Journal of Pathology and Translational Medicine

Reviews

Clinical practice recommendations for the use of next-generation sequencing in patients with solid cancer: a joint report from KSMO and KSP: Miso Kim, Hyo Sup Shim, Sheehyun Kim, In Hee Lee, Jihun Kim, Shinkyo Yoon, Hyung-Don Kim, Inkeun Park, Jae Ho Jeong, Changhoon Yoo, Jaekyung Cheon, In-Ho Kim, Jieun Lee, Sook Hee Hong, Sehhoon Park, Hyun Ae Jung, Jin Won Kim, Han Jo Kim, Yongjun Cha, Sun Min Lim, Han Sang Kim, Choong-Kun Lee, Jee Hung Kim, Sang Hoon Chun, Jina Yun, So Yeon Park, Hye Seung Lee, Yong Mee Cho, Soo Jeong Nam, Kiyong Na, Sun Och Yoon, Ahwon Lee, Kee-Taek Jang, Hongseok Yun, Sungyoung Lee, Jee Hyun Kim, Wan-Seop Kim; J Pathol Transl Med. 2024;58(4):147-164. Published online January 10, 2024; DOI: https://doi.org/10.4132/jptm.2023.11.01

4,758 View
468 Download
1 Crossref

In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

Citations

Citations to this article as recorded by

Apport de la génomique dans la prise en charge des cancers
Étienne Rouleau, Lucie Karayan-Tapon, Marie-Dominique Galibert, Alexandre Harlé, Isabelle Soubeyran
Revue Francophone des Laboratoires.2025; 2025(568): 67. CrossRef

Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies: Jiwon Koh, Sun Ah Shin, Ji Ae Lee, Yoon Kyung Jeon; J Pathol Transl Med. 2022;56(4):173-186. Published online July 4, 2022; DOI: https://doi.org/10.4132/jptm.2022.05.16

6,024 View
278 Download
2 Web of Science
3 Crossref

Abstract PDF

Lymphocyte-rich effusions represent benign reactive process or neoplastic condition. Involvement of lymphoproliferative disease in body cavity is not uncommon, and it often causes diagnostic challenge. In this review, we suggest a practical diagnostic approach toward lymphocyte-rich effusions, share representative cases, and discuss the utility of ancillary tests. Cytomorphologic features favoring neoplastic condition include high cellularity, cellular atypia/pleomorphism, monomorphic cell population, and frequent apoptosis, whereas lack of atypia, polymorphic cell population, and predominance of small T cells usually represent benign reactive process. Involvement of non-hematolymphoid malignant cells in body fluid should be ruled out first, followed by categorization of the samples into either small/medium-sized cell dominant or large-sized cell dominant fluid. Small/medium-sized cell dominant effusions require ancillary tests when either cellular atypia or history/clinical suspicion of lymphoproliferative disease is present. Large-sized cell dominant effusions usually suggest neoplastic condition, however, in the settings of initial presentation or low overall cellularity, ancillary studies are helpful for more clarification. Ancillary tests including immunocytochemistry, in situ hybridization, clonality test, and next-generation sequencing can be performed using cytologic preparations. Throughout the diagnostic process, proper review of clinical history, cytomorphologic examination, and application of adequate ancillary tests are key elements for successful diagnosis.

Citations

Citations to this article as recorded by

The urgency of Burkitt lymphoma diagnosis in fluid cytology—A tertiary care experience
Soundarya Ravi, Anu K. Devi, Prabhu Manivannan, Debasis Gochhait, Rakhee Kar, Neelaiah Siddaraju
Cytopathology.2024; 35(2): 275. CrossRef
Immunocytochemistry on frozen-embedded cell block for the diagnosis of hematolymphoid cytology specimen: a straightforward alternative to the conventional cell block
Youjeong Seo, Sanzida Alam Prome, Lucia Kim, Jee Young Han, Joon Mee Kim, Suk Jin Choi
Journal of Hematopathology.2024; 17(1): 1. CrossRef
Lymphoma presenting as the first finding in pleural fluid cytology: A rare cytologic presentation
Kafil Akhtar, Gowthami Nagendhran, Anjum Ara, Masheera Akhtar
IP Archives of Cytology and Histopathology Research.2024; 8(4): 250. CrossRef

