1.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
Journal of Pathology and Translational Medicine 2020;54(1):119-122
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.
2.Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma
In Hye SONG ; Bokyung AHN ; Young Soo PARK ; Deok Hoon KIM ; Seung-Mo HONG
Cancer Research and Treatment 2025;57(2):492-506
Purpose:
Neuroendocrine carcinomas (NECs) of the stomach are extremely rare, but fatal. However, our understanding of the genetic alterations in gastric NECs is limited. We aimed to evaluate genomic and clinicopathological characteristics of gastric NECs and mixed adenoneuroendocrine carcinomas (MANECs).
Materials and Methods:
Fourteen gastric NECs, three gastric MANECs, and 1,381 gastric adenocarcinomas were retrieved from the departmental next-generation sequencing database between 2017 and 2022. Clinicopathological parameters and next-generation sequencing test results were retrospectively collected and reviewed.
Results:
Gastric NECs and MANECs frequently harbored alterations of TP53, RB1, SMARCA4, RICTOR, APC, TOP1, SLX4, EGFR, BRCA2, and TERT. In contrast, gastric adenocarcinomas exhibited alterations of TP53, CDH1, LRP1B, ARID1A, ERBB2, GNAS, CCNE1, NOTCH, and MYC. Mutations of AKT3, RB1, and SLX4; amplification of BRCA2 and RICTOR; and deletion of ADAMTS18, DDX11, KLRC3, KRAS, MAX, NFKBIA, NUDT7, and RB1 were significantly more frequent in gastric NECs and MANECs than in gastric adenocarcinomas. The presence of LRP1B mutation was significantly associated with longer overall survival (OS), whereas RB1 mutation and advanced TNM stage were associated with shorter OS.
Conclusion
We identified frequently mutated genes and potential predictors of survival in patients with gastric NECs and MANECs.
3.Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma
In Hye SONG ; Bokyung AHN ; Young Soo PARK ; Deok Hoon KIM ; Seung-Mo HONG
Cancer Research and Treatment 2025;57(2):492-506
Purpose:
Neuroendocrine carcinomas (NECs) of the stomach are extremely rare, but fatal. However, our understanding of the genetic alterations in gastric NECs is limited. We aimed to evaluate genomic and clinicopathological characteristics of gastric NECs and mixed adenoneuroendocrine carcinomas (MANECs).
Materials and Methods:
Fourteen gastric NECs, three gastric MANECs, and 1,381 gastric adenocarcinomas were retrieved from the departmental next-generation sequencing database between 2017 and 2022. Clinicopathological parameters and next-generation sequencing test results were retrospectively collected and reviewed.
Results:
Gastric NECs and MANECs frequently harbored alterations of TP53, RB1, SMARCA4, RICTOR, APC, TOP1, SLX4, EGFR, BRCA2, and TERT. In contrast, gastric adenocarcinomas exhibited alterations of TP53, CDH1, LRP1B, ARID1A, ERBB2, GNAS, CCNE1, NOTCH, and MYC. Mutations of AKT3, RB1, and SLX4; amplification of BRCA2 and RICTOR; and deletion of ADAMTS18, DDX11, KLRC3, KRAS, MAX, NFKBIA, NUDT7, and RB1 were significantly more frequent in gastric NECs and MANECs than in gastric adenocarcinomas. The presence of LRP1B mutation was significantly associated with longer overall survival (OS), whereas RB1 mutation and advanced TNM stage were associated with shorter OS.
Conclusion
We identified frequently mutated genes and potential predictors of survival in patients with gastric NECs and MANECs.
