[BRAFV599E mutation and RET/PTC rearrangements in papillary thyroid carcinoma].
OBJECTIVE
To detect the BRAF(V599E) mutation and the RET/PTC chimeric gene in benign and malignant thyroid diseases and to explore their correlation with the clinicopathologic features of papillary thyroid carcinoma (PTC).


METHODS
PCR and RT-PCR were employed to detect BRAF(V599E) mutation and RET/PTC chimeric genes in 95 frozen and parraffine-embeded thyroid tissue.


RESULTS
(1) BRAF(V599E) mutation was detected only in PTC (56%, 37/66) and had a high prevalence in both classic and tall cell types (70%, 29/41 and 2/3). However, follicular types of PTC and other benign and malignant thyroid diseases were negative for BRAF(V599E) mutation. (2) Fourteen (21.2%) PTC cases expressed RET/PTC chimeric gene. Among them, 5 cases (7.6%) were RET/PTC1 and 9 cases (13.6%) were RET/PTC3 respectively. (3) Statistic data did not show any correlation between the BRAF(V599E) mutation, RET/PTC and clinicopathologic features of PTC (P > 0.05). There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements.


CONCLUSIONS
(1) BRAF(V599E) mutation and RET/PTC rearrangements were unique to PTC. The high prevalence of BRAF(V599E) mutation indicates that it is an important molecular hallmark of PTC. (2) BRAF(V599E) mutation rate was high in classic type PTC and tall cell type inferred that BRAF(V599E) mutation played an important role in their etiopathogenesis. (3) There was no overlap between BRAF(V599E) mutation and RET/PTC rearrangements suggest that they are alternative events in PTC.
Zhu
Xiao-li
XL
Department of Pathology, Cancer Hospital of Fudan University, Shanghai 200032, China.
Zhou
Xiao-yan
XY
Zhu
Xiong-zeng
XZ
D018263:Adenocarcinoma, Follicular / Q000235:genetics / Q000473:pathology; D000236:Adenoma / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D002291:Carcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D015321:Gene Rearrangement; D050031:Hashimoto Disease / Q000235:genetics / Q000473:pathology; D006801:Humans; D008207:Lymphatic Metastasis; D008297:Male; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics* / Q000378:metabolism; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics* / Q000378:metabolism; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology
D015514:Oncogene Proteins, Fusion; D011505:Protein-Tyrosine Kinases; C093573:ret-PTC fusion oncoproteins, human; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf