Journal of Pathology and Translational Medicine

Case Study

Morule-like features in pulmonary adenocarcinoma associated with epidermal growth factor receptor mutations: two case reports with targeted next-generation sequencing analysis: Yoo Jin Lee, Harim Oh, Eojin Kim, Bokyung Ahn, Jeong Hyeon Lee, Youngseok Lee, Yang Seok Chae, Chul Hwan Kim; J Pathol Transl Med. 2020;54(1):119-122. Published online November 1, 2019; DOI: https://doi.org/10.4132/jptm.2019.09.30

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Morules, or morule-like features, can be identified in benign and malignant lesions in various organs. Morular features are unusual in pulmonary adenocarcinoma cases with only 26 cases reported to date. Here, we describe two cases of pulmonary adenocarcinoma with morule-like features in Korean women. One patient had a non-mucinous-type adenocarcinoma in situ and the other had an acinarpredominant adenocarcinoma with a micropapillary component. Both patients showed multiple intra-alveolar, nodular, whorled proliferative foci composed of atypical spindle cells with eosinophilic cytoplasm. Targeted next-generation sequencing was performed on DNA extracted from formalin-fixed paraffin-embedded samples of the tumors. Results showed unusual epidermal growth factor receptor (EGFR) mutations, which are associated with drug resistance to EGFR tyrosine kinase inhibitors, revealing the importance of identifying morule-like features in pulmonary adenocarcinoma and the need for additional study, since there are few reported cases.

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Pulmonary adenocarcinoma in situ with morule - like components: A surgical case report
Mitsuteru Yosida, Mitsuru Tomita, Naoya Kawakita, Teruki Shimizu, Ryou Yamada, Hiromitsu Takizawa, Hisanori Uehara
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Clinicopathological, Radiological, and Molecular Features of Primary Lung Adenocarcinoma with Morule-Like Components
Li-Li Wang, Li Ding, Peng Zhao, Jing-Jing Guan, Xiao-Bin Ji, Xiao-Li Zhou, Shi-Hong Shao, Yu-Wei Zou, Wei-Wei Fu, Dong-Liang Lin, Dong Pan
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Brief Case Reports

Adenocarcinoma Arising in an Ectopic Hamartomatous Thymoma with HER2 Overexpression: Harim Oh, Eojin Kim, Bokyung Ahn, Jeong Hyeon Lee, Youngseok Lee, Yang Seok Chae, Chul Hwan Kim, Yoo Jin Lee; J Pathol Transl Med. 2019;53(6):403-406. Published online August 19, 2019; DOI: https://doi.org/10.4132/jptm.2019.06.23

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Branchioma: immunohistochemical and molecular genetic study of 23 cases highlighting frequent loss of retinoblastoma 1 immunoexpression
Martina Bradová, Lester D. R. Thompson, Martin Hyrcza, Tomáš Vaněček, Petr Grossman, Michael Michal, Veronika Hájková, Touraj Taheri, Niels Rupp, David Suster, Sunil Lakhani, Dimitar Hadži Nikolov, Radim Žalud, Alena Skálová, Michal Michal, Abbas Agaimy
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Adenocarcinoma arising in branchioma with a KRAS and TP53 mutation
Natsuki Taniguchi, Akira Satou, Takanori Ito, Masato Nakaguro, Toyonori Tsuzuki
Pathology International.2023; 73(7): 317. CrossRef
Two Ectopic Hamartomatous Thymomas of Suprasternal Region of the Neck in A Single Patient: A Case Report
Wei WANG, Manmei LONG, Zhichao WANG
Chinese Journal of Plastic and Reconstructive Surgery.2021; 3(1): 51. CrossRef

Human Papillomavirus–Related Multiphenotypic Sinonasal Carcinoma with Late Recurrence: Bokyung Ahn, Eojin Kim, Harim Oh, Yang-Seok Chae, Chul Hwan Kim, Youngseok Lee, Jeong Hyeon Lee, Yoo Jin Lee; J Pathol Transl Med. 2019;53(5):337-340. Published online April 25, 2019; DOI: https://doi.org/10.4132/jptm.2019.04.02

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HPV-Related Multiphenotypic Sinonasal Carcinoma: A Clinicoradiological Series of 3 Cases With Full Endoscopic Surgical Outcome
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Satoru Miyamaru, Yu Shimoda, Kohei Nishimoto, Hiroyuki Ueda, Masako Masuda, Taro Okazaki, Tetsuji Sanuki, Yumi Honda, Yoshiki Mikami, Yorihisa Orita
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Original Articles