DNA-protein biomarkers for immunotherapy in the era of precision oncology: Binnari Kim, So Young Kang, Kyoung-Mee Kim; J Pathol Transl Med. 2021;55(1):26-32. Published online November 9, 2020; DOI: https://doi.org/10.4132/jptm.2020.09.23

5,348 View
181 Download
3 Web of Science
3 Crossref

Abstract PDF

The use of biomarkers to guide patient and therapy selection has gained much attention to increase the scope and complexity of targeted therapy options and immunotherapy. Clinical trials provide a basis for discovery of biomarkers, which can then aid in development of new drugs. To that end, samples from cancer patients, including DNA, RNA, protein, and the metabolome isolated from cancer tissues and blood or urine, are analyzed in various ways to identify relevant biomarkers. In conjunction with nucleotide-based, high-throughput, next-generation sequencing techniques, therapy-guided biomarker assays relying on protein-based immunohistochemistry play a pivotal role in cancer care. In this review, we discuss the current knowledge regarding DNA and protein biomarkers for cancer immunotherapy

Citations

Citations to this article as recorded by

Treatment Selection for Patients with HER2-Negative Metastatic Gastric Cancer Expressing Claudin 18.2 and PD-L1
Yusuke Miyajima, Takeshi Kawakami
Cancers.2025; 17(7): 1120. CrossRef
NCKAP1 as a prognostic and immunological biomarker: pan-cancer analysis and validation in renal clear cell carcinoma
Xiao Liang
American Journal of Translational Research.2024; 16(8): 4083. CrossRef
Biomarkers for Predicting Response to Personalized Immunotherapy in Gastric Cancer
Moonsik Kim, Ji Yun Jeong, An Na Seo
Diagnostics.2023; 13(17): 2782. CrossRef

Original Article

Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer: Hye Jung Hwang, Soo Kyung Nam, Hyunjin Park, Yujun Park, Jiwon Koh, Hee Young Na, Yoonjin Kwak, Woo Ho Kim, Hye Seung Lee; J Pathol Transl Med. 2020;54(5):378-386. Published online July 1, 2020; DOI: https://doi.org/10.4132/jptm.2020.06.01

8,322 View
264 Download
37 Web of Science
32 Crossref

Abstract PDF Supplementary Material

Background
Recently, molecular classifications of gastric cancer (GC) have been proposed that include TP53 mutations and their functional activity. We aimed to demonstrate the correlation between p53 immunohistochemistry (IHC) and TP53 mutations as well as their clinicopathological significance in GC.
Methods
Deep targeted sequencing was performed using surgical or biopsy specimens from 120 patients with GC. IHC for p53 was performed and interpreted as strong, weak, or negative expression. In 18 cases (15.0%) with discrepant TP53 mutation and p53 IHC results, p53 IHC was repeated.
Results
Strong expression of p53 was associated with TP53 missense mutations, negative expression with other types of mutations, and weak expression with wild-type TP53 (p<.001). The sensitivity for each category was 90.9%, 79.0%, and 80.9%, and the specificity was 95.4%, 88.1%, and 92.3%, respectively. The TNM stage at initial diagnosis exhibited a significant correlation with both TP53 mutation type (p=.004) and p53 expression status (p=.029). The Kaplan-Meier survival analysis for 109 stage II and III GC cases showed that patients with TP53 missense mutations had worse overall survival than those in the wild-type and other mutation groups (p=.028). Strong expression of p53 was also associated with worse overall survival in comparison to negative and weak expression (p=.035).
Conclusions
Results of IHC of the p53 protein may be used as a simple surrogate marker of TP53 mutations. However, negative expression of p53 and other types of mutations of TP53 should be carefully interpreted because of its lower sensitivity and different prognostic implications.

Citations

Citations to this article as recorded by

The future is now: advancing p53 immunohistochemistry in Barrett's oesophagus and its implication for the everyday pathologist
Yevgen Chornenkyy, Monika Vyas, Vikram Deshpande
Histopathology.2025;[Epub] CrossRef
Multiple approaches revealed MGc80‐3 as a somatic hybrid with HeLa cells rather than a gastric cancer cell line
Fang Cao, Hao Sun, Zhenli Yang, Yanhua Bai, Xiao Hu, Yuhong Hou, Xiaocui Bian, Yuqin Liu
International Journal of Cancer.2024; 154(1): 155. CrossRef
In Response to p53 Immunohistochemical Staining and TP53 Gene Mutations in Endometrial Cancer: Does Null Pattern Correlate With Prognosis?
Ikuko Sakamoto, Keiko Kagami, Takahiro Nozaki, Yosuke Hirotsu, Kenji Amemiya, Toshio Oyama, Masao Omata
American Journal of Surgical Pathology.2024; 48(3): 374. CrossRef
CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function
Carolina Pires, Inês J. Marques, Mariana Valério, Ana Saramago, Paulo E. Santo, Sandra Santos, Margarida Silva, Margarida M. Moura, João Matos, Teresa Pereira, Rafael Cabrera, Diana Lousa, Valeriano Leite, Tiago M. Bandeiras, João B. Vicente, Branca M. Ca
Journal of Biological Chemistry.2024; 300(3): 105767. CrossRef
The spectrum of TP53 mutations in Rwandan patients with gastric cancer
Augustin Nzitakera, Jean Bosco Surwumwe, Ella Larissa Ndoricyimpaye, Schifra Uwamungu, Delphine Uwamariya, Felix Manirakiza, Marie Claire Ndayisaba, Gervais Ntakirutimana, Benoit Seminega, Vincent Dusabejambo, Eric Rutaganda, Placide Kamali, François Ngab
Genes and Environment.2024;[Epub] CrossRef
Gastric cancer molecular classification based on immunohistochemistry and in‐situ hybridisation and mortality
Maarit Eskuri, Eva‐Maria Birkman, Joonas H Kauppila
Histopathology.2024; 85(2): 327. CrossRef
Redefining aberrant P53 expression of gastric cancer and its distinct clinical significance among molecular-histologic subtypes
Shih-Chiang Huang, Ian Yi-Feng Chang, Tse-Ching Chen, Hsiao-Ching Lin, Chun-Yi Tsai, Jun-Te Hsu, Chun-Nan Yeh, Shih-Cheng Chang, Ta-Sen Yeh
Asian Journal of Surgery.2024; 47(11): 4699. CrossRef
Assessment of TP53 and CDKN2A status as predictive markers of malignant transformation of sinonasal inverted papilloma
Soohyeon Kwon, Jeong-Whun Kim, Eun Sun Kim, Jin Ho Paik, Jin-Haeng Chung, Sung-Woo Cho, Tae-Bin Won, Chae-Seo Rhee, Jee Hye Wee, Hyojin Kim
Scientific Reports.2024;[Epub] CrossRef
Implementing an integrated molecular classification for gastric cancer from endoscopic biopsies using on-slide tests
Simona Costache, Adelina Baltan , Sofia Diaz McLinn , Mattia Pegoraro , Rebecca de Havilland , Matthew Porter , Ana Lerga , Teresa Thomas , Alina Elena Chefani
Romanian Journal of Morphology and Embryology.2024; 65(2): 257. CrossRef
Application of NGS molecular classification in the diagnosis of endometrial carcinoma: A supplement to traditional pathological diagnosis
Qunxian Rao, Jianwei Liao, Yangyang Li, Xin Zhang, Guocai Xu, Changbin Zhu, Shengya Tian, Qiuhong Chen, Hui Zhou, Bingzhong Zhang
Cancer Medicine.2023; 12(5): 5409. CrossRef
Predictive value of p53 and AXL immunostaining for the efficacy of immune checkpoint inhibitor-based therapy after osimertinib treatment in patients with epidermal growth factor-mutant non-small cell lung cancer
Kenji Morimoto, Tadaaki Yamada, Ryo Sawada, Koichi Azuma, Yasuhiro Goto, Taishi Harada, Shinsuke Shiotsu, Nobuyo Tamiya, Yusuke Chihara, Takayuki Takeda, Osamu Hiranuma, Isao Hasegawa, Satomi Tanaka, Akihiro Yoshimura, Masahiro Iwasaku, Shinsaku Tokuda, Y
Cancer Immunology, Immunotherapy.2023; 72(6): 1699. CrossRef
Validation of p53 Immunohistochemistry (PAb240 Clone) in Canine Tumors with Next-Generation Sequencing (NGS) Analysis
Barbara Brunetti, Dario de Biase, Giulia Dellapina, Luisa Vera Muscatello, Francesco Ingravalle, Giorgia Tura, Barbara Bacci
Animals.2023; 13(5): 899. CrossRef
Mesonephric‐like adenocarcinoma of the female genital tract: novel observations and detailed molecular characterisation of mixed tumours and mesonephric‐like carcinosarcomas
Jelena Mirkovic, Ekaterina Olkhov‐Mitsel, Yutaka Amemiya, Maysa Al‐Hussaini, Sharon Nofech‐Mozes, Bojana Djordjevic, Rachel Kupets, Arun Seth, W Glenn McCluggage
Histopathology.2023; 82(7): 978. CrossRef
Clinicopathologic characterization of cervical metastasis from an unknown primary tumor: a multicenter study in Korea
Miseon Lee, Uiree Jo, Joon Seon Song, Youn Soo Lee, Chang Gok Woo, Dong-Hoon Kim, Jung Yeon Kim, Sun Och Yoon, Kyung-Ja Cho
Journal of Pathology and Translational Medicine.2023; 57(3): 166. CrossRef
P53 in Penile Squamous Cell Carcinoma: A Pattern-Based Immunohistochemical Framework with Molecular Correlation
Isabel Trias, Adela Saco, Lorena Marimon, Ricardo López del Campo, Carolina Manzotti, Oriol Ordi, Marta del Pino, Francisco M. Pérez, Naiara Vega, Silvia Alós, Antonio Martínez, Leonardo Rodriguez-Carunchio, Oscar Reig, Pedro Jares, Cristina Teixido, Tare
Cancers.2023; 15(10): 2719. CrossRef
p53/TP53 Status Assessment in Gastroesophageal Adenocarcinoma
Elisa Boldrin, Maria Assunta Piano, Francesco Bernaudo, Rita Alfieri, Maria Raffaella Biasin, Isabella Monia Montagner, Alice Volpato, Genny Mattara, Francesco Lamacchia, Giovanna Magni, Antonio Rosato, Antonio Scapinello, Pierluigi Pilati, Matteo Curtare
Cancers.2023; 15(10): 2783. CrossRef
Genomic profiling of dedifferentiated endometrial carcinomas arising in the background of high‐grade carcinoma: a targeted next‐generation sequencing study
Ekaterina Olkhov‐Mitsel, Aurelia Busca, Carlos Parra‐Herran, Yutaka Amemiya, Sharon Nofech‐Mozes, Bojana Djordjevic, Marisa R Nucci, Arun Seth, Jelena Mirkovic
Histopathology.2023; 83(3): 366. CrossRef
Clinicopathologic Features and Prognostic Significance of Immunohistochemistry and In Situ Hybridization Based Molecular Classification in Gastric Carcinoma
Gizem Issin, İlyas Sayar, Fatih Demir, İrem Güvendir Bakkaloğlu, Mehmet Gamsizkan, Zeliha Yildiz, Ismail Yilmaz, Sevilay Akalp Özmen, Diren Vuslat Çağatay, Itır Ebru Zemheri, Murat Demiriz, Armağan Günal
Journal of Environmental Pathology, Toxicology and Oncology.2023; 42(4): 1. CrossRef
Clinicopathologic and Molecular Characterization of Anorectal Neuroendocrine Carcinomas Reveals Human Papillomavirus, p53, and c-Myc as Alternative Mechanisms of Carcinogenesis
Allison J. Cox, William E. Crowe, Qi Yang, Bin Zhang, Zoltán N. Oltvai, Xiaoyan Liao
Modern Pathology.2023; 36(11): 100295. CrossRef
Dedifferentiated Endometrial Carcinoma: A Rare Aggressive Neoplasm-Clinical, Morphological and Immunohistochemical Features
Giovanna Giordano, Elena Ferioli, Debora Guareschi, Alessandro Tafuni
Cancers.2023; 15(21): 5155. CrossRef
Characterization on the oncogenic effect of the missense mutations of p53 via machine learning
Qisheng Pan, Stephanie Portelli, Thanh Binh Nguyen, David B Ascher
Briefings in Bioinformatics.2023;[Epub] CrossRef
Adrenal Nodules Detected at Staging CT in Patients with Resectable Gastric Cancers Have a Low Incidence of Malignancy
