Journal of Pathology and Translational Medicine

Original Article

Highly prevalent BRAF V600E and low-frequency TERT promoter mutations underlie papillary thyroid carcinoma in Koreans: Sue Youn Kim, Taeeun Kim, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim, Chan Kwon Jung; J Pathol Transl Med. 2020;54(4):310-317. Published online June 15, 2020; DOI: https://doi.org/10.4132/jptm.2020.05.12

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Background
The presence of telomerase reverse transcriptase (TERT) promoter mutations have been associated with a poor prognosis in patients with papillary thyroid carcinomas (PTC). The frequency of TERT promoter mutations varies widely depending on the population and the nature of the study.
Methods
Data were prospectively collected in 724 consecutive patients who underwent thyroidectomy for PTC from 2018 to 2019. Molecular testing for BRAF V600E and TERT promoter mutations was performed in all cases.
Results
TERT promoter alterations in two hotspots (C228T and C250T) and C216T were found in 16 (2.2%) and 4 (0.6%) of all PTCs, respectively. The hotspot mutations were significantly associated with older age at diagnosis, larger tumor size, extrathyroidal extension, higher pathologic T category, lateral lymph node metastasis, and higher American Thyroid Association recurrence risk. The patients with C216T variant were younger and had a lower American Thyroid Association recurrence risk than those with hotspot mutations. Concurrent BRAF V600E was found in 19 of 20 cases with TERT promoter mutations. Of 518 microcarcinomas measuring ≤1.0 cm in size, hotspot mutations and C216T variants were detected in five (1.0%) and three (0.6%) cases, respectively.
Conclusions
Our study indicates a low frequency of TERT promoter mutations in Korean patients with PTC and supports previous findings that TERT promoter mutations are more common in older patients with unfavorable clinicopathologic features and BRAF V600E. TERT promoter mutations in patients with microcarcinoma are uncommon and may have a limited role in risk stratification. The C216T variant seems to have no clinicopathologic effect on PTC.

Citations

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Case Study

Peripheral Primitive Neuroectodermal Tumor with Osseous Component of the Small Bowel Mesentery: A Case Study: Joon Mee Kim, Young Chae Chu, Chang Hwan Choi, Lucia Kim, Suk Jin Choi, In Suh Park, Jee Young Han, Kyung Rae Kim, Yoon-La Choi, Taeeun Kim; Korean J Pathol. 2013;47(1):77-81. Published online February 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.77

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Abstract PDF

A case of peripheral primitive neuroectodermal tumor of the small bowel mesentery with osseous component is reported. A 23-year-old man was admitted to our hospital because of acute severe abdominal pain. Abdominal computed tomography revealed a large solid and cystic, oval shaped mass, measuring 11.0×6.0 cm in the pelvic cavity. Histologically the resected lesion consisted of sheets of undifferentiated small round cells forming Homer-Wright rosettes and perivascular pseudorosettes, and showed areas of osteoid and bone formation. Immunohistochemical studies revealed that tumor cells expressed positivity against CD99 (MIC2), CD57, neuron-specific enolase, and vimentin. Fluorescence in situ hybridization study revealed Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement on chromosome 22q12. To the authors' knowledge this is the first documentation of a peripheral neuroectodermal tumor with osteoid and bone formation of the small bowel mesentery.

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Original Articles

Comparative Study of Metaplastic Breast Carcinoma and Triple-Negative Breast Carcinoma Using Histologic and Immunohistochemical Analyses.: Ji Yeon Kim, Taeeun Kim, Eun Yoon Cho; Korean J Pathol. 2010;44(6):605-612.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.6.605

