Journal of Pathology and Translational Medicine

Original Articles

Single-center study on clinicopathological and typical molecular pathologic features of metastatic brain tumor: Su Hwa Kim, Young Suk Lee, Sung Hak Lee, Yeoun Eun Sung, Ahwon Lee, Jun Kang, Jae-Sung Park, Sin Soo Jeun, Youn Soo Lee; J Pathol Transl Med. 2023;57(4):217-231. Published online July 11, 2023; DOI: https://doi.org/10.4132/jptm.2023.06.10

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Abstract PDF: Background
The metastatic brain tumor is the most common brain tumor. The aim of this study was to demonstrate the clinicopathological and molecular pathologic features of brain metastases (BM).
Methods
A total of 269 patients were diagnosed with BM through surgical resection at Seoul St. Mary’s Hospital from January 2010 to March 2020. We reviewed the clinicopathological features and molecular status of primary and metastatic brain tissues using immunohistochemistry and molecular pathology results.
Results
Among 269 patients, 139 males and 130 females were included. The median age of primary tumor was 58 years (range, 13 to 87 years) and 86 patients (32.0%) had BM at initial presentation. Median BM free interval was 28.0 months (range, 1 to 286 months). The most frequent primary site was lung 46.5% (125/269), and followed by breast 15.6% (42/269), colorectum 10.0% (27/269). Epidermal growth factor receptor (EGFR) mutation was found in 50.8% (32/63) and 58.0% (40/69) of lung primary and BM, respectively. In both breast primary and breast cancer with BM, luminal B was the most frequent subtype at 37.9% (11/29) and 42.9% (18/42), respectively, followed by human epidermal growth factor receptor 2 with 31.0% (9/29) and 33.3% (14/42). Triple-negative was 20.7% (6/29) and 16.7% (7/42), and luminal A was 10.3% (3/29) and 7.1% (3/42) of breast primary and BM, respectively. In colorectal primary and colorectal cancer with BM, KRAS mutation was found in 76.9% (10/13) and 66.7% (2/3), respectively.
Conclusions
We report the clinicopathological and molecular pathologic features of BM that can provide useful information for understanding the pathogenesis of metastasis and for clinical trials based on the tumor’s molecular pathology.

Peripheral type squamous cell carcinoma of the lung: clinicopathologic characteristics in comparison to the central type: Yeoun Eun Sung, Uiju Cho, Kyo Young Lee; J Pathol Transl Med. 2020;54(4):290-299. Published online June 17, 2020; DOI: https://doi.org/10.4132/jptm.2020.05.04

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12 Crossref

Background
Squamous cell carcinomas (SqCCs) of the lung are known to arise more often in a central area but reports of peripheral SqCCs have increased, with a pathogenesis that is obscured. In this study, the clinicopathologic characteristics of peripheral lung SqCCs were studied and compared with those of the central type.
Methods
This study included 63 peripheral lung SqCCs and 48 randomly selected central cases; hematoxylin and eosin-stained slides of surgically resected specimens were reviewed in conjunction with radiologic images and clinical history. Cytokeratin-7 immunohistochemical staining of key slides and epidermal growth factor receptor (EGFR)/KRAS mutations tested by DNA sequencing were also included.
Results
Stages of peripheral SqCCs were significantly lower than central SqCCs (p=.016). Cystic change of the mass (p=.007), presence of interstitial fibrosis (p=0.007), and anthracosis (p=.049) in the background lung were significantly associated with the peripheral type. Cytokeratin-7 positivity was also higher in peripheral SqCCs with cutoffs of both 10% and 50% (p=.011). Pathogenic mutations in EGFR and KRAS were observed in only one case out of the 72 evaluated. The Cox proportional hazard model indicated a significantly better disease-free survival (p=.009) and the tendency of better overall survival (p=.106) in the peripheral type.
Conclusions
In peripheral type, lower stage is a favorable factor for survival but more frequent interstitial fibrosis and older age are unfavorable factors. Multivariate Cox analysis revealed that peripheral type is associated with better disease-free survival. The pathogenesis of peripheral lung SqCCs needs further investigation, together with consideration of the background lung conditions.

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Case Studies

Erdheim-Chester Disease Involving Lymph Nodes and Liver Clinically Mimicking Lymphoma: A Case Report: Yeoun Eun Sung, Yoon Seo Lee, Jieun Lee, Kyo Young Lee; J Pathol Transl Med. 2018;52(3):183-190. Published online December 27, 2017; DOI: https://doi.org/10.4132/jptm.2017.10.16

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Abstract PDF

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis and multisystem disease. First described in 1930, there are no more than 750 cases reported. The etiology remains unknown, but a majority of cases of ECD and Langerhans cell histiocytosis were found to have clonal mutations involving genes of the mitogen-activated protein kinase pathway. We recently encountered a 53-year-old male patient with extensive ECD involving the systemic lymph nodes, pleura, liver, and long bones clinically mimicking malignant lymphoma. Biopsies were performed at multiple sites, including a pleural mass, an external iliac lymph node, bone marrow, and the liver. Based on histopathological and immunohistochemical findings of positivity for CD68 and negativity for CD1a and S-100, the patient was diagnosed with ECD. Interferon-α was administered as the first-line treatment, but the patient rapidly progressed to hepatic failure after 2 months of treatment. We report this rare case of ECD clinically mimicking malignant lymphoma and diagnosed by careful pathological review.

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Erdheim‐Chester disease with long‐standing diabetes insipidus and generalized edema
Faezeh Sadat Naji, Minoo Sadat Hajmiri, Zahra Mazari, Faeze Salahshour, Vahid Soleimani, Manouchehr Nakhjavani, Mahboobeh Hemmatabadi
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Morbus Erdheim-Chester
J. Knitza, E. Kampylafka, J. Wacker, G. Schett, B. Manger
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Kevin C.J. Yuen, Vera Popovic, Peter J. Trainer
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Primary Necrobiotic Xanthogranulomatous Sialadenitis with Submandibular Gland Localization without Skin Involvement
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A Rare Case of Angioleiomyoma Arising in the Subglottic Area to Upper Trachea of a Patient with Underlying Asthma: Yeoun Eun Sung, Chin Kook Rhee, Kyo Young Lee; J Pathol Transl Med. 2017;51(1):92-95. Published online August 22, 2016; DOI: https://doi.org/10.4132/jptm.2016.06.21

7,977 View
111 Download
4 Web of Science
3 Crossref

Abstract PDF

Angioleiomyoma is a rare disease that is histologically characterized by smooth muscle cells arranged around vascular spaces. Although angioleiomyomas occur rarely in the head and neck region, they can cause various symptoms according the site involved. Here, we present a 44-yearold male patient with a 15-year history of asthma, who presented with recent onset of chest discomfort, globus sensation and throat pain. Medication was not effective in relieving his symptoms, and further evaluation revealed a polypoid ovoid mass, almost obstructing the airway at the border of the larynx and upper trachea on chest computed tomography. The mass was completely resected via a rigid bronchoscopy procedure. Histopathologic examination revealed that the excised mass was angioleiomyoma, which was immunohistochemically positive for smooth muscle actin and negative for desmin.

Citations

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Angioleiomyoma of the Epiglottis Mimicking Epiglottic Hemangioma: Clinical Experience and Literature Review
Yang-Yang Bao, Xiao-Jie Shi, Li-Bo Dai, Yu Guo, Hong-Tian Yao, Shui-Hong Zhou
Ear, Nose & Throat Journal.2022; : 014556132211000. CrossRef
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