DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms †
Abstract
:Simple Summary
Abstract
1. Introduction
2. Materials and Methods
2.1. Study Design, Patients and Tissue Sample Characterization
2.2. DNA Ploidy Analysis
2.3. Nucleic Acid Extraction
2.4. Oligonucleotide aCGH Assay, Data Processing and Analysis
2.5. Triple DNA FISH Assay
2.6. Gene Mutation Analyses
2.7. Translocation Analyses
3. Results
3.1. Clinical, Histopathological and Biological Data
3.2. Training Set on Frozen Tissue
3.3. Validation Set on Touch Preparations from Frozen Tissue
3.4. Feasibility Set on Archived Already Stained Cytological Samples
3.5. FISH Accuracy
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Conflicts of Interest
References
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Characteristics | Unit | Training Set | Validation Set | Total | ||||||
---|---|---|---|---|---|---|---|---|---|---|
Adenoma | Carcinoma | Total | Adenoma | Carcinoma | Total | Adenoma | Carcinoma | Total | ||
Patients | Number | 33 (50%) | 33 (50%) | 66 (100%) | 26 (43%) | 34 (57%) | 60 (100%) | 59 (47%) | 67 (53%) | 126 (100%) |
Gender: | Number | |||||||||
Female | 21 (64%) | 16 (48%) | 37 (56%) | 20 (77%) | 20 (59%) | 40 (67%) | 41 (69%) | 36 (54%) | 77 (61%) | |
Male | 12 (36%) | 17 (52%) | 29 (44%) | 6 (23%) | 14 (41%) | 20 (33%) | 18 (31%) | 31 (46%) | 49 (39%) | |
Age med. (range) | Years | 52 (21–70) | 53 (25–78) | 52 (21–78) | 47 (27–75) | 54 (21–82) | 51 (21–82) | 50 (21–75) | 53 (21–82) | 52 (21–82) |
T size med. (range) | cm | 3 (1–6.4) | 4.5 (1–15) | 3.8 (1–15) | 2.8 (1.5–9) | 4.4 (1.5–11) | 3.7 (1.5–11) | 2.9 (1–9) | 4.5 (1–15) | 3.7 (1–15) |
Follow-up med. (range) | Months | 35 (3–180) | 47 (0–140) | 41 (0–180) | 12 (1–48) | 42 (2–120) | 29 (1–120) | 25 (1–180) | 44 (0–140) | 35 (0–180) |
Clinical status | Number, alive | 32 (100%) | 30 (91%) | 62 (95%) | 26 (100%) | 30 (88%) | 56 (93%) | 58 (100%) | 60 (90%) | 118 (94%) |
Mutations: | ||||||||||
KRAS/NA | 0 (0%)/1 | 0 (0%)/1 | – | 1 (5%)/4 | 0 (0%)/5 | – | 1 (2%)/5 | 0 (0%)/6 | – | |
HRAS/NA | 1 (3%)/1 | 5 (16%)/2 | – | 1 (4%)/2 | 6 (20%)/4 | – | 2 (4%)/3 | 11 (18%)/6 | – | |
NRAS/NA | 2 (6%)/1 | 6 (20%)/3 | – | 4 (17%)/2 | 8 (27%)/4 | – | 6 (11%)/3 | 14 (23%)/7 | – | |
BRAF/NA | 0 (0%)/1 | 1 (3%)/1 | – | 0 (0%)/2 | 0 (0%)/4 | – | 0 (0%)/3 | 1 (2%)/6 | – | |
CTNNB1/NA | 0 (0%)/1 | 0 (0%)/1 | – | – | – | – | 0 (0%)/1 | 0 (0%)/1 | – | |
PIK3CA/NA | 0 (0%)/1 | 0 (0%)/3 | – | – | – | – | 0 (0%)/1 | 0 (0%)/3 | – | |
Translocations: | ||||||||||
PAX8/PPARγ1/NA | 0 (0%)/1 | 3 (12%)/7 | – | 0 (0%)/2 | 2 (6%)/1 | – | 0 (0%)/3 | 5 (8%)/8 | – | |
RET/PTC1/NA | 0 (0%)/0 | 0 (0%)/7 | – | 0 (0%)/0 | 0(0%)/0 | – | 0 (0%)/0 | 0 (0%)/7 | – |
Chromosome | Training Set | Validation Set | Feasibility Set | Total | ||||
---|---|---|---|---|---|---|---|---|
Adenoma aCGH (%)/FISH (%) | Carcinoma aCGH (%)/FISH (%) | Adenoma aCGH (%)/FISH (%) | Carcinoma aCGH (%)/FISH (%) | Adenoma aCGH (%)/FISH (%) | Carcinoma aCGH (%)/FISH (%) | Adenoma aCGH (%)/FISH (%) | Carcinoma aCGH (%)/FISH (%) | |
1p36.31 loss | 0 (0%)/0 (0%) | 5 (15%)/5 (15%) | –/0 (0%) | –/3 (9%)# | –/0 (0%) | –/2 (14%) | 0 (0%)/0 (0%) | 5 (6%)/10 (12%) |
22q13.3 loss | 0 (0%)/1 (3%) | 8 (24%)/8 (24%) | –/0 (0%) | –/12 (35%)# | –/0 (0%) | –/2 (14%) | 0 (0%)/1 (1.4%) | 8 (9.9%)/22 (27%) |
X gain | 1 (3%)/0 (0%) * | 8 (24%)/8 (24%) ** | –/0 (0%) | –/4 (12%)# | –/0 (0%) | –/2 (14%) | 1 (1.4%)/0 (0%) * | 8 (9.9%)/14 (17.3%) ** |
Total | 2 alterations (1 aCGH, 1 FISH) in 2 patients (6%) | 22 alterations (21 aCGH, 21 FISH) ** in 18 patients *** (55%) | 0 alteration (FISH) (0%) | 19 alterations (FISH) in 16 patients (47%) | 0 alteration (FISH) (0%) | 6 alterations (FISH) in 6 patients (43%) | 2 alterations (1 aCGH, 1 FISH) in 2 patients (2.8%) | 47 alterations (21 aCGH, 46 FISH) ** in 40 patients (49.4%) |
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Vielh, P.; Balogh, Z.; Suciu, V.; Richon, C.; Job, B.; Meurice, G.; Valent, A.; Lacroix, L.; Marty, V.; Motte, N.; et al. DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms. Cancers 2020, 12, 2529. https://doi.org/10.3390/cancers12092529
Vielh P, Balogh Z, Suciu V, Richon C, Job B, Meurice G, Valent A, Lacroix L, Marty V, Motte N, et al. DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms. Cancers. 2020; 12(9):2529. https://doi.org/10.3390/cancers12092529
Chicago/Turabian StyleVielh, Philippe, Zsofia Balogh, Voichita Suciu, Catherine Richon, Bastien Job, Guillaume Meurice, Alexander Valent, Ludovic Lacroix, Virginie Marty, Nelly Motte, and et al. 2020. "DNA FISH Diagnostic Assay on Cytological Samples of Thyroid Follicular Neoplasms" Cancers 12, no. 9: 2529. https://doi.org/10.3390/cancers12092529