Mutational profile of papillary thyroid microcarcinoma with extensive lymph node metastasis
| Autor: | Young Kee Shong, Tae Yong Kim, Sung-Min Chun, Min Ji Jeon, Kyeong Woon Choi, Dong Eun Song, Deokhoon Kim, Se Jin Jang, Ji-Young Lee, Won Bae Kim, Won Gu Kim |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male Proto-Oncogene Proteins B-raf Endocrinology Diabetes and Metabolism Nonsense mutation DNA Mutational Analysis 030209 endocrinology & metabolism Frameshift mutation Metastasis 03 medical and health sciences 0302 clinical medicine Endocrinology Carcinoma medicine ROS1 Missense mutation Humans Thyroid Neoplasms Lymph node business.industry High-Throughput Nucleotide Sequencing Janus Kinase 2 Middle Aged medicine.disease Primary tumor Carcinoma Papillary medicine.anatomical_structure 030220 oncology & carcinogenesis Lymphatic Metastasis Mutation Cancer research Female Lymph Nodes business |
| Zdroj: | Endocrine. 64(1) |
| ISSN: | 1559-0100 |
| Popis: | Papillary thyroid microcarcinoma (PTMC) has excellent outcomes, but extensive lymph node (LN) metastasis can be associated with fatal outcomes. We evaluated the mutational profiles of primary tumors and their metastatic LNs of PTMCs with extensive lateral cervical LN metastases. Formalin-fixed, paraffin-embedded archival samples from 16 sets of normal thyroid tissue, the primary PTMC, and the largest metastatic LN were used for targeted sequencing. A total of seven somatic variants were confirmed in the PTMCs compared to the normal tissue. The BRAFV600E mutation was the most common and seen in 12 primary tumors (75%) and 11 metastatic LNs (69%). A nonsense mutation in AR and an in-frame deletion in ACVR2A were detected in one primary tumor and its metastatic LN (6%). Missense mutations in KMT2A, RAF1, and ROS1 were detected in one primary tumor (3%). A frameshift deletion mutation in JAK2 was detected in a metastatic LN (3%). In PTMCs without the BRAF mutation, an ALK and RET rearrangement (one PTMC and its metastatic LN, 6%) was detected. In one patient, the BRAF mutation was detected in the primary tumor, but only a RET rearrangement was detected in its metastatic LN. No mutations were detected in two patients. The mutational frequency of PTMCs was really low, even in those with extensive LN metastasis. The mutational status of the primary tumor and its metastatic LNs were not significantly different, and this suggests a minor role for genetic alterations in the process of LN metastasis in PTMC. |
| Databáze: | OpenAIRE |
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