Journal of Pathology and Translational Medicine

Case Study

EWSR1 rearranged primary renal myoepithelial carcinoma: a diagnostic conundrum: Nilay Nishith, Zachariah Chowdhury; J Pathol Transl Med. 2023;57(5):284-288. Published online September 15, 2023; DOI: https://doi.org/10.4132/jptm.2023.08.08

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Abstract PDF: Primary renal myoepithelial carcinoma is an exceedingly rare neoplasm with an aggressive phenotype and Ewing sarcoma breakpoint region 1 (EWSR1) rearrangement in a small fraction of cases. In addition to its rarity, the diagnosis can be challenging for the pathologist due to morphologic heterogeneity, particularly on the biopsy specimen. At times, immunohistochemistry may be indecisive; therefore, molecular studies should be undertaken for clinching the diagnosis. We aim to illustrate a case of primary myoepithelial carcinoma of the kidney with EWSR1-rearrangement in a 67-year-old male patient who presented with right supraclavicular mass, which was clinically diagnosed as carcinoma of an unknown primary. An elaborate immunohistochemical work-up aided by fluorescent in-situ hybridization allowed us to reach a conclusive diagnosis. This unusual case report advocates that one should be aware of the histological mimickers and begin with broad differential diagnoses alongside sporadic ones and then narrow them down with appropriate ancillary studies.

Review

Guideline Recommendations for Testing of ALK Gene Rearrangement in Lung Cancer: A Proposal of the Korean Cardiopulmonary Pathology Study Group: Hyojin Kim, Hyo Sup Shim, Lucia Kim, Tae-Jung Kim, Kun Young Kwon, Geon Kook Lee, Jin-Haeng Chung; Korean J Pathol. 2014;48(1):1-9. Published online February 25, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.1.1

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Rearrangement of anaplastic lymphoma kinase (ALK) gene is the best predictor of response to crizotinib, an ALK tyrosine kinase inhibitor. However, the prevalence of the ALK fusion is low, so accurate patient identification is crucial for successful treatment using ALK inhibitors. Furthermore, most patients with lung cancer present with advanced-stage disease at the time of diagnosis, so it is important for pathologists to detect ALK-rearranged patients while effectively maximizing small biopsy or cytology specimens. In this review, we propose a guideline recommendation for ALK testing approved by the Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists.

