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. 2015 Nov 10;101(1):1–5. doi: 10.1210/jc.2015-2169

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.