":"Germline; SMARCA4; Genetic predisposition; Medicine; Lymphoma; Genetic testing; Germline mutation; Cancer; Oncology; Neuroblastoma; Internal medicine; Cancer research; Epigenetics; Biology; Genetics; Disease; Mutation; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003175923,0.0009791226,0.000826299,0.001387754,0.001925551,0.0009009517,0.0007165164,0.002385385,0.001778586],"category_scores_gemma":[0.001538497,0.0006172445,0.0008976143,0.0007012823,0.0008201833,0.001418749,0.00111113,0.002705397,0.0005537524],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001174974,"about_ca_system_score_gemma":0.0006907257,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005385061,"about_ca_topic_score_gemma":0.006704806,"domain_scores_codex":[0.9996406,0.00003163945,0.00003899825,0.0001321889,0.00005705206,0.00009950065],"domain_scores_gemma":[0.999267,0.0001353204,0.0001105,0.00003292543,0.00005445473,0.000399735],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0000654148,0.00006381171,0.02512889,0.0000166638,0.00001231393,0.971178,0.0003072403,0.00007073424,0.00130552,0.0001686221,0.000421682,0.001261092],"study_design_scores_gemma":[0.000009154573,0.0001168201,0.02332681,0.00001739829,0.00001675427,0.9750001,0.0001756209,0.0002418836,0.0002866583,0.0001640265,0.0006321191,0.00001263634],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9872528,0.002011969,0.001295026,0.00328744,0.0002378522,0.00008292706,0.0004382179,0.00009076177,0.00530309],"genre_scores_gemma":[0.9951781,0.0009653965,0.0008940297,0.0009831842,0.0002341807,0.00001752265,0.0002111808,0.00002626804,0.001490177],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005385061,"threshold_uncertainty_score":0.01070744,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01857835872411008,"score_gpt":0.2885200203531741,"score_spread":0.2699416616290641,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}