Comparison of the Mismatch Repair System between Primary and Metastatic Colorectal Cancers Using Immunohistochemistry: Jiyoon Jung, Youngjin Kang, Yoo Jin Lee, Eojin Kim, Bokyung Ahn, Eunjung Lee, Joo Young Kim, Jeong Hyeon Lee, Youngseok Lee, Chul Hwan Kim, Yang-Seok Chae; J Pathol Transl Med. 2017;51(2):129-136. Published online February 14, 2017; DOI: https://doi.org/10.4132/jptm.2016.12.09

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Abstract PDF

Background
Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%–15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses. Methods: In this study, comparison between the MMR system of primary CRCs and paired liver and lung metastatic lesions was done using IHC and the correlation with clinical outcomes was also examined. Results: Based on IHC, 7/61 primary tumors (11.4%) showed deficient MMR systems, while 13/61 secondary tumors (21.3%) showed deficiencies. In total, 44 cases showed proficient expression in both the primary and metastatic lesions. Three cases showed deficiencies in both the primary and paired metastatic lesions. In 10 cases, proficient expression was found only in the primary lesions, and not in the corresponding metastatic lesions. In four cases, proficient expression was detected in the secondary tumor, but not in the primary tumor. Conclusions: Although each IHC result and the likely defective genes were not exactly matched between the primary and the metastatic tumors, identical results for primary and metastatic lesions were obtained in 77% of the cases (47/61). These data are in agreement with the previous microsatellite detection studies that used PCR and IHC.

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Histomorphological and molecular genetic characterization of different intratumoral regions and matched metastatic lymph nodes of colorectal cancer with heterogenous mismatch repair protein expression
Jing Zhang, Xin Zhang, Qian Wang, Yu-yin Xu, Qian-lan Yao, Dan Huang, Wei-qi Sheng, Xiao-li Zhu, Xiao-yan Zhou, Qian-ming Bai
Journal of Cancer Research and Clinical Oncology.2023; 149(7): 3423. CrossRef
Intraindividual Tumor Heterogeneity of Mismatch Repair Status in Metastatic Colorectal Cancer
Qianpeng Huang, Tao Yu, Lei Li, Qi Zhang, Shiyao Zhang, Baosong Li, Xiaoping Li, Wanyi Xiao, Gang Liu
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Heterogeneity of Mismatch Repair Status and Microsatellite Instability between Primary Tumour and Metastasis and Its Implications for Immunotherapy in Colorectal Cancers
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Dennis Lee Sacdalan, Reynaldo L Garcia, Michele H Diwa, Danielle Benedict Sacdalan
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Snehal B. Patel, Robert Bookstein, Navid Farahani, Myriam Chevarie-Davis, Andy Pao, Angela Aguiluz, Christian Riley, Jennelle C. Hodge, Serhan Alkan, Zhenqui Liu, Nan Deng, Jean R. Lopategui
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Elizabeth M. Jacobi, Gene Landon, Russell R. Broaddus, Sinchita Roy-Chowdhuri
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Médecine de précision et immunoradiothérapie
C. Chargari, C. Robert, C. Genestie, E. Deutsch
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James Saller, Dahui Qin, Seth Felder, Domenico Coppola
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Should you repeat mismatch repair testing in cases of tumour recurrence? An evaluation of repeat mismatch repair testing by the use of immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts
John J Aird, Michael J Steel, Christine Chow, Julie Ho, Robert Wolber, C Blake Gilks, Lynn N Hoang, David F Schaeffer
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Microsatellite instability as a unique characteristic of tumors and a predictor of response to immune therapy
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Spontaneous regression of transverse colon cancer with high-frequency microsatellite instability: a case report and literature review
Nozomi Karakuchi, Manabu Shimomura, Kazuhiro Toyota, Takao Hinoi, Hideki Yamamoto, Seiji Sadamoto, Koichi Mandai, Hiroyuki Egi, Hideki Ohdan, Tadateru Takahashi
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D.S. Bhullar, J. Barriuso, S. Mullamitha, M.P. Saunders, S.T. O'Dwyer, O. Aziz
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Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins
Amira Jaballah-Gabteni, Haifa Tounsi, Maria Kabbage, Yosr Hamdi, Sahar Elouej, Ines Ben Ayed, Mouna Medhioub, Moufida Mahmoudi, Hamza Dallali, Hamza Yaiche, Nadia Ben Jemii, Afifa Maaloul, Najla Mezghani, Sonia Abdelhak, Lamine Hamzaoui, Mousaddak Azzouz,
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Zheng Wang, Xiaoli Tang, Xiaoqing Wu, Meiyuan Yang, Daorong Wang
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Heterogeneity of mismatch repair defect in colorectal cancer and its implications in clinical practice
Gaelle Tachon, Eric Frouin, Lucie Karayan-Tapon, Marie-Luce Auriault, Julie Godet, Valerie Moulin, Qing Wang, David Tougeron
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Marina Baretti, Dung T. Le
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Discordant loss of mismatch repair proteins in advanced endometrial endometrioid carcinoma compared to paired primary uterine tumors
Robert M. Ta, Jonathan L. Hecht, Douglas I. Lin
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The CpG island methylator phenotype is concordant between primary colorectal carcinoma and matched distant metastases
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Does Polymerase Chain Reaction of Tissue Specimens Aid in the Diagnosis of Tuberculosis?: Yoo Jin Lee, Seojin Kim, Youngjin Kang, Jiyoon Jung, Eunjung Lee, Joo-Young Kim, Jeong Hyeon Lee, Youngseok Lee, Yang-seok Chae, Chul Hwan Kim; J Pathol Transl Med. 2016;50(6):451-458. Published online October 10, 2016; DOI: https://doi.org/10.4132/jptm.2016.08.04

