Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer
Authors' conclusion
In DSPTC, fusion genes are common, BRAFV600E is rare, and other usual point mutations are absent. Pathogenic and likely pathogenic variants in POLE, NF1, CDKN2A, BRCA2, TP53, SETD2, ATM, FLT3, and ROS1 occur in about two-thirds of DTPTC.
Study context
- Population
- Patients with diffuse sclerosing PTC (diffuse sclerosing papillary thyroid cancer (DSPTC)); 15 females, 7 males, median age 18 years (range 8–81)19 tested by next-generation sequencing (NGS)
- Participants
- 22 patients
- Outcome
- Genetic alterations in DSPTC (NGS, n=19)
Methodological detailscase series, Sanger sequencing, NGS gene panel
- Case series
- Sanger sequencing
- NGS gene panel
Main finding
As reported in the abstract
- Definitely pathogenic alterations
- 10 patients (52.6%)
- BRAFV600E
- 2/19 (10.5%)
- CCDC6-RET (RET/PTC1)
- 5/19 (26.3%)
- NCOA4-RET (RET/PTC3)
- 1/19 (5.3%)
- STRN-ALK fusion
- 1/19 (5.3%)
- TP53 mutations
- 2/19 (10.6%)
- Probably pathogenic alterations
- 13/19 tumors (68.4%)
- POLE variants
- 31.6%
- CDKN2A variants
- 26%
- NF1 variants
- 21%
- BRCA2 variants
- 15.8%
- SETD2 variants
- 5.3%
- ATM variants
- 5.3%
- FLT3 variants
- 5.3%
- ROS1 variants
- 5.3%
- No alterations on gene panel
- 1 patient
Observational data: associations, not effects.
Further findings
Tumors tested by Sanger sequencing only
- Negative for BRAFV600E, HRAS, KRAS, NRAS, TERT promoter, PTEN and PIK3CA mutations
- 3 tumors
Original publication
Molecular Genetics of Diffuse Sclerosing Papillary Thyroid Cancer. J Clin Endocrinol Metab. Published 30 March 2023. doi:10.
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