Citations

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Cancers.2022; 14(20): 5113. CrossRef
ALK Translocation in ALK-Positive Mesenchymal Tumors: Diagnostic and Therapeutic Insights
Minsun Jung, Kyung Chul Moon, Jeongmo Bae, Tae Min Kim, Miso Kim, Yoon Kyung Jeon, Cheol Lee
Archives of Pathology & Laboratory Medicine.2022; 146(12): 1460. CrossRef
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OncoTargets and Therapy.2021; Volume 14: 4671. CrossRef
Molecular testing for advanced non-small cell lung cancer in Malaysia: Consensus statement from the College of Pathologists, Academy of Medicine Malaysia, the Malaysian Thoracic Society, and the Malaysian Oncological Society
Pathmanathan Rajadurai, Phaik Leng Cheah, Soon Hin How, Chong Kin Liam, Muhammad Azrif Ahmad Annuar, Norhayati Omar, Noriah Othman, Nurhayati Mohd Marzuki, Yong Kek Pang, Ros Suzanna Ahmad Bustamam, Lye Mun Tho
Lung Cancer.2019; 136: 65. CrossRef
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors
Neal I. Lindeman, Philip T. Cagle, Dara L. Aisner, Maria E. Arcila, Mary Beth Beasley, Eric H. Bernicker, Carol Colasacco, Sanja Dacic, Fred R. Hirsch, Keith Kerr, David J. Kwiatkowski, Marc Ladanyi, Jan A. Nowak, Lynette Sholl, Robyn Temple-Smolkin, Benj
Journal of Thoracic Oncology.2018; 13(3): 323. CrossRef
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors
Neal I. Lindeman, Philip T. Cagle, Dara L. Aisner, Maria E. Arcila, Mary Beth Beasley, Eric H. Bernicker, Carol Colasacco, Sanja Dacic, Fred R. Hirsch, Keith Kerr, David J. Kwiatkowski, Marc Ladanyi, Jan A. Nowak, Lynette Sholl, Robyn Temple-Smolkin, Benj
The Journal of Molecular Diagnostics.2018; 20(2): 129. CrossRef
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Archives of Pathology & Laboratory Medicine.2018; 142(3): 321. CrossRef
5′/ 3′ imbalance strategy to detect ALK fusion genes in circulating tumor RNA from patients with non-small cell lung cancer
Yongqing Tong, Zhijun Zhao, Bei Liu, Anyu Bao, Hongyun Zheng, Jian Gu, Mary McGrath, Ying Xia, Bihua Tan, Chunhua Song, Yan Li
Journal of Experimental & Clinical Cancer Research.2018;[Epub] CrossRef
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Dae Ho Lee, Ming-Sound Tsao, Karl-Otto Kambartel, Hiroshi Isobe, Ming-Shyan Huang, Carlos H. Barrios, Adnan Khattak, Filippo de Marinis, Smita Kothari, Ashwini Arunachalam, Xiting Cao, Thomas Burke, Amparo Valladares, Javier de Castro, Aamir Ahmad
PLOS ONE.2018; 13(8): e0202865. CrossRef
Microfluidics-based immunofluorescence for fast staining of ALK in lung adenocarcinoma
Saška Brajkovic, Benjamin Pelz, Maria-Giuseppina Procopio, Anne-Laure Leblond, Grégoire Repond, Ariane Schaub-Clerigué, Diego G Dupouy, Alex Soltermann
Diagnostic Pathology.2018;[Epub] CrossRef
Expanded Circulating Tumor Cells from a Patient with ALK- Positive Lung Cancer Present with EML4-ALK Rearrangement Along with Resistance Mutation and Enable Drug Sensitivity Testing: A Case Study
Zhuo Zhang, Hiroe Shiratsuchi, Nallasivam Palanisamy, Sunitha Nagrath, Nithya Ramnath
Journal of Thoracic Oncology.2017; 12(2): 397. CrossRef
Molecular Testing of Lung Cancers
Hyo Sup Shim, Yoon-La Choi, Lucia Kim, Sunhee Chang, Wan-Seop Kim, Mee Sook Roh, Tae-Jung Kim, Seung Yeon Ha, Jin-Haeng Chung, Se Jin Jang, Geon Kook Lee
Journal of Pathology and Translational Medicine.2017; 51(3): 242. CrossRef
Novel ALK fusion partners in lung cancer
Aglaya G. Iyevleva, Grigory A. Raskin, Vladislav I. Tiurin, Anna P. Sokolenko, Natalia V. Mitiushkina, Svetlana N. Aleksakhina, Aigul R. Garifullina, Tatiana N. Strelkova, Valery O. Merkulov, Alexandr O. Ivantsov, Ekatherina Sh. Kuligina, Kazimir M. Pozha
Cancer Letters.2015; 362(1): 116. CrossRef
Strategic management of transthoracic needle aspirates for histological subtyping and EGFR testing in patients with peripheral lung cancer: An institutional experience
Choonhee Son, Eun‐Ju Kang, Mee Sook Roh
Diagnostic Cytopathology.2015; 43(7): 532. CrossRef
Current and future molecular diagnostics in non-small-cell lung cancer
Chun Man Li, Wing Ying Chu, Di Lun Wong, Hin Fung Tsang, Nancy Bo Yin Tsui, Charles Ming Lok Chan, Vivian Wei Wen Xue, Parco Ming Fai Siu, Benjamin Yat Ming Yung, Lawrence Wing Chi Chan, Sze Chuen Cesar Wong
Expert Review of Molecular Diagnostics.2015; 15(8): 1061. CrossRef
Role of biopsy sampling for diagnosis of early and progressed hepatocellular carcinoma
Haeryoung Kim, Young Nyun Park
Best Practice & Research Clinical Gastroenterology.2014; 28(5): 813. CrossRef
Molecular Pathology of Lung Cancer: Current Status and Future Directions
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BMC Cancer.2014;[Epub] CrossRef