4.Presence of RB1 or Absence of LRP1B Mutation Predicts Poor Overall Survival in Patients with Gastric Neuroendocrine Carcinoma and Mixed Adenoneuroendocrine Carcinoma
In Hye SONG ; Bokyung AHN ; Young Soo PARK ; Deok Hoon KIM ; Seung-Mo HONG
Cancer Research and Treatment 2025;57(2):492-506
Purpose:
Neuroendocrine carcinomas (NECs) of the stomach are extremely rare, but fatal. However, our understanding of the genetic alterations in gastric NECs is limited. We aimed to evaluate genomic and clinicopathological characteristics of gastric NECs and mixed adenoneuroendocrine carcinomas (MANECs).
Materials and Methods:
Fourteen gastric NECs, three gastric MANECs, and 1,381 gastric adenocarcinomas were retrieved from the departmental next-generation sequencing database between 2017 and 2022. Clinicopathological parameters and next-generation sequencing test results were retrospectively collected and reviewed.
Results:
Gastric NECs and MANECs frequently harbored alterations of TP53, RB1, SMARCA4, RICTOR, APC, TOP1, SLX4, EGFR, BRCA2, and TERT. In contrast, gastric adenocarcinomas exhibited alterations of TP53, CDH1, LRP1B, ARID1A, ERBB2, GNAS, CCNE1, NOTCH, and MYC. Mutations of AKT3, RB1, and SLX4; amplification of BRCA2 and RICTOR; and deletion of ADAMTS18, DDX11, KLRC3, KRAS, MAX, NFKBIA, NUDT7, and RB1 were significantly more frequent in gastric NECs and MANECs than in gastric adenocarcinomas. The presence of LRP1B mutation was significantly associated with longer overall survival (OS), whereas RB1 mutation and advanced TNM stage were associated with shorter OS.
Conclusion
We identified frequently mutated genes and potential predictors of survival in patients with gastric NECs and MANECs.
5.A Case of Glomus Tumor Mimicking Neuroendocrine Tumor on 68 Ga-DOTATOC PET/CT
Koeun LEE ; Bokyung AHN ; Seung-Mo HONG ; Ji Yong AHN ; Chung Sik GONG ; Jin-Sook RYU
Nuclear Medicine and Molecular Imaging 2021;55(6):315-319
68 Ga-DOTA-peptide PET/CT is a valuable tool for diagnosing neuroendocrine tumors (NET). Various tumors and normal human tissue express the somatostatin receptor (SSTR), warranting attention to positive findings on 68 Ga-DOTA-peptide PET/CT. However, overexpression of SSTR in glomus tumors has not yet been reported. Gastric glomus tumors show many similar features of NET and are often misdiagnosed. We present the case of a 61-year-old male with a glomus tumor who underwent distal gastrectomy under the pretense of an NET grade 1 because the nodule showed focal intense uptake on preoperative 68 Ga-DOTATOC PET/CT.
6.Comparison of the Mismatch Repair System between Primary and Metastatic Colorectal Cancers Using Immunohistochemistry.
Jiyoon JUNG ; Youngjin KANG ; Yoo Jin LEE ; Eojin KIM ; Bokyung AHN ; Eunjung LEE ; Joo Young KIM ; Jeong Hyeon LEE ; Youngseok LEE ; Chul Hwan KIM ; Yang Seok CHAE
Journal of Pathology and Translational Medicine 2017;51(2):129-136
BACKGROUND: Colorectal cancer (CRC) is one of the most common malignancies worldwide. Approximately 10%–15% of the CRC cases have defective DNA mismatch repair (MMR) genes. Although the high level of microsatellite instability status is a predictor of favorable outcome in primary CRC, little is known about its frequency and importance in secondary CRC. Immunohistochemical staining (IHC) for MMR proteins (e.g., MLH1, MSH2, MSH6, and PMS2) has emerged as a useful technique to complement polymerase chain reaction (PCR) analyses. METHODS: In this study, comparison between the MMR system of primary CRCs and paired liver and lung metastatic lesions was done using IHC and the correlation with clinical outcomes was also examined. RESULTS: Based on IHC, 7/61 primary tumors (11.4%) showed deficient MMR systems, while 13/61 secondary tumors (21.3%) showed deficiencies. In total, 44 cases showed proficient expression in both the primary and metastatic lesions. Three cases showed deficiencies in both the primary and paired metastatic lesions. In 10 cases, proficient expression was found only in the primary lesions, and not in the corresponding metastatic lesions. In four cases, proficient expression was detected in the secondary tumor, but not in the primary tumor. CONCLUSIONS: Although each IHC result and the likely defective genes were not exactly matched between the primary and the metastatic tumors, identical results for primary and metastatic lesions were obtained in 77% of the cases (47/61). These data are in agreement with the previous microsatellite detection studies that used PCR and IHC.
