Journal of Pathology and Translational Medicine

Original Article

Comparison of tissue-based and plasma-based testing for EGFR mutation in non–small cell lung cancer patients: Yoon Kyung Kang, Dong Hoon Shin, Joon Young Park, Chung Su Hwang, Hyun Jung Lee, Jung Hee Lee, Jee Yeon Kim, JooYoung Na; J Pathol Transl Med. 2025;59(1):60-67. Published online January 15, 2025; DOI: https://doi.org/10.4132/jptm.2024.10.01

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Abstract PDF: Background
Epidermal growth factor receptor (EGFR) gene mutation testing is crucial for the administration of tyrosine kinase inhibitors to treat non–small cell lung cancer. In addition to traditional tissue-based tests, liquid biopsies using plasma are increasingly utilized, particularly for detecting T790M mutations. This study compared tissue- and plasma-based EGFR testing methods.
Methods
A total of 248 patients were tested for EGFR mutations using tissue and plasma samples from 2018 to 2023 at Pusan National University Yangsan Hospital. Tissue tests were performed using PANAmutyper, and plasma tests were performed using the Cobas EGFR Mutation Test v2.
Results
All 248 patients underwent tissue-based EGFR testing, and 245 (98.8%) showed positive results. Of the 408 plasma tests, 237 (58.1%) were positive. For the T790M mutation, tissue biopsies were performed 87 times in 69 patients, and 30 positive cases (38.6%) were detected. Plasma testing for the T790M mutation was conducted 333 times in 207 patients, yielding 62 positive results (18.6%). Of these, 57 (27.5%) were confirmed to have the mutation via plasma testing. Combined tissue and plasma tests for the T790M mutation were positive in nine patients (13.4%), while 17 (25.4%) were positive in tissue only and 12 (17.9%) in plasma only. This mutation was not detected in 28 patients (43.3%).
Conclusions
Although the tissue- and plasma-based tests showed a sensitivity of 37.3% and 32.8%, respectively, combined testing increased the detection rate to 56.7%. Thus, neither test demonstrated superiority, rather, they were complementary.

Case Study

Primary testicular carcinoid tumor with marked lymphovascular invasion: Hyun Jung Lee, Joon Young Park, So Young Kim, Chung Su Hwang, Jung Hee Lee, Dong Hoon Shin, Jee Yeon Kim; J Pathol Transl Med. 2021;55(6):410-414. Published online October 20, 2021; DOI: https://doi.org/10.4132/jptm.2021.09.11

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Testicular carcinoid tumors are very rare, accounting for less than 1% of all testicular tumors. We report a rare case of a testicular carcinoid tumor with extensive lymphatic invasion. A 42-year-old man presented with a painless, enlarged right testicular mass. There was no history of injury or discomfort in this region. Right radical orchiectomy was performed, which showed a well-defined, non-encapsulated solid white mass with calcification (7.0 × 4.5 × 3.5 cm) and absence of cystic components. Microscopic examination using hematoxylin and eosin staining of the tumor sections identified organoid, trabecular, and solid patterns with rosette formation. Extensive multifocal lymphatic invasion was observed. Immunohistochemistry was positive for synaptophysin, chromogranin, and CD56. Testicular carcinoid tumors usually show good prognoses; however, there was extensive lymphovascular invasion in this case. Thus, in the case of unusual presentation of the disease, close follow-up is necessary.

Citations

Citations to this article as recorded by

Testicular Primary Well-Differentiated Neuroendocrine Tumor: Clinicopathologic, Immunohistochemical, and Molecular Characterization of Two Patients
Liwei Jia, Bo Zhang, Daniel Shen, Prasad R. Koduru
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Brief Case Reports

Gastric Langerhans Cell Histiocytosis: Case Report and Review of the Literature: So Jung Lee, Chung Su Hwang, Gi Young Huh, Chang Hun Lee, Do Youn Park; J Pathol Transl Med. 2015;49(5):421-423. Published online June 9, 2015; DOI: https://doi.org/10.4132/jptm.2015.05.19

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Citations

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Langerhans cell histiocytosis of the gastrointestinal tract
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A Ciliated Cyst with Müllerian Differentiation Arising in the Posterior Mediastinum: So Jung Lee, Chung Su Hwang, Do Youn Park, Gi Young Huh, Chang Hun Lee; Korean J Pathol. 2014;48(5):401-404. Published online October 27, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.5.401

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Case Study

Nodular Fasciitis of the Parotid Gland, Masquerading as Pleomorphic Adenoma: Chung Su Hwang, Chang Hun Lee, Ahrong Kim, Nari Shin, Won Young Park, Min Gyoung Park, Do Youn Park; Korean J Pathol. 2014;48(5):366-370. Published online October 27, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.5.366

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Abstract PDF

It is difficult to distinguish nodular fasciitis (NF) from other neoplasm of the parotid gland, especially pleomorphic adenoma (PA) by fine needle aspiration cytology. A 39-year-old female noticed a mass in the parotid region. The aspirate material showed cohesive parts composed of the cells that had oval or spindle-shaped nuclei and relatively abundant cytoplasm and some cells with plasmacytoid features. The background substance was fibromyxoid. PA was diagnosed based on the cytologic findings. Subsequently, parotidectomy was performed and NF was diagnosed based on histologic and immunohistochemical findings. NF in the parotid region is rare and may be misdiagnosed as other benign or malignant tumors of the parotid gland. The clinical history of rapid growth and the presence of mitoses and inflammatory cells help to distinguish NF from PA. In addition, immunohistochemical stains for smooth muscle actin and CD68 are useful to confirm the diagnosis of NF.

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