Original Article

Diagnostic Utility of a Clonality Test for Lymphoproliferative Diseases in Koreans Using the BIOMED-2 PCR Assay: Young Kim, Yoo Duk Choi, Chan Choi, Jong-Hee Nam; Korean J Pathol. 2013;47(5):458-465. Published online October 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.5.458

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Abstract PDF

Background

A clonality test for immunoglobulin (IG) and T cell receptor (TCR) is a useful adjunctive method for the diagnosis of lymphoproliferative diseases (LPDs). Recently, the BIOMED-2 multiplex polymerase chain reaction (PCR) assay has been established as a standard method for assessing the clonality of LPDs. We tested clonality in LPDs in Koreans using the BIOMED-2 multiplex PCR and compared the results with those obtained in European, Taiwanese, and Thai participants. We also evaluated the usefulness of the test as an ancillary method for diagnosing LPDs.

Methods

Two hundred and nineteen specimens embedded in paraffin, including 78 B cell lymphomas, 80 T cell lymphomas and 61 cases of reactive lymphadenitis, were used for the clonality test.

Results

Mature B cell malignancies showed 95.7% clonality for IG, 2.9% co-existing clonality, and 4.3% polyclonality. Mature T cell malignancies exhibited 83.8% clonality for TCR, 8.1% co-existing clonality, and 16.2% polyclonality. Reactive lymphadenitis showed 93.4% polyclonality for IG and TCR. The majority of our results were similar to those obtained in Europeans. However, the clonality for IGK of B cell malignancies and TCRG of T cell malignancies was lower in Koreans than Europeans.

Conclusions

The BIOMED-2 multiplex PCR assay was a useful adjunctive method for diagnosing LPDs.

Citations

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Biomédica.2022; 42(Sp. 1): 64. CrossRef
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Pathology.2021; 53(2): 157. CrossRef
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Takashi Kido, Hiroshi Ishimoto, Hiroshi Ishii, Kanako Hara, Mutsumi Ozasa, Hiroki Kawabata, Toshinori Kawanami, Yu Suzuki, Hiroki Yoshikawa, Atsuko Hara, Noriho Sakamoto, Nobuhiro Matsumoto, Chiharu Yoshii, Junya Fukuoka, Masaki Fujita, Masamitsu Nakazato
Scientific Reports.2021;[Epub] CrossRef
Differentiation of lymphocytic‐plasmacytic enteropathy and small cell lymphoma in cats using histology‐guided mass spectrometry
Sina Marsilio, Shelley J. Newman, James Scot Estep, Paula R. Giaretta, Jonathan A. Lidbury, Emma Warry, Andi Flory, Paul S. Morley, Katy Smoot, Erin H. Seeley, Matthew J. Powell, Jan S. Suchodolski, Jörg M. Steiner
Journal of Veterinary Internal Medicine.2020; 34(2): 669. CrossRef
T-Cell Receptor Rearrangements Determined Using Fragment Analysis in Patients With T-Acute Lymphoblastic Leukemia
Hyerim Kim, In-Suk Kim, Chulhun L. Chang, Sun-Young Kong, Young Tak Lim, Seom Gim Kong, Eun Hae Cho, Eun-Yup Lee, Ho-Jin Shin, Hyeon Jin Park, Hyeon-Seok Eom, Hyewon Lee
Annals of Laboratory Medicine.2019; 39(2): 125. CrossRef
Monitoring immunoglobulin heavy chain and T‑cell receptor gene rearrangement in cfDNA as minimal residual disease detection for patients with acute myeloid leukemia
Ling Zhong, Jiao Chen, Xiaobing Huang, Yanxing Li, Tao Jiang
Oncology Letters.2018;[Epub] CrossRef
Molecular pathology diagnosis of diffuse large B cell lymphoma using BIOMED-2 clonal gene rearrangements
Saeid Ghorbian
Annals of Diagnostic Pathology.2017; 29: 28. CrossRef
Improved clonality detection in B‐cell lymphoma using a semi‐nested modification of the BIOMED‐2 PCR assay for IGH rearrangement: A paraffin‐embedded tissue study
Yuma Sakamoto, Ayako Masaki, Satsuki Aoyama, Shusen Han, Kosuke Saida, Kana Fujii, Hisashi Takino, Takayuki Murase, Shinsuke Iida, Hiroshi Inagaki
Pathology International.2017; 67(9): 453. CrossRef
The prognostic significance of monoclonal immunoglobulin gene rearrangement in conjunction with histologic B‐cell aggregates in the bone marrow of patients with diffuse large B‐cell lymphoma
Yoon Ah Cho, Woo Ick Yang, Jae‐Woo Song, Yoo Hong Min, Sun Och Yoon
Cancer Medicine.2016; 5(6): 1066. CrossRef
Nasal-type NK/T-cell lymphomas are more frequently T rather than NK lineage based on T-cell receptor gene, RNA, and protein studies: lineage does not predict clinical behavior
Mineui Hong, Taehee Lee, So Young Kang, Suk-Jin Kim, Wonseog Kim, Young-Hyeh Ko
Modern Pathology.2016; 29(5): 430. CrossRef
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Xiaojing Zhang, Yuanyuan Zheng, Jianlan Xie, Jun Zhu, Yuqin Song, Xiaojing Teng, Wei Liu, Yi Ding, Yuhua Huang, Xiaoge Zhou
American Journal of Surgical Pathology.2015; 39(11): 1493. CrossRef
Evaluation diagnostic usefulness of immunoglobulin light chains (Igκ, Igλ) and incomplete IGH D-J clonal gene rearrangements in patients with B-cell non-Hodgkin lymphomas using BIOMED-2 protocol
S. Ghorbian, I. Jahanzad, G. R. Javadi, E. Sakhinia
Clinical and Translational Oncology.2014; 16(11): 1006. CrossRef

