Thyroid Carcinoma / THCA (TCGA)
Overview
THCA is the TCGA cohort identifier for thyroid carcinoma (predominantly papillary thyroid carcinoma). The closest OncoTree codes are THPA (Papillary Thyroid Cancer) and THYC (Thyroid Cancer, parent node). THCA is characterized by extraordinarily low mutation burden and arm-level aneuploidy, with driver oncogenesis predominantly through kinase fusions (RET, NTRK1/3, BRAF fusions) or point mutations (BRAF V600E, RAS).
Cohorts in the corpus
- TCGA THCA cohort: included as one of 33 cancer types in the pan-cancer fusion landscape study; subset of the PanCancer Atlas (thca_tcga_pan_can_atlas_2018).
Recurrent alterations
- Pan-cancer fusion study (9,624 TCGA samples) found THCA is dramatically enriched for kinase fusions (35.6% of THCA samples; Fisher p < 2.2e-16); 94.0% are 3′-kinase fusions; top recurrent partners are tyrosine kinases RET, BRAF, NTRK1, NTRK3, and ALK; CCDC6–RET was detected in 4.2% of THCA (33 samples flagged druggable); THCA has a median of 0 fusions/sample overall but the kinase-fusion subset is striking PMID:29617662.
- Pan-cancer aneuploidy study found thyroid carcinoma has the lowest aneuploidy score of all 33 TCGA cancer types (26% of THCA samples with any arm event, mean score 0.87), consistent with its known low CNA burden and near-diploid genomes PMID:29622463.
Subtypes
Therapeutic landscape
- RET fusions (CCDC6–RET and others) in THCA are actionable with selective RET inhibitors (selpercatinib, pralsetinib) and were annotated as druggable in 33 THCA samples in the pan-cancer fusion analysis PMID:29617662.
- NTRK1/NTRK3 fusions are actionable with larotrectinib or entrectinib (tumor-agnostic FDA approval).
- ALK fusions are a minor subgroup potentially actionable with ALK inhibitors.
Sources
- PMID:29617662 — Pan-cancer fusion landscape (Gao et al., 2018)
- PMID:29622463 — Pan-cancer aneuploidy landscape (Taylor et al., 2018)
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