Endocrine oncology

Clinicopathological Features of CCDC6-RET and NCOA4-RET Fusions in Thyroid Cancer: A Single-Center Retrospective Cohort Study in a Chinese Population

ThyroidPublished Retrospective cohort study

Authors' conclusion

RET fusions are specific to PTC or DHGTC cases among Chinese thyroid cancer cases. CCDC6-RET and NCOA4-RET fusions exhibited distinct clinicopathological features, with NCOA4-RET being more aggressive.

Study context

Population
Chinese thyroid cancer cases, single centre100 primary RET-fusion cases
Participants
2,300 participants
Exposure
CCDC6-RET vs NCOA4-RET fusions
  • CCDC6-RETn = 78reference
  • NCOA4-RETn = 22
Outcome
Predominant RET fusions and their clinicopathological characteristics
Methodological detailssingle-centre, next-generation sequencing on formalin-fixed, paraffin-embedded tissue
  • Single-centre
  • Next-generation sequencing on formalin-fixed, paraffin-embedded tissue

Main finding

As reported in the abstract

RET fusions among 2234 papillary thyroid cancer (PTC) or differentiated high-grade thyroid carcinoma (DHGTC) cases
113 (5.06%)

Observational data: associations, not effects.

Further findings

Histological subtype: classical PTC

Recurrence: NCOA4-RET vs CCDC6-RET · follow-up · not statistically significant

P = 0.559

OutcomeP value
Recurrence: RET fusion vs BRAFV600E mutation · follow-upP = 0.018
Age ≥45 years · more prevalent with NCOA4-RET
P = 0.021
DHGTC cases · more prevalent with NCOA4-RET
P < 0.05
Lymph node metastases · higher with NCOA4-RET
P = 0.032
Hashimoto's thyroiditis · higher with CCDC6-RET
P < 0.001
Thyroglobulin antibody levels · elevated with CCDC6-RET
P = 0.018
Histological subtype: classical PTC — CCDC6-RET in infiltrative follicular PTC
17.9%, 14/78
Histological subtype: classical PTC — NCOA4-RET in solid PTC
27.3%, 6/22
Histological subtype: classical PTC — NCOA4-RET in DHGTC
27.3%, 6/22
  • Recurrence: RET fusion vs BRAFV600E mutation: RET fusion 5.0%
  • Recurrence: RET fusion vs BRAFV600E mutation: BRAFV600E 0.0%

Compound mutations

RET fusions with compound mutations associated with older age (≥45 years) and bilateral thyroid involvement

Original publication

Clinicopathological Features of CCDC6-RET and NCOA4-RET Fusions in Thyroid Cancer: A Single-Center Retrospective Cohort Study in a Chinese Population. Thyroid. Published 30 August 2024. doi:10.1089/thy.2024.0151

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