7.Phalangeal and Metacarpal Metastases from Clear Cell Sarcoma of the Kidney: A Case Report.
Chan Kyo KIM ; Joong Mo AHN ; Eung Yeop KIM ; Hye Kyung YOON ; Bokyung Kim HAN ; Sung Moon KIM ; Jong Sup SHIM
Journal of the Korean Radiological Society 1998;39(6):1233-1235
Clear cell sarcoma of the kidney(CCSK) is rare, and was previously thought to be a variant of Wilms' tumor. Incontrast to patients with Wilms' tumor, bone metastasis is common in patients with CCSK, in which because of itsskeletal metastasis, prognosis is worse. We describe the radiographic, MR imaging, and bone scintigraphy findings,and include a review of the literature.
Humans
;
Kidney*
;
Magnetic Resonance Imaging
;
Neoplasm Metastasis*
;
Prognosis
;
Radionuclide Imaging
;
Sarcoma, Clear Cell*
;
Wilms Tumor
8.Adenocarcinoma Arising in an Ectopic Hamartomatous Thymoma with HER2 Overexpression
Harim OH ; Eojin KIM ; Bokyung AHN ; Jeong Hyeon LEE ; Youngseok LEE ; Yang Seok CHAE ; Chul Hwan KIM ; Yoo Jin LEE
Journal of Pathology and Translational Medicine 2019;53(6):403-406
No abstract available.
Adenocarcinoma
;
Thymoma
9.Human Papillomavirus–Related Multiphenotypic Sinonasal Carcinoma with Late Recurrence
Bokyung AHN ; Eojin KIM ; Harim OH ; Yang Seok CHAE ; Chul Hwan KIM ; Youngseok LEE ; Jeong Hyeon LEE ; Yoo Jin LEE
Journal of Pathology and Translational Medicine 2019;53(5):337-340
No abstract available.
Humans
;
Recurrence
10.Gastric Neuroendocrine Tumors According to the 2019World Health Organization Grading System: A Single-Center, Retrospective Study
Yuri KIM ; Bokyung AHN ; Kee Don CHOI ; Beom-Su KIM ; Jeong-Hwan YOOK ; Gin Hyug LEE ; Seung-Mo HONG ; Jeong Hoon LEE
Gut and Liver 2023;17(6):863-873
Background/Aims:
Although gastric neuroendocrine tumors (NETs) are uncommon neoplasms, their prevalence is increasing. The clinical importance of the World Health Organization (WHO) classification of gastric NETs, compared with NETs in other organs, has been underestimated.This study aimed to systematically evaluate the clinical and pathologic characteristics of gastric NETs based on the 2019 WHO classification and to assess the survival outcomes of patients from a single-center with a long-term follow-up.
Methods:
The medical records of 427 patients with gastric NETs who underwent endoscopic or surgical resection between January 2000 and March 2020 were retrospectively reviewed. All specimens were reclassified according to the 2019 WHO classification. The clinicopathologic characteristics, treatment, and oncologic outcomes of 139 gastric NETs were analyzed.
Results:
The patients’ median age was 53.0 years (interquartile range [IQR], 46.0 to 63.0 years). The median follow-up period was 36.0 months (IQR, 15.0 to 63.0 months). Of the patients, 92, 44, