Molecular and clinical characteristics of 22 patients with diffuse sclerosing papillary thyroid cancer
| No. . | Definitely pathogenic alterations . | Probably pathogenic alterations . | Age . | Sex . | ATA risk stage . | TNM . | TNM stage . | RAI dose (mCi) . | Additional therapies . | Final outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | BRAF: p.V600E | NA | 81 | M | High | T3bN1bM1 | 4b | 0 | XRT | Structurally incomplete |
| 2 | BRAF: p.V600E | SETD2: p.D2097fs | 20 | F | Intermediate | T1N1bM0 | 1 | 163 | No | Excellent |
| 3 | CCDC6-RET | POLE: p.Q303* FLT3: c.2542-3C>T | 26 | F | Intermediate | T2N1bM0 | 1 | 201.65 | No | Indeterminate |
| 4 | CCDC6-RET | NA | 15 | F | High | T3bN1bM1 | 2 | 211 | I-131 × 2 | Biochemically incomplete |
| 5 | CCDC6-RET TP53: p.C275fs | BRCA2: p.T122fs | 14 | F | Intermediate | T3aN1bM0 | 1 | 109.4 | No | Excellent |
| 6 | CCDC6-RET | POLE: c.3275 + 3G>A NF1: p.W696* | 45 | F | Intermediate | T3aN1bM0 | 1 | 163.5 | No | Excellent |
| 7 | CCDC6-RET | POLE: c.3275 + 3G>A | 20 | F | Intermediate | T3aN1bM0 | 1 | 148 | Sx | Indeterminate |
| 8 | STRN-ALK | CDKN2A: p.P75Sfs | 10 | F | Intermediate | T3bN1bM0 | 1 | 105.9 | I-131 × 1 | Excellent |
| 9 | NCOA4-RET | NA | 12 | F | High | T4N1bM1 | 2 | 40.875 | I-131 × 2 | Structurally incomplete |
| 10 | TP53: p.C275fs | BRCA2: p.T122fs POLE: c.3275 + 3G>A CDKN2A: p.P75S | 18 | M | Intermediate | T3aN1bM0 | 1 | 201 | Sx | Structurally incomplete |
| 11 | NA | ATM: c.3577-1G>A POLE: p.E337K POLE: c.3275 + 3G>A NF1: p.W696* | 18 | M | Intermediate | TxNxM1 | 2 | 200 | I-131 × 3 | Unclear |
| 12 | NA | CDKN2A: p.P75S CDKN2A: p.A76V | 13 | M | Intermediate | T3bN1bM1 | 2 | 136.25 | I-131 × 3 | Unclear |
| 13 | NA | ROS1: c.6136-3C>T POLE: p.A465T POLE: p.G330S NF1: p.W696* | 13 | F | High | T3aN1bM1 | 2 | 120 | Sx, I-131 × 2 | Structurally incomplete |
| 14 | NA | NA | 15 | M | High | T3aN1bM1 | 2 | 54.5 | I-131 × 2 | Structurally incomplete |
| 15 | NA | POLE: c.3275 + 3G>A NF1: p.W696* CDKN2A: p.P75Sfs | 50 | M | High | T4N1bM1 | 2 | 218 | I-131, XRT | Died |
| 16 | NA | NA | 9 | F | Intermediate | T3aN1bM0 | 1 | 54.5 | No | Indeterminate |
| 17 | NA | CDKN2A: p.A76V | 28 | F | Intermediate | T3aN1bM0 | 1 | 155.3 | No | Excellent |
| 18 | NA | BRCA2: p.P69fs | 28 | F | Intermediate | T3aN1bM0 | 1 | 151.2 | Sx | Excellent |
| 19 | Negative Sanger sequencing and NGS results | 20 | M | Intermediate | TxN1bM0 | 1 | 63.54 | Sx, I-131 × 2 | Excellent | |
| 20 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 25 | F | Intermediate | T2N1aM0 | 1 | 136 | No | Excellent | |
| 21 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 8 | F | Intermediate | TxNxM0 | 1 | 0 | I-131 × 1 | Excellent | |
| 22 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 21 | F | Intermediate | T2N1bM0 | 1 | 147.15 | No | Excellent | |
