Journal of Pathology and Translational Medicine

Original Article

Analysis of Mutations in Epidermal Growth Factor Receptor Gene in Korean Patients with Non-small Cell Lung Cancer: Summary of a Nationwide Survey: Sang Hwa Lee, Wan Seop Kim, Yoo Duk Choi, Jeong Wook Seo, Joung Ho Han, Mi Jin Kim, Lucia Kim, Geon Kook Lee, Chang Hun Lee, Mee Hye Oh, Gou Young Kim, Sun Hee Sung, Kyo Young Lee, Sun Hee Chang, Mee Sook Rho, Han Kyeom Kim, Soon Hee Jung, Se Jin Jang, The Cardiopulmonary Pathology Study Group of Korean Society of Pathologists; J Pathol Transl Med. 2015;49(6):481-488. Published online October 13, 2015; DOI: https://doi.org/10.4132/jptm.2015.09.14

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Background
Analysis of mutations in the epidermal growth factor receptor gene (EGFR) is important for predicting response to EGFR tyrosine kinase inhibitors. The overall rate of EGFR mutations in Korean patients is variable. To obtain comprehensive data on the status of EGFR mutations in Korean patients with lung cancer, the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists initiated a nationwide survey. Methods: We obtained 1,753 reports on EGFR mutations in patients with lung cancer from 15 hospitals between January and December 2009. We compared EGFR mutations with patient age, sex, history of smoking, histologic diagnosis, specimen type, procurement site, tumor cell dissection, and laboratory status. Results: The overall EGFR mutation rate was 34.3% in patients with non-small cell lung cancer (NSCLC) and 43.3% in patients with adenocarcinoma. EGFR mutation rate was significantly higher in women, never smokers, patients with adenocarcinoma, and patients who had undergone excisional biopsy. EGFR mutation rates did not differ with respect to patient age or procurement site among patients with NSCLC. Conclusions: EGFR mutation rates and statuses were similar to those in published data from other East Asian countries.

Citations

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Case Study

Rhabdoid Colorectal Carcinomas: Reports of Two Cases: Sang Hwa Lee, Hyesil Seol, Wook Youn Kim, So Dug Lim, Wan Seop Kim, Tae Sook Hwang, Hye Seung Han; Korean J Pathol. 2013;47(4):372-377. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.372

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Abstract PDF

Rhabdoid colorectal carcinomas are very rare and only 10 cases have been previously reported. We report two cases of rhabdoid colorectal carcinoma, one arising in the sigmoid colon of a 62-year-old man and another in the rectum of an 83-year-old woman. In both cases, the patients had advanced tumors with lymph node metastases. The tumors mostly showed a diffuse arrangement with rhabdoid features and small glandular regions were combined. Transitional areas from the adenocarcinomas to the rhabdoid tumors were also noted. Adenocarcinoma cells were positive for mixed cytokeratin (CK), CK20 and epithelial membranous antigen (EMA), but focal positive for vimentin. The rhabdoid tumor cells were positive for mixed CK, but focal positive or negative for CK20 and EMA. In addition, they were diffusely positive for vimentin, but negative for desmin. The histological and immunohistologial findings of these two cases suggest that the rhabodid tumor cells originated from dedifferentiated adenocarcinomas.

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SMARCB1/INI1-Deficient Poorly Differentiated Carcinoma of the Colon With Rhabdoid Features—A Rare Tumor With Serrated Phenotype: Case Report and Review of Literature
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International Journal of Surgical Pathology.2024; 32(1): 187. CrossRef
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Yuho Ono, Osman Yilmaz
Journal of Clinical Pathology.2024; : jcp-2023-208816. CrossRef
A Rare Case of Undifferentiated Rhabdoid Carcinoma of the Colon
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Cureus.2022;[Epub] CrossRef
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Masatsugu Kojima, Toru Miyake, Tomoyuki Ueki, Hiroyuki Ohta, Ryoji Kushima, Masanori Shiohara, Hiroo Mizuta, Hiroya Iida, Tsuyoshi Yamaguchi, Sachiko Kaida, Katsushi Takebayashi, Hiromitsu Maehira, Yusuke Nishina, Tomoharu Shimizu, Eiji Mekata, Masaji Tan
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Yuya Ashitomi, Mitsuhiro Yano, Michihisa Kono, Takefumi Suzuki, Ichiro Kawamura, Shinji Okazaki, Yukinori Kamio, Osamu Hachiya, Yuka Urano, Fuyuhiko Motoi
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Original Articles