Hae Young Kim, Won Chang, Yoon Jin Lee, Ji Hoon Park, Jungheum Cho, Hee Young Na, Hyungwoo Ahn, Sung Il Hwang, Hak Jong Lee, Young Hoon Kim, Kyoung Ho Lee
Radiology.2022; 302(1): 129. CrossRef
Intestinal-type gastric dysplasia in Helicobacter pylori-naïve patients
Kotaro Shibagaki, Ayako Itawaki, Yoichi Miyaoka, Kenichi Kishimoto, Yusuke Takahashi, Satoshi Kotani, Tsuyoshi Mishiro, Naoki Oshima, Kousaku Kawashima, Norihisa Ishimura, Hideyuki Onuma, Makoto Nagasaki, Mamiko Nagase, Asuka Araki, Kyuichi Kadota, Ryoji
Virchows Archiv.2022; 480(4): 783. CrossRef
Dedifferentiation-like tubular and solid carcinoma of the stomach shows phenotypic divergence and association with deficient SWI/SNF complex
Shih-Chiang Huang, Kuang-Hua Chen, Kwai-Fong Ng, I-Chieh Lin, Yi-Chun Chao, Ta-Sen Yeh, Huei-Chieh Chuang, Tse-Ching Chen
Virchows Archiv.2022; 480(4): 771. CrossRef
Distinct molecular phenotype and the potential prognostic value of immune prognostic index and tumor infiltrating lymphocytes in hepatoid adenocarcinoma of stomach
Muxing Kang, Xiaojing Ma, Jifei Shi, Guofeng Chen, Xiaoli Jin, Jun Wang, Lele Lin, Zhiwei Wu, Kaibo Chen, Jinghong Xu, Pintong Huang, Jian Chen
Translational Oncology.2022; 19: 101380. CrossRef
Evaluation of Tumor DNA Sequencing Results in Patients with Gastric and Gastroesophageal Junction Adenocarcinoma Stratified by TP53 Mutation Status
Anthony C Wood, Yonghong Zhang, Qianxing Mo, Ling Cen, Jacques Fontaine, Sarah E Hoffe, Jessica Frakes, Sean P Dineen, Jose M Pimiento, Christine M Walko, Rutika Mehta
The Oncologist.2022; 27(4): 307. CrossRef
Comprehensive Clinical Analysis of Gallbladder Neuroendocrine Neoplasms: A Large-Volume Multicenter Study During One Decade
Yangyang Wang, Bingfeng Huang, Qihan Fu, Jianing Wang, Mao Ye, Manyi Hu, Kai Qu, Kai Liu, Xiao Hu, Shumei Wei, Ke Sun, Wenbo Xiao, Bo Zhang, Haijun Li, Jingsong Li, Qi Zhang, Tingbo Liang
Annals of Surgical Oncology.2022; 29(12): 7619. CrossRef
Expression of SASP, DNA Damage Response, and Cell Proliferation Factors in Early Gastric Neoplastic Lesions: Correlations and Clinical Significance
Li Liang, Yijie Chai, Fei Chai, Haijing Liu, Ningning Ma, Hong Zhang, Shuang Zhang, Lin Nong, Ting Li, Bo Zhang
Pathology and Oncology Research.2022;[Epub] CrossRef
Systems biology and OMIC data integration to understand gastrointestinal cancers
Iasmin Moreira Costa Bispo, Henry Paul Granger, Palloma Porto Almeida, Patricia Belini Nishiyama, Leandro Martins de Freitas
World Journal of Clinical Oncology.2022; 13(10): 762. CrossRef
MicroRNA-552 expression in colorectal cancer and its clinicopathological significance
Joon Im, Soo Kyung Nam, Hye Seung Lee
Journal of Pathology and Translational Medicine.2021; 55(2): 125. CrossRef
Different effects of p53 protein overexpression on the survival of gastric cancer patients according to Lauren histologic classification: a retrospective study
Ki Wook Kim, Nayoung Kim, Yonghoon Choi, Won Seok Kim, Hyuk Yoon, Cheol Min Shin, Young Soo Park, Dong Ho Lee, Young Suk Park, Sang-Hoon Ahn, Do Joong Park, Hyung-Ho Kim, Hye Seung Lee, Ji-Won Kim, Jin Won Kim, Keun-Wook Lee, Won Chang, Ji Hoon Park, Yoon
Gastric Cancer.2021; 24(4): 844. CrossRef
The association between the expression of nuclear Yes-associated protein 1 (YAP1) and p53 protein expression profile in breast cancer patients
Yoon Jin Cha, Dooreh Kim, Soong June Bae, Sung Gwe Ahn, Joon Jeong, Min Kyung Cho, Pill Sun Paik, Tae-Kyung Yoo, Woo-Chan Park, Chang Ik Yoon, Elda Tagliabue
PLOS ONE.2021; 16(5): e0250986. CrossRef

