Clinical Impact of Genetic Alterations in Pediatric Papillary Thyroid Carcinoma: A Next-Generation Sequencing Study from Argentina
Authors' conclusion
Interestingly, in our PTC cohort, the NGS panel was highly specific to detect molecular alterations. Fusions were more frequent at a younger age and in the ATA-2015 high-recurrence-risk group; however, it was not a determining factor to predict PTC outcome. Finally, detection of pathological germline mutations in genes involved in HTPS was useful for genetic counseling.
Study context
- Population
- Consecutive pediatric patients with papillary thyroid cancer (PTC) at a single center in Argentina, with a DNA-based next-generation sequencing (NGS) panel; all treated with total thyroidectomy and radioiodine
- Participants
- 63 patients
- Exposure
- Low risk vs Intermediate risk vs High risk
- Low riskn = 10
- Intermediate riskn = 13
- High riskn = 40
- Outcome
- Pathogenic somatic variants on NGS panel
Methodological detailssingle-centre, consecutive patients
- Single-centre
- Consecutive patients
Main finding
As reported in the abstract
Pathogenic somatic variant detected
70%
44/63
Most frequent alteration: RET fusions
20%
Observational data: associations, not effects.
Further findings
Fusions by age
- Fusions more frequent in younger patients (median age 11.45 vs. 13.7 years)
- P = 0.048
Fusions by histology and recurrence risk
- Fusions more frequent in diffuse sclerosing subtype
- P = 0.01
- Fusions more frequent in high-recurrence risk group
- P < 0.014
Persistent disease (PD) by risk group · last follow-up
- Risk of PD higher in high-risk group (OR)
- 9.2
Molecular findings by treatment response · last follow-up
- PD (n=19): fusions 12 (64%), point variants 7 (36%); statistically significant
- P < 0.01
- Excellent response (n=25): fusions 12 (48%), point variants 13 (52%); no statistically significant difference
Pathological germline mutations in hereditary tumor predisposition syndrome (HTPS) genes
- Germline mutations
- 5/63 (8%)
- DICER1
- 2
- PTEN
- 1
- MSH6
- 2
Original publication
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