Table 1.
Pathological Diagnoses and DICER1 Mutation Analyses in Family With Multiple DTCs
| Patient | Pathological Diagnoses | Germline DICER1 Mutation (NM_177438.2) | Somatic DICER1 Mutation in Thyroid (NM_177438.2) | Somatic DICER1 Amino Acid Change | Tissue Diagnosis on Block Selected for Sequencing | Mutant Allele Frequency (No. of Reads) | % “Tumor” in Block Sampled (Crude Visual Estimate of Surface Area Comprised by Tumor) |
|---|---|---|---|---|---|---|---|
| Mother | DTC, SLCT | c.5441C>T | No pathological sample | NA | NA | NA | NA |
| Sister 1 (patient A) | DTC, MNG, SLCT, cystic nephroma | c.5441C>T | c.5126A>G | p.Asp1709Gly | Papillary CA arising in follicular nodule | 19.80% (20/101) | Nodule with papillary CA = 25% of surface area (Fig. 1, C and D) |
| Sister 2 (patient B) | DTC, MNG | c.5441C>T | c.5425G>A | p.Gly1809Arg | Papillary CA arising in follicular nodule | 36.50% (729/1998) | Nodule with papillary CA = 40% of surface area (Fig. 1, A and B) |
| Sister 3 | MNG | c.5441C>T | No hotspot variants | NA | Encapsulated follicular nodule with necrosis | NA | Nodule with necrotic/degenerative change = 40% of surface area |
| Sister 4 | MNG (US) | c.5441C>T | No pathological sample | NA | NA | NA | NA |
| Brother | DTC | c.5441C>T | c.5126A>G | p.Asp1709Gly | Left lobe follicular nodule with papillary hyperplasia and focal papillary CA | 33.70% (34/101) | Nodule = 40% of surface area with papillary CA 1% (Fig. 1, E and F) |
| MNG | c.5428G>C | p.Asp1810His | Right lobe follicular nodule with papillary hyperplasia and focal papillary CA | 30.30% (590/1946) | Nodule = 40% of surface area with papillary CA 5% |
Abbreviations: CA, carcinoma; NA, not applicable.