| No. . | Definitely pathogenic alterations . | Probably pathogenic alterations . | Age . | Sex . | ATA risk stage . | TNM . | TNM stage . | RAI dose (mCi) . | Additional therapies . | Final outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | BRAF: p.V600E | NA | 81 | M | High | T3bN1bM1 | 4b | 0 | XRT | Structurally incomplete |
| 2 | BRAF: p.V600E | SETD2: p.D2097fs | 20 | F | Intermediate | T1N1bM0 | 1 | 163 | No | Excellent |
| 3 | CCDC6-RET | POLE: p.Q303* FLT3: c.2542-3C>T | 26 | F | Intermediate | T2N1bM0 | 1 | 201.65 | No | Indeterminate |
| 4 | CCDC6-RET | NA | 15 | F | High | T3bN1bM1 | 2 | 211 | I-131 × 2 | Biochemically incomplete |
| 5 | CCDC6-RET TP53: p.C275fs | BRCA2: p.T122fs | 14 | F | Intermediate | T3aN1bM0 | 1 | 109.4 | No | Excellent |
| 6 | CCDC6-RET | POLE: c.3275 + 3G>A NF1: p.W696* | 45 | F | Intermediate | T3aN1bM0 | 1 | 163.5 | No | Excellent |
| 7 | CCDC6-RET | POLE: c.3275 + 3G>A | 20 | F | Intermediate | T3aN1bM0 | 1 | 148 | Sx | Indeterminate |
| 8 | STRN-ALK | CDKN2A: p.P75Sfs | 10 | F | Intermediate | T3bN1bM0 | 1 | 105.9 | I-131 × 1 | Excellent |
| 9 | NCOA4-RET | NA | 12 | F | High | T4N1bM1 | 2 | 40.875 | I-131 × 2 | Structurally incomplete |
| 10 | TP53: p.C275fs | BRCA2: p.T122fs POLE: c.3275 + 3G>A CDKN2A: p.P75S | 18 | M | Intermediate | T3aN1bM0 | 1 | 201 | Sx | Structurally incomplete |
| 11 | NA | ATM: c.3577-1G>A POLE: p.E337K POLE: c.3275 + 3G>A NF1: p.W696* | 18 | M | Intermediate | TxNxM1 | 2 | 200 | I-131 × 3 | Unclear |
| 12 | NA | CDKN2A: p.P75S CDKN2A: p.A76V | 13 | M | Intermediate | T3bN1bM1 | 2 | 136.25 | I-131 × 3 | Unclear |
| 13 | NA | ROS1: c.6136-3C>T POLE: p.A465T POLE: p.G330S NF1: p.W696* | 13 | F | High | T3aN1bM1 | 2 | 120 | Sx, I-131 × 2 | Structurally incomplete |
| 14 | NA | NA | 15 | M | High | T3aN1bM1 | 2 | 54.5 | I-131 × 2 | Structurally incomplete |
| 15 | NA | POLE: c.3275 + 3G>A NF1: p.W696* CDKN2A: p.P75Sfs | 50 | M | High | T4N1bM1 | 2 | 218 | I-131, XRT | Died |
| 16 | NA | NA | 9 | F | Intermediate | T3aN1bM0 | 1 | 54.5 | No | Indeterminate |
| 17 | NA | CDKN2A: p.A76V | 28 | F | Intermediate | T3aN1bM0 | 1 | 155.3 | No | Excellent |
| 18 | NA | BRCA2: p.P69fs | 28 | F | Intermediate | T3aN1bM0 | 1 | 151.2 | Sx | Excellent |
| 19 | Negative Sanger sequencing and NGS results | 20 | M | Intermediate | TxN1bM0 | 1 | 63.54 | Sx, I-131 × 2 | Excellent | |
| 20 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 25 | F | Intermediate | T2N1aM0 | 1 | 136 | No | Excellent | |
| 21 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 8 | F | Intermediate | TxNxM0 | 1 | 0 | I-131 × 1 | Excellent | |
| 22 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 21 | F | Intermediate | T2N1bM0 | 1 | 147.15 | No | Excellent | |
Abbreviations: ATA, American Thyroid Association; NA, not available; NGS, next generation sequencing; RAI, radioactive iodine; Sx, surgery; TNM, Tumor Node Metastasis; XRT, external radiotherapy.
Molecular and clinical characteristics of 22 patients with diffuse sclerosing papillary thyroid cancer
| No. . | Definitely pathogenic alterations . | Probably pathogenic alterations . | Age . | Sex . | ATA risk stage . | TNM . | TNM stage . | RAI dose (mCi) . | Additional therapies . | Final outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | BRAF: p.V600E | NA | 81 | M | High | T3bN1bM1 | 4b | 0 | XRT | Structurally incomplete |
| 2 | BRAF: p.V600E | SETD2: p.D2097fs | 20 | F | Intermediate | T1N1bM0 | 1 | 163 | No | Excellent |
| 3 | CCDC6-RET | POLE: p.Q303* FLT3: c.2542-3C>T | 26 | F | Intermediate | T2N1bM0 | 1 | 201.65 | No | Indeterminate |
| 4 | CCDC6-RET | NA | 15 | F | High | T3bN1bM1 | 2 | 211 | I-131 × 2 | Biochemically incomplete |
| 5 | CCDC6-RET TP53: p.C275fs | BRCA2: p.T122fs | 14 | F | Intermediate | T3aN1bM0 | 1 | 109.4 | No | Excellent |
| 6 | CCDC6-RET | POLE: c.3275 + 3G>A NF1: p.W696* | 45 | F | Intermediate | T3aN1bM0 | 1 | 163.5 | No | Excellent |
| 7 | CCDC6-RET | POLE: c.3275 + 3G>A | 20 | F | Intermediate | T3aN1bM0 | 1 | 148 | Sx | Indeterminate |
| 8 | STRN-ALK | CDKN2A: p.P75Sfs | 10 | F | Intermediate | T3bN1bM0 | 1 | 105.9 | I-131 × 1 | Excellent |
| 9 | NCOA4-RET | NA | 12 | F | High | T4N1bM1 | 2 | 40.875 | I-131 × 2 | Structurally incomplete |
| 10 | TP53: p.C275fs | BRCA2: p.T122fs POLE: c.3275 + 3G>A CDKN2A: p.P75S | 18 | M | Intermediate | T3aN1bM0 | 1 | 201 | Sx | Structurally incomplete |
| 11 | NA | ATM: c.3577-1G>A POLE: p.E337K POLE: c.3275 + 3G>A NF1: p.W696* | 18 | M | Intermediate | TxNxM1 | 2 | 200 | I-131 × 3 | Unclear |
| 12 | NA | CDKN2A: p.P75S CDKN2A: p.A76V | 13 | M | Intermediate | T3bN1bM1 | 2 | 136.25 | I-131 × 3 | Unclear |
| 13 | NA | ROS1: c.6136-3C>T POLE: p.A465T POLE: p.G330S NF1: p.W696* | 13 | F | High | T3aN1bM1 | 2 | 120 | Sx, I-131 × 2 | Structurally incomplete |
| 14 | NA | NA | 15 | M | High | T3aN1bM1 | 2 | 54.5 | I-131 × 2 | Structurally incomplete |
| 15 | NA | POLE: c.3275 + 3G>A NF1: p.W696* CDKN2A: p.P75Sfs | 50 | M | High | T4N1bM1 | 2 | 218 | I-131, XRT | Died |
| 16 | NA | NA | 9 | F | Intermediate | T3aN1bM0 | 1 | 54.5 | No | Indeterminate |
| 17 | NA | CDKN2A: p.A76V | 28 | F | Intermediate | T3aN1bM0 | 1 | 155.3 | No | Excellent |
| 18 | NA | BRCA2: p.P69fs | 28 | F | Intermediate | T3aN1bM0 | 1 | 151.2 | Sx | Excellent |
| 19 | Negative Sanger sequencing and NGS results | 20 | M | Intermediate | TxN1bM0 | 1 | 63.54 | Sx, I-131 × 2 | Excellent | |
| 20 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 25 | F | Intermediate | T2N1aM0 | 1 | 136 | No | Excellent | |
| 21 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 8 | F | Intermediate | TxNxM0 | 1 | 0 | I-131 × 1 | Excellent | |
| 22 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 21 | F | Intermediate | T2N1bM0 | 1 | 147.15 | No | Excellent | |