Case Report

A Case of Malignant Lymphoma Misdiagnosed as Focal Lymphoid Hyperplasia in the Esophagus.: Sook Keum Chung, Young Hyeh Ko, Chan Keum Park, Jung Dal Lee; Korean J Pathol. 1995;29(3):393-398.

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Abstract PDF: Esophageal involvement by malignant lymphoma is extremely rare. A case of follicular lymphoma of the esophagus, misdiagnosed as focal lymphoid hyperplasia (pseudolymphoma) in a 72-year-old man is presented. The esophagogram revealed diffuse narrowing of the lumen in the middle and distal portion without ulceration. The resected esophagus showed mural thickening without any remarkable mucosal change. Microscopically, the esophagus showed scattered follicular lymphoid aggregates in the submucosa, extending into periadventitial fat tissue. Most follicles were devoid of germinal center and consisted of loosely aggregated small cleaved cells without atypia. The surrounding stroma of the submucosa showed dense fibrosis entrapping the infiltrating small lymphocytes in a "indian-file" appearance. There were some reactive follicles with germinal center. In the lamina propria, many plasma cells and a few eosinophils were infiltrated. The gene rearrangement study showed rearranged band for Jk probe which confirmed monoclonal B-cell nature of infiltrated small lymphoid cells. The small cleaved lymphocytes arranged in follicles were positive for L26 and bcl-2 protein. This case demonstrated the necessity of immunophenotypic and gene rearrangement study in the diagnosis of pseudolymphoma in the digestive tract.

Original Article

Application of Gene Rearrangement Analysis for Diagnosis of Malignant Lymphoma.: Kyung Soo Kim, Chan Choi; Korean J Pathol. 1995;29(4):415-422.

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Abstract PDF: To evaluate the utility of gene rearrangement analysis, eight cases of malignant lymphoma, one case of Hodgkin's disease, two cases of angioiminunoblastic lymphadenopathy (AILD) and two cases of non-specific lymphadenitis were studied by immunohistochemical and genetic analysis. Southern blot analysis was perfon-ned by a using vacuum transfer system and a biotin labelled probe. This method was faster, safer, and more convenient than conventional methods. Gene rearrangement study showed rearranged novel bands in five of six cases of B cell lymphoma, in all cases of T cell lymphoma, and in all cases of AILD. No rearrangement of the B cell receptor(BCR) or of the T cell receptor(TCR) was seen in Hodgkin's disease or in nonspecific lymphadenitis. These results suggest that gene rearrangement analysis of BCR and TCR is a recommended method for the diagnosis of clonality in lymphoproliferative disorders. It would allow pathologists to differentiate lymphoma from polyclonal lymphoid proliferation and to provide information for cell lineage.

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