Relevance of BRAF and NRAS mutations in the primary tumor and metastases of papillary thyroid carcinomas.
نویسندگان
چکیده
BACKGROUND Multifocality of papillary thyroid carcinoma (PTC) is common. BRAF and NRAS mutations are the most frequent genetic alterations in PTC. The purpose of this study was to determine the distribution and relevance of BRAFT1799A and NRAS mutations in PTC. METHODS BRAFT1799A and NRAS mutations were evaluated in 195 intrathyroid or metastatic foci from 29 patients with multifocal PTC. RESULTS BRAFT1799A mutation was positive in 46.7% of the 59 intrathyroid and 136 metastatic foci (91/195 foci). Heterogeneous BRAF pattern was observed in 51.7% patients (15/29 patients). Irrespective of BRAF status at diagnosis (thyroid or nodes), all patients with recurrent PTC presented BRAF-mutated metastases during follow-up. All foci were negative for NRAS mutations. CONCLUSION BRAF but not NRAS mutations were heterogeneously distributed among primary tumor, nodal sites, and recurrent disease. The BRAF status of metastases generated during the follow-up can differ from the status of foci at diagnosis. © 2016 Wiley Periodicals, Inc. Head Neck 38: 1772-1779, 2016.
منابع مشابه
Mutational analysis of metastatic lymph nodes from papillary thyroid carcinoma in adult and pediatric patients.
BACKGROUND Limited data are available on the analysis of somatic mutations in metastatic lymph nodes in adult and pediatric patients with papillary thyroid carcinomas. METHODS A total of 92, microdissected, formalin-fixed, paraffin-embedded tissue specimens from 39 patients were analyzed for the presence of somatic mutations utilizing the ThyGenX next-generation sequencing test. RESULTS Som...
متن کاملNIS expression in thyroid tumors, relation with prognosis clinicopathological and molecular features
Thyroid cancer therapy is based on surgery followed by radioiodine treatment. The incorporation of radioiodine by cancer cells is mediated by sodium iodide symporter (NIS) (codified by the SLC5A5 gene), that is functional only when targeted to the cell membrane. We aimed to evaluate if NIS expression in thyroid primary tumors would be helpful in predicting tumor behavior, response to therapy an...
متن کاملMutational screening of RET, HRAS, KRAS, NRAS, BRAF, AKT1, and CTNNB1 in medullary thyroid carcinoma.
BACKGROUND Screening medullary thyroid carcinomas (MTCs) for rearranged during transfection (RET) mutations becomes increasingly important for clinical assessment of the disease. The role of mutations in other genes including RAS (i.e. HRAS, KRAS, and NRAS), v-raf murine sarcoma viral oncogene homolog B1 (BRAF), v-akt murine thymoma viral oncogene homolog 1 (AKT1), and CTNNB1 (β-catenin) is unk...
متن کاملMutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1.
Patients with poorly differentiated thyroid cancers (PDTC), anaplastic thyroid cancers (ATC), and radioactive iodine-refractory (RAIR) differentiated thyroid cancers have a high mortality, particularly if positive on [(18)F]fluorodeoxyglucose (FDG)-positron emission tomography (PET). To obtain comprehensive genetic information on advanced thyroid cancers, we designed an assay panel for mass spe...
متن کاملGenetic alterations of differentiated thyroid carcinoma in iodine‐rich and iodine‐deficient countries
BRAF V600E mutation, RET rearrangements, and RAS mutations are the common genetic alterations in differentiated thyroid carcinomas derived from follicular thyroid cells. However, the relationship between these alterations and iodine intake is still controversial. To clarify the influence of iodine intake on the occurrence of differentiated thyroid carcinomas, we performed molecular analyses for...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Head & neck
دوره 38 12 شماره
صفحات -
تاریخ انتشار 2016