| No. . | Definitely pathogenic alterations . | Probably pathogenic alterations . | Age . | Sex . | ATA risk stage . | TNM . | TNM stage . | RAI dose (mCi) . | Additional therapies . | Final outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | BRAF: p.V600E | NA | 81 | M | High | T3bN1bM1 | 4b | 0 | XRT | Structurally incomplete |
| 2 | BRAF: p.V600E | SETD2: p.D2097fs | 20 | F | Intermediate | T1N1bM0 | 1 | 163 | No | Excellent |
| 3 | CCDC6-RET | POLE: p.Q303* FLT3: c.2542-3C>T | 26 | F | Intermediate | T2N1bM0 | 1 | 201.65 | No | Indeterminate |
| 4 | CCDC6-RET | NA | 15 | F | High | T3bN1bM1 | 2 | 211 | I-131 × 2 | Biochemically incomplete |
| 5 | CCDC6-RET TP53: p.C275fs | BRCA2: p.T122fs | 14 | F | Intermediate | T3aN1bM0 | 1 | 109.4 | No | Excellent |
| 6 | CCDC6-RET | POLE: c.3275 + 3G>A NF1: p.W696* | 45 | F | Intermediate | T3aN1bM0 | 1 | 163.5 | No | Excellent |
| 7 | CCDC6-RET | POLE: c.3275 + 3G>A | 20 | F | Intermediate | T3aN1bM0 | 1 | 148 | Sx | Indeterminate |
| 8 | STRN-ALK | CDKN2A: p.P75Sfs | 10 | F | Intermediate | T3bN1bM0 | 1 | 105.9 | I-131 × 1 | Excellent |
| 9 | NCOA4-RET | NA | 12 | F | High | T4N1bM1 | 2 | 40.875 | I-131 × 2 | Structurally incomplete |
| 10 | TP53: p.C275fs | BRCA2: p.T122fs POLE: c.3275 + 3G>A CDKN2A: p.P75S | 18 | M | Intermediate | T3aN1bM0 | 1 | 201 | Sx | Structurally incomplete |
| 11 | NA | ATM: c.3577-1G>A POLE: p.E337K POLE: c.3275 + 3G>A NF1: p.W696* | 18 | M | Intermediate | TxNxM1 | 2 | 200 | I-131 × 3 | Unclear |
| 12 | NA | CDKN2A: p.P75S CDKN2A: p.A76V | 13 | M | Intermediate | T3bN1bM1 | 2 | 136.25 | I-131 × 3 | Unclear |
| 13 | NA | ROS1: c.6136-3C>T POLE: p.A465T POLE: p.G330S NF1: p.W696* | 13 | F | High | T3aN1bM1 | 2 | 120 | Sx, I-131 × 2 | Structurally incomplete |
| 14 | NA | NA | 15 | M | High | T3aN1bM1 | 2 | 54.5 | I-131 × 2 | Structurally incomplete |
| 15 | NA | POLE: c.3275 + 3G>A NF1: p.W696* CDKN2A: p.P75Sfs | 50 | M | High | T4N1bM1 | 2 | 218 | I-131, XRT | Died |
| 16 | NA | NA | 9 | F | Intermediate | T3aN1bM0 | 1 | 54.5 | No | Indeterminate |
| 17 | NA | CDKN2A: p.A76V | 28 | F | Intermediate | T3aN1bM0 | 1 | 155.3 | No | Excellent |
| 18 | NA | BRCA2: p.P69fs | 28 | F | Intermediate | T3aN1bM0 | 1 | 151.2 | Sx | Excellent |
| 19 | Negative Sanger sequencing and NGS results | 20 | M | Intermediate | TxN1bM0 | 1 | 63.54 | Sx, I-131 × 2 | Excellent | |
| 20 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 25 | F | Intermediate | T2N1aM0 | 1 | 136 | No | Excellent | |
| 21 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 8 | F | Intermediate | TxNxM0 | 1 | 0 | I-131 × 1 | Excellent | |
| 22 | Negative Sanger sequencing results for BRAFV600E, RAS, TERT promotor, PTEN and PIK3CA | 21 | F | Intermediate | T2N1bM0 | 1 | 147.15 | No | Excellent | |
Abbreviations: ATA, American Thyroid Association; NA, not available; NGS, next generation sequencing; RAI, radioactive iodine; Sx, surgery; TNM, Tumor Node Metastasis; XRT, external radiotherapy.
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