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

5,394 View
130 Download
2 Web of Science
2 Crossref

Abstract PDF

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.

Citations

Citations to this article as recorded by

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
Respiratory Medicine Case Reports.2024; 48: 102008. CrossRef
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
Disease Markers.2021; 2021: 1. CrossRef

Original Article

Molecular Screening of Small Biopsy Samples Using Next-Generation Sequencing in Korean Patients with Advanced Non-small Cell Lung Cancer: Korean Lung Cancer Consortium (KLCC-13-01): Bo Mi Ku, Mi Hwa Heo, Joo-Hang Kim, Byoung Chul Cho, Eun Kyung Cho, Young Joo Min, Ki Hyeong Lee, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Tae Jung Kim, Ho Yun Lee, Hojoong Kim, Kyung-Jong Lee, Myung-Ju Ahn; J Pathol Transl Med. 2018;52(3):148-156. Published online March 26, 2018; DOI: https://doi.org/10.4132/jptm.2018.03.12

8,671 View
309 Download
16 Web of Science
14 Crossref

Abstract PDF

Background
Non-small cell lung cancer (NSCLC) is a common type of cancer with poor prognosis. As individual cancers exhibit unique mutation patterns, identifying and characterizing gene mutations in NSCLC might help predict patient outcomes and guide treatment. The aim of this study was to evaluate the clinical adequacy of molecular testing using next-generation sequencing (NGS) for small biopsy samples and characterize the mutational landscape of Korean patients with advanced NSCLC.
Methods
DNA was extracted from small biopsy samples of 162 patients with advanced NSCLC. Targeted NGS of genomic alterations was conducted using Ion AmpliSeq Cancer Hotspot Panel v2.
Results
The median age of patients was 64 years (range, 32 to 83 years) and the majority had stage IV NSCLC at the time of cancer diagnosis (90%). Among the 162 patients, 161 patients (99.4%) had novel or hotspot mutations (range, 1 to 21 mutated genes). Mutations were found in 41 genes. Three of the most frequently mutated genes were TP53 (151, 93.2%), KDR (104, 64.2%), and epidermal growth factor receptor (EGFR; 69, 42.6%). We also observed coexistence of EGFR and other oncogene (such as KRAS, PIC3CA, PTEN, and STK11) mutations. Given that 69.6% (48/69) of EGFR mutant patients were treated with EGFR tyrosine kinase inhibitors, EGFR mutant status had higher prognostic ability in this study.
Conclusions
These results suggest that targeted NGS using small biopsy samples is feasible and allows for the detection of both common and rare mutations in NSCLC.

Citations

Citations to this article as recorded by

The clinical relevance of surgical specimens for RNA sequencing in lung cancer: a cohort study
Jung Seop Eom, Soo Han Kim, Kyungbin Kim, Ahrong Kim, Hyo Yeong Ahn, Jeongha Mok, Jeong Su Cho, Min Ki Lee, Ju Sun Song, Mi-Hyun Kim
Frontiers in Oncology.2024;[Epub] CrossRef
PTEN, PTENP1, microRNAs, and ceRNA Networks: Precision Targeting in Cancer Therapeutics
Glena Travis, Eileen M. McGowan, Ann M. Simpson, Deborah J. Marsh, Najah T. Nassif
Cancers.2023; 15(20): 4954. CrossRef
Worldwide Prevalence of Epidermal Growth Factor Receptor Mutations in Non-Small Cell Lung Cancer: A Meta-Analysis
Barbara Melosky, Kato Kambartel, Maik Häntschel, Margherita Bennetts, Dana J. Nickens, Julia Brinkmann, Antonin Kayser, Michael Moran, Federico Cappuzzo
Molecular Diagnosis & Therapy.2022; 26(1): 7. CrossRef
Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(5): 249. CrossRef
Suitability of transbronchial brushing cytology specimens for next‐generation sequencing in peripheral lung cancer
Naoki Furuya, Shingo Matsumoto, Kazutaka Kakinuma, Kei Morikawa, Takeo Inoue, Hisashi Saji, Koichi Goto, Masamichi Mineshita
Cancer Science.2021; 112(1): 380. CrossRef
KLHL38 involvement in non-small cell lung cancer progression via activation of the Akt signaling pathway
Yitong Xu, Chenglong Wang, Xizi Jiang, Yao Zhang, Hongbo Su, Jun Jiang, Hongjiu Ren, Xueshan Qiu
Cell Death & Disease.2021;[Epub] CrossRef
Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
Sunhee Chang, Hyo Sup Shim, Tae Jung Kim, Yoon-La Choi, Wan Seop Kim, Dong Hoon Shin, Lucia Kim, Heae Surng Park, Geon Kook Lee, Chang Hun Lee
Journal of Pathology and Translational Medicine.2021; 55(3): 181. CrossRef
Targeting non-small cell lung cancer: driver mutation beyond epidermal growth factor mutation and anaplastic lymphoma kinase fusion
Quincy S. Chu
Therapeutic Advances in Medical Oncology.2020;[Epub] CrossRef
Concomitant Mutations in EGFR 19Del/L858R Mutation and Their Association with Response to EGFR-TKIs in NSCLC Patients

