Table 2.
Studies from Asian countries with details of genetic alterations in pediatric patients.
| Studies | Year | Country | Age Range (Years) | n | Sporadic/Post Radiation | Subtypes | Molecular Method Used | BRAF V600E | RET/PTC | BRAF Fusion | TERT Promoter Mutation | RAS Mutation | NTRK Fusions | Additional Alterations |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Motomura et al. [111] | 1998 | Japan | 9–14 | 10 | Sporadic | Classical (6) F-PTC (2) DS-PTC (1) S-PTC (1) |
RT-PCR followed by southern hybridization | - |
RET/PTC1 20% RET/PTC3 10% |
- | - | - | - | - |
| Kumagai et al. [81] | 2005 | Japan | <15 | 31 | Sporadic | Classical (27) F-PTC (2) FTC (1) PDTC (1) |
Direct sequencing, RT-PCR | 3.2% | - | - | - | 0 | - | - |
| ≤15 | 15 | Radiation # | Classical (2) S-PTC (4) F-PTC (2) Mixed (7) |
0 | - | - | - | 0 | 33.3% | - | ||||
| 15–31 | 33 | Radiation # | Classical (7) S-PTC (1) F-PTC (9) Mixed (16) |
24.2% | - | - | - | 6.1% | 36.4% | - | ||||
| Mitsutake et al. [68] | 2015 | Japan | ≤22 | 68 | Likely sporadic $ | Classical (61) F-PTC (2) CMTC (4) PDTC (1) |
Direct sequencing, RT-PCR | 63.2% |
RET/PTC1 8.8% RET/PTC3 1.5% |
0 | 0 | 0 | 5.9% | - |
| Alzahrani et al. [7] |
2016 | Saudi Arabia | ≤18 | 55 | Sporadic | Classical (44) FV (6) TC-PTC (1) DS-PTC (1) FTC (2) PDTC (1) |
Direct sequencing | 22.6% | - | - | 1.8% | - | - | - |
| Alzahrani et al. * [72] | 2017 | Saudi Arabia | ≤18 yrs | 79 | Sporadic | Classical (72) F-PTC (7) |
Direct sequencing | 24.1% | - | - | 1.3% | 2.5% | - |
PIK3CA exon 9: 1.4% PIK3CA exon 20: 1.3% PTEN exon 5: 1.4% |
| Geng et al. ° [112] | 2017 | China | 3–13 | 48 | Sporadic | Classical (41) F-PTC (5) DS-PTC (2) |
Direct sequencing | 35.4% | - | - | - | - | - | - |
| Oishi et al. [65] | 2017 | Japan | ≤20 | 81 | Sporadic | Classical (66) CMTC (1) F-PTC (2) DS-PTC (4) S-PTC (8) |
Allele specific PCR and/or Sanger sequencing | 54% | - | - | 0% | - | - | - |
| Vuong et al. [88] | 2017 | Japan | <21 | 41 | Sporadic | FTC (41) | Direct sequencing and RT-PCR | - | - | - | - | 12.2% | - | 0% (PAX8/PPARG) |
| Geng et al. ° [84] | 2019 | China | 3–13 | 48 | Sporadic | Classical (41) F-PTC (5) DS-PTC (2) |
Direct sequencing | - | - | - | 27.1% | - | - | - |
| Kure et al. [113] | 2019 | Japan | 13–19 | 7 | Sporadic | Classical (5) CMTC (1) Classical with poorly differentiated component (1) |
Direct sequencing | 29% | - | - | - | - | - | - |
| Iwadate el al. & [114] | 2020 | Japan | 0–24 | 138 | Likely sporadic $ | Classical (125) CMTC (4) F-PTC (3) DS-PTC (2) S-PTC (2) PDTC (1) Others (1) |
Direct sequencing and RT-PCR | 70.6% of PTCs |
RET/PTC1 5.9% of PTCs RET/PTC3 0.7% of PTCs |
- | - | - | 5.9% of PTCs |
AFAP1L2/RET (0.7% of PTCs) PPFIBP2/RET (0.7% of PTCs) STRN/ALK (1.5% of PTCs) KIAA1217/RET (0.7% of PTCs) Delta RFP/RET (0.7% of PTCs) |
| Chakraborty et al. [71] | 2020 | India | ≤20 | 100 | Sporadic | Classical (72) F-PTC (24) TC-PTC (2) FTC (2) |
Direct sequencing | 14% | - | - | 0% | - | - | - |
| Lee et al. [49] | 2020 | Republic of Korea | <20 | 15 | 10 sporadic, 4 DICER1 syndrome, 1 PTEN hamartoma syndrome | FTC | WES, targeted NGS, direct sequencing | - | - | - | 0% | 0% | - | DICER1 (53.3%), PTEN (6.7%), PAX8/PPARG (6.7%) |
| Bae et al. [47] | 2021 | Japan, Republic of Korea | <18 | 41 | Sporadic | Follicular-patterned tumors ∗ | Targeted NGS | 0% | 0% | 0% | 0% | 20% | 0% | DICER1 (22%), FGFR3 (15%), PTEN (12%), STK11 (10%), APC (5%), TSHR (5%), CTNNB1 (2%), TP53 (2%), EIF1AX (2%), FGFR4 (2%), GNAS (2%), RET (2%), SOS1 (2%), THADA/IGF2BP3 (2%) |
| Lee et al. [83] | 2021 | Republic of Korea | <10 | 14 | Sporadic and radiation ^ | Classical (75) DS-PTC (14) Others (15) |
NGS, direct sequencing, FISH, and/or IHC. | 0% | 64.3% | - | 7.1% | 0% | 14.3% | 0% (DICER1) |
| 10–15 | 40 | 27.5% | 20% | - | 0% | 0% | 5% | 2.5% (DICER1) | ||||||
| 15–20 | 52 | 57.7% | 7.7% | - | 1.9% | 0% | 0% | 7.7% (DICER1) |
Abbreviations: Classical: classical PTC; CMTC: cribriform morular thyroid carcinoma; DS-PTC: diffuse sclerosing subtype of PTC; FISH: fluorescence in situ hybridization; FTC: follicular thyroid carcinoma; F-PTC: follicular subtype of PTC; Hobnail: hobnail subtype of PTC IHC: immunohistochemistry; NGS: next generation sequencing; PDTC: poorly differentiated thyroid carcinoma; S-PTC: solid subtype of PTC; TC-PTC: tall cell subtype of PTC # post-Chernobyl, $ post-Fukushima Daiichi Nuclear Power Plant accident, but unlikely to be radiation-induced. * Includes patients from their previous study [7]. ° Includes the same cohort in both studies. & Includes patients from their previous study [68]. ^ Prior history of radiotherapy.