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Abstract PDF

Background
Mycobacterial culture is the gold standard test for diagnosing tuberculosis (TB), but it is time-consuming. Polymerase chain reaction (PCR) is a highly sensitive and specific method that can reduce the time required for diagnosis. The diagnostic efficacy of PCR differs, so this study determined the actual sensitivity of TB-PCR in tissue specimens.
Methods
We retrospectively reviewed 574 cases. The results of the nested PCR of the IS6110 gene, mycobacterial culture, TB-specific antigen-induced interferon-γ release assay (IGRA), acid-fast bacilli (AFB) staining, and histological findings were evaluated.
Results
The positivity rates were 17.6% for PCR, 3.3% for the AFB stain, 22.2% for mycobacterial culture, and 55.4% for IGRA. PCR had a low sensitivity (51.1%) and a high specificity (86.3%) based on the culture results of other studies. The sensitivity was higher (65.5%) in cases with necrotizing granuloma but showed the highest sensitivity (66.7%) in those with necrosis only. The concordance rate between the methods indicated that PCR was the best method compared to mycobacterial culture, and the concordance rate increased for the methods using positive result for PCR or histologic features.
Conclusions
PCR of tissue specimens is a good alternative to detect tuberculosis, but it may not be as sensitive as previously suggested. Its reliability may also be influenced by some histological features. Our data showed a higher sensitivity when specimens contained necrosis, which indicated that only specimens with necrosis should be used for PCR to detect tuberculosis.

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Brief Case Report

Intramuscular Tenosynovial Giant Cell Tumor, Diffuse-Type: Yoo Jin Lee, Youngjin Kang, Jiyoon Jung, Seojin Kim, Chul Hwan Kim; J Pathol Transl Med. 2016;50(4):306-308. Published online January 11, 2016; DOI: https://doi.org/10.4132/jptm.2015.11.15

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Original Article

EGFR Gene Amplification and Protein Expression in Invasive Ductal Carcinoma of the Breast: Won Hwangbo, Jeong Hyeon Lee, Sangjeong Ahn, Seojin Kim, Kyong Hwa Park, Chul Hwan Kim, Insun Kim; Korean J Pathol. 2013;47(2):107-115. Published online April 24, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.2.107

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Abstract PDF

Background

The epidermal growth factor receptor (EGFR) is a surrogate marker for basal-like breast cancer. A recent study suggested that EGFR may be used as a target for breast cancer treatment.

Methods

A total of 706 invasive ductal carcinomas (IDC) of the breast were immunophenotyped, and 82 cases with EGFR protein expression were studied for EGFR gene amplification.

Results

EGFR protein was expressed in 121 of 706 IDCs (17.1%); 5.9% were of luminal type, 25.3% of epidermal growth factor receptor 2 (HER-2) type, and 79.3% of basal-like tumors. EGFR gene amplification and high polysomy (fluorescent in situ hybridization [FISH]-positive) were found in 18 of 82 cases (22.0%); 41.2% of the HER-2⁺, EGFR⁺, cytokeratin 5/6^- (CK5/6^-) group, 11.2% of the HER-2^-, EGFR⁺, CK5/6^- group, and 19.1% of the HER-2^-, EGFR⁺, CK5/6⁺ group. FISH-positive cases were detected in 8.3% of the EGFR protein 1⁺ expression cases, 15.9% of 2⁺ expression cases, and 38.5% of 3⁺ expression cases. In group 2, the tumors had a high Ki-67 labeling (>60%), but the patients showed better disease-free survival than those with tumors that co-expressed HER-2 or CK5/6.

Conclusions

EGFR-directed therapy can be considered in breast cancer patients with EGFR protein overexpression and gene amplification, and its therapeutic implication should be determined in HER-2 type breast cancer patients.

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