Clinical Usefulness of SurePath(TM) Liquid-based Cytology in Thyroid Fine Needle Aspiration: Comparison with the Conventional Smear in Diagnostic Efficacy and Applicability of BRAF Mutation Test.: Wook Youn Kim, Sang Hwa Lee, Young Sin Ko, So Dug Lim, Wan Seop Kim, Hye Seung Han, Hye Sil Seol, Seo Young Oh, Won Jin Moon, Tae Sook Hwang; Korean J Pathol. 2011;45(2):188-195.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.2.188

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Abstract PDF

BACKGROUND
Recently, liquid-based cytology (LBC) has been introduced as an alternative to the conventional smear (CS) technique in thyroid fine needle aspiration, due to its diagnostic convenience.
METHODS
We assessed 77 cases of thyroid fine needle aspiration using the SurePath(TM) method (SP) as LBC and CS via split-sample techniques. BRAF mutation tests were carried out via polymerase chain reaction and pyrosequencing immediately after diagnosis or a delay of more than one year.
RESULTS
In a comparison between SP and CS, the rate of concordance between SP and CS was as high as 84.4% (kappa value, 0.754). In comparison with histologic diagnosis, the overall sensitivity was 100% for both. The specificity was 62.5% for SP and 56.3% for CS. Relative to CS, papillary carcinomas on SP slides revealed more accentuated nuclear irregularities, nucleoli, and reduced nuclear size. In contrast to CS, the delayed BRAFV600E mutation test using SP slides after 1-2 years failed. The use of new primers amplifying shorter product size could help the delayed test achieve success.
CONCLUSIONS
Differences in the diagnostic efficacy of SP and CS were negligible. The failure of the delayed BRAF mutation test on the SP slides might be associated with DNA degradation.

Citations

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Comparison of Liquid-Based Preparations with Conventional Smears in Thyroid Fine-Needle Aspirates: A Systematic Review and Meta-Analysis
Yun Jin Kang, Hyeon Woo Lee, Gulnaz Stybayeva, Se Hwan Hwang
Cancers.2024; 16(4): 751. CrossRef
Liquid‐based cytology of pigmented phaeohyphomycotic lesion of the palm masquerading as a metastatic tumor
Thara Keloth, Debasis Gochhait, S Sivaranjani, Neelaiah Siddaraju
Diagnostic Cytopathology.2019; 47(8): 828. CrossRef
DNA degradation in liquid‐based cytology and its comparison with conventional smear
Wook Youn Kim, Seo Young Oh, Hyunkyung Kim, Tae Sook Hwang
Diagnostic Cytopathology.2016; 44(5): 450. CrossRef
Comparison of EASYPREP® and SurePath® in thyroid fine‐needle aspiration
Yosep Chong, Ki Hyun Baek, Jee Young Kim, Tae‐Jung Kim, Eun Jung Lee, Chang Suk Kang
Diagnostic Cytopathology.2016; 44(4): 283. CrossRef
Conventional smears versus liquid-based preparations for thyroid fine-needle aspirates: a systematic review and meta-analysis
Neeraja Nagarajan, Alireza Najafian, Eric B. Schneider, Martha A. Zeiger, Matthew T. Olson
Journal of the American Society of Cytopathology.2015; 4(5): 253. CrossRef
Liquid‐based cytology improves preoperative diagnostic accuracy of the tall cell variant of papillary thyroid carcinoma
Sung Hak Lee, Chan Kwon Jung, Ja Seong Bae, So Lyung Jung, Yeong Jin Choi, Chang Suk Kang
Diagnostic Cytopathology.2014; 42(1): 11. CrossRef
Stability of DNA, RNA, cytomorphology, and immunoantigenicity in Residual ThinPrep® Specimens
Younghye Kim, Kap Ro Choi, Moon Jung Chae, Bong Kyung Shin, Han Kyeom Kim, Aeree Kim, Baek‐hui Kim
APMIS.2013; 121(11): 1064. CrossRef
The Development of the Liquid Cell Smear Device for Liquid-Based Cytology Test
Han Yeong Oh, Ha Ju So, Seong Hyun Kim, Dong Wook Kim, Hyun Chang Kim
Applied Mechanics and Materials.2013; 284-287: 1564. CrossRef

