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.

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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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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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