Hengrui Liang, Caichen Li, Yi Zhao, Shen Zhao, Jun Huang, Xiuyu Cai, Bo Cheng, Shan Xiong, Jianfu Li, Wei Wang, Changbin Zhu, Weiwei Li, Jianxing He, Wenhua Liang
Cancer Management and Research.2020; Volume 12: 8653. CrossRef
Prognostic role of Rab27A and Rab27B expression in patients with non‐small cell lung carcinoma
Hyun Min Koh, Dae Hyun Song
Thoracic Cancer.2019; 10(2): 143. CrossRef
PD‐L1 expression in ROS1‐rearranged non‐small cell lung cancer: A study using simultaneous genotypic screening of EGFR, ALK, and ROS1
Jongmin Lee, Chan Kwon Park, Hyoung‐Kyu Yoon, Young Jo Sa, In Sook Woo, Hyo Rim Kim, Sue Youn Kim, Tae‐Jung Kim
Thoracic Cancer.2019; 10(1): 103. CrossRef
Targeted Next-Generation Sequencing Validates the Use of Diagnostic Biopsies as a Suitable Alternative to Resection Material for Mutation Screening in Colorectal Cancer
Hersh A. Ham-Karim, Henry Okuchukwu Ebili, Kirsty Manger, Wakkas Fadhil, Narmeen S. Ahmad, Susan D. Richman, Mohammad Ilyas
Molecular Diagnosis & Therapy.2019; 23(3): 383. CrossRef
Small lung tumor biopsy samples are feasible for high quality targeted next generation sequencing
Hidenori Kage, Shinji Kohsaka, Aya Shinozaki‐Ushiku, Yoshihisa Hiraishi, Jiro Sato, Kazuhiro Nagayama, Tetsuo Ushiku, Daiya Takai, Jun Nakajima, Kiyoshi Miyagawa, Hiroyuki Aburatani, Hiroyuki Mano, Takahide Nagase
Cancer Science.2019; 110(8): 2652. CrossRef
PTEN in Lung Cancer: Dealing with the Problem, Building on New Knowledge and Turning the Game Around
Anastasios Gkountakos, Giulia Sartori, Italia Falcone, Geny Piro, Ludovica Ciuffreda, Carmine Carbone, Giampaolo Tortora, Aldo Scarpa, Emilio Bria, Michele Milella, Rafael Rosell, Vincenzo Corbo, Sara Pilotto
Cancers.2019; 11(8): 1141. CrossRef

Review

Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives: Yoon Kyung Jeon, Sun Och Yoon, Jin Ho Paik, Young A Kim, Bong Kyung Shin, Hyun-Jung Kim, Hee Jeong Cha, Ji Eun Kim, Jooryung Huh, Young-Hyeh Ko; J Pathol Transl Med. 2017;51(3):224-241. Published online May 10, 2017; DOI: https://doi.org/10.4132/jptm.2017.04.09

17,846 View
682 Download
12 Web of Science
13 Crossref

Abstract PDF

Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative disease and those which will be implicated in clinical practice in the near future. Specifically, this guideline addresses the clonality test for B- and T-cell proliferative lesions, molecular cytogenetic tests for malignant lymphoma, determination of cell-of-origin in diffuse large B-cell lymphoma, and molecular genetic alterations incorporated in the 2016 revision of the World Health Organization classification of lymphoid neoplasms. Finally, a new perspective on the next-generation sequencing for diagnostic, prognostic, and therapeutic purpose in malignant lymphoma will be summarized.