A Consideration of MGMT Gene Promotor Methylation Analysis for Glioblastoma Using Methylation-Specific Polymerase Chain Reaction and Pyrosequencing.: Sang Hwa Lee, Tae Sook Hwang, Young Cho Koh, Wook Youn Kim, Hye Seung Han, Wan Seop Kim, Young Sin Ko, So Dug Lim; Korean J Pathol. 2011;45(1):21-29.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.21

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Abstract PDF

BACKGROUND
O6-methylguanine-DNA methyltransferase (MGMT) gene promoter methylation is currently the most promising predictive marker for the outcome and benefit from temozolomide treatment in patients with glioblastoma, but there is no consensus on the analysis method for assessing the methylation status in the molecular diagnostic field. The objective of this study was to evaluate methylation-specific polymerase chain reaction (MSP) and pyrosequencing methods for assessing MGMT gene promotor methylation of glioblastoma as well as assessing the MGMT protein expression by immunohistochemistry.
METHODS
Twenty-seven cases of glioblastoma from the archives at the Department of Pathology Konkuk University Hospital were selected. MGMT promoter methylation was evaluated by MSP and the pyrosequencing methods. The MGMT expression was also measured at the protein level by immunohistochemistry.
RESULTS
Overall, MGMT hypermethylation was observed in 44.4% (12/27 cases) of the case of glioblastoma using either MSP or pyrosequencing. The concordant rate was 70.3% (19/27 cases) between MSP and pyrosequencing for MGMT methylation. There was no correlation between MGMT methylation and the protein expression. No significant differences in progression free survival and overall survival were seen between the methylated group and the unmethylated group by using either MSP or pyrosequencing. The status of the MGMT protein expression was correlated with progression free survival (p=0.026).
CONCLUSIONS
In this study the concordance rate between MSP and the pyrosequencing methods for assessing MGMT gene promotor methylation was relatively low for the cases of glioblastoma. This suggests that more reliable techniques for routine MGMT methylation study of glioblastoma remain to be developed because of quality control and assurance issues.

Citations

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Prognostic Role of Methylation Status of theMGMTPromoter Determined Quantitatively by Pyrosequencing in Glioblastoma Patients
Dae Cheol Kim, Ki Uk Kim, Young Zoon Kim
Journal of Korean Neurosurgical Society.2016; 59(1): 26. CrossRef
Distinct genetic alterations in pediatric glioblastomas
Sun-ju Byeon, Jae Kyung Myung, Se Hoon Kim, Seung-Ki Kim, Ji Hoon Phi, Sung-Hye Park
Child's Nervous System.2012; 28(7): 1025. CrossRef
MGMTGene Promoter Methylation Analysis by Pyrosequencing of Brain Tumour
Young Zoon Kim, Young Jin Song, Ki Uk Kim, Dae Cheol Kim
The Korean Journal of Pathology.2011; 45(5): 455. CrossRef

Case Report

Desmoplastic Small Round Cell Tumor with Ovarian Involvement: A Case Report.: Sang Hwa Lee, Wan Seop Kim, Ji Hoon Kim, Hye Seung Han, So Dug Lim, Sang Yoon Kim, Tae Sook Hwang; Korean J Pathol. 2009;43(2):185-188.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.2.185

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Abstract PDF: Desmoplastic small round cell tumor (DSRCT) is a rare, aggressive neoplasm that preferentially involves the abdominal and pelvic cavities in relatively young males. We present a rare case of DSRCT arising in the ovary of a 16-year-old girl. During surgery, a 15 cm-sized huge mass was noted in the right ovary and wide spreading of the tumor was identified in the left ovary, uterine wall, and omentum and bowel wall. Histological investigation showed nests of small round cells with round nuclei and scanty eosinophilic cytoplasm accompanied with dense desmoplastic stroma. The immunohistochemistry showed that the tumor coexpressed epithelial, mesenchymal, and neuronal markers. The tumor cells ultrastructurally showed poorly developed cell junctions and occasionally showed intracytoplasmic aggregates of intermediate filaments. Molecular analysis of the tumor revealed chromosomal translocation t(11:22)(p13;q12) associated with the EWS-WT1 fusion protein. DSRCT should be included in the differential diagnosis of ovarian neoplasms in young patients.

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