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Abstract PDF

BACKGROUND
Metaplastic carcinoma of the breast is a rare subtype of breast cancer, which is characterized by estrogen receptor/progesterone receptor and HER2 negativity.
METHODS
Tissue specimens from 60 metaplastic breast cancer and 60 triple-negative breast cancer patients diagnosed at a single institution between 1995 and 2009 were analyzed. Immunohistochemistry for caveolin-1 (CAV-1), vascular endothelial growth factor (VEGF), epidermal growth factor receptor (EGFR), c-kit, p53, Ki-67, breast cancer type 1 susceptibility protein (BRCA1), cytokeratin (CK)14, and CK17 were performed on both retained tissue sets.
RESULTS
Of the 60 metaplastic carcinomas, 15 tumors (25%) exhibited spindle cell component, 27 (45%) exhibited chondroid differentiation, and 18 (30%) exhibited squamous areas. Compared to triple-negative carcinomas, metaplastic carcinomas significantly more frequently expressed CK14 (p < 0.0001), CK17 (p = 0.002), EGFR (p < 0.0001), CAV-1 (p < 0.0001), and VEGF (p = 0.029). However, expressions of BRCA1, p53, c-kit, and Ki-67 were not significantly different between both groups.
CONCLUSIONS
The expression profile of metaplastic carcinoma of the breast is more homogeneous than that of other triple-negative tumors and frequently over-expresses basal markers, CAV-1, and VEGF. A typical "basal-like" phenotype and frequent expressions of CAV-1 and VEGF may justify specific therapeutic approaches.

Citations

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Metaplastic Carcinoma of the Breast with Squamous Differentiation: A Case Report from the University Teaching Hospital of Kigali (CHUK), Rwanda
Delphine Uwamariya, Carine Nyampinga, Anne Yvette Nsenguwera, Belson Rugwizangoga, Piero Tosi
Case Reports in Pathology.2020; 2020: 1. CrossRef

The Frequency of BRAF Mutation in Very Small Papillary Thyroid Carcinomas.: Taeeun Kim, Ji Hyun Roh, Hee Jung Park, Jee Eun Kwon, So Young Kang, Yoon La Choi, Young Lyun Oh; Korean J Pathol. 2010;44(3):308-314.; DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.3.308

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18 Download
3 Crossref

Abstract PDF

BACKGROUND
Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid and BRAF (V600E) is the most frequent genetic alteration in PTCs. The aim of this study was to investigate the frequency of BRAF mutation, especially in very small PTCs.
METHODS
We analyzed the presence of the BRAF mutation in PTCs in subgroups defined by tumor size (0.5 cm intervals).
RESULTS
Of 140 patients, 85 (60.7%) showed a BRAF mutation. The frequency of BRAF mutation in the subgroup was: 45/70 (64.3%) in tumors less than 0.5 cm in size, 18/28 (64.3%) in 0.6-1 cm tumors, 10/22 (45.5%) in 1.1-1.5 cm tumors, and 12/20 (60.0%) in 1.6-2 cm tumors. There was no statistically significant association between BRAF mutation and tumor size (p = 0.44). Similarly, BRAF mutation was not statistically related to age, sex, stage, perithyroidal extension or lymph node metastasis. On multivariate logistic regression analysis, tumor sizes larger than 0.5 cm were associated with lymph node metastasis (odds ratio, 3.79; 95% confidence interval, 1.81 to 7.91; p < 0.01).
CONCLUSIONS
The BRAF mutation is not related to tumor size even in very small PTCs. The similar frequency of BRAF mutation in very small PTCs suggests that the BRAF mutation is a very early event in the tumorigenesis of PTCs.

Citations

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BRAF mutation detection in indeterminate thyroid cytology specimens
N. Paul Ohori, Rashi Singhal, Marina N. Nikiforova, Linwah Yip, Karen E. Schoedel, Christopher Coyne, Kelly L. McCoy, Shane O. LeBeau, Steven P. Hodak, Sally E. Carty, Yuri E. Nikiforov
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BRAFV600E mutation does not serve as a prognostic factor in Korean patients with papillary thyroid carcinoma
Dongbin Ahn, June Sik Park, Jin Ho Sohn, Jae Hyug Kim, Sun-Kyun Park, An Na Seo, Ji Young Park
Auris Nasus Larynx.2012; 39(2): 198. CrossRef
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