Citations

Citations to this article as recorded by

Presence of minimal residual disease determined by next-generation sequencing is not a reliable prognostic biomarker in children with acute lymphoblastic leukemia
Elizabeta Krstevska Bozhinovikj, Nadica Matevska-Geshkovska, Marija Staninova Stojovska, Emilija Gjorgievska, Aleksandra Jovanovska, Nevenka Ridova, Irina Panovska Stavridis, Svetlana Kocheva, Aleksandar Dimovski
Leukemia & Lymphoma.2025; : 1. CrossRef
Haematogenous seeding in mycosis fungoides and Sézary syndrome: current evidence and clinical implications
Robert Gniadecki, Emmanuella Guenova, Christiane Querfeld, Jan P Nicolay, Julia Scarisbrick, Lubomir Sokol
British Journal of Dermatology.2025; 192(3): 381. CrossRef
Assessment of Bone Marrow Involvement in B‐Cell non‐Hodgkin Lymphoma Using Immunoglobulin Gene Rearrangement Analysis with Next‐Generation Sequencing
Min Ji Jeon, Eun Sang Yu, Dae Sik Kim, Chul Won Choi, Ha Nui Kim, Jung Ah Kwon, Soo‐Young Yoon, Jung Yoon
Journal of Clinical Laboratory Analysis.2024;[Epub] CrossRef
Thymus and lung mucosa-associated lymphoid tissue lymphoma with adenocarcinoma of the lung: a case report and literature review
Yu Pang, Daosheng Li, Yiqian Chen, Qinqin Liu, Yuheng Wu, Qingliang Teng, Yuyu Liu
World Journal of Surgical Oncology.2023;[Epub] CrossRef
Development and implementation of an automated and highly accurate reporting process for NGS-based clonality testing
Sean T. Glenn, Phillip M. Galbo, Jesse D. Luce, Kiersten Marie Miles, Prashant K. Singh, Manuel J. Glynias, Carl Morrison
Oncotarget.2023; 14(1): 450. CrossRef
A comparison of capillary electrophoresis and next-generation sequencing in the detection of immunoglobulin heavy chain H and light chain κ gene rearrangements in the diagnosis of classic hodgkin’s lymphoma
Juan-Juan Zhang, Yu-Xin Xie, Li-Lin Luo, Xuan-Tao Yang, Yi-Xing Wang, Yue Cao, Zheng-Bo Long, Wan-Pu Wang
Bioengineered.2022; 13(3): 5868. CrossRef
Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies
Jiwon Koh, Sun Ah Shin, Ji Ae Lee, Yoon Kyung Jeon
Journal of Pathology and Translational Medicine.2022; 56(4): 173. CrossRef
Diagnostic Workup of Primary Cutaneous B Cell Lymphomas: A Clinician's Approach
Giulia Tadiotto Cicogna, Martina Ferranti, Mauro Alaibac
Frontiers in Oncology.2020;[Epub] CrossRef
Kappa and lambda immunohistochemistry and in situ hybridization in the evaluation of atypical cutaneous lymphoid infiltrates
Alexandra C. Hristov, Nneka I. Comfere, Claudia I. Vidal, Uma Sundram
Journal of Cutaneous Pathology.2020; 47(11): 1103. CrossRef
Primary lung mucosa-associated lymphoid tissue lymphoma accompanied by multiple sclerosis
Ke-Ke Yu, Lei Zhu, Ji-Kai Zhao, Rui-Ying Zhao, Yu-Chen Han
Chinese Medical Journal.2019; 132(13): 1625. CrossRef
Diagnostic accuracy of SOX11 immunohistochemistry in mantle cell lymphoma: A meta-analysis
Woojoo Lee, Eun Shin, Bo-Hyung Kim, Hyunchul Kim, Riccardo Dolcetti
PLOS ONE.2019; 14(11): e0225096. CrossRef
Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T‐cell and B‐cell lymphoproliferative disorders
Nneka Comfere, Uma Sundram, Maria Yadira Hurley, Brian Swick
Journal of Cutaneous Pathology.2018; 45(1): 39. CrossRef
A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
Yuriy O. Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher, Nancy S. Miller, Daniel Remick
Academic Pathology.2018; 5: 2374289518766521. CrossRef

First
Prev
Page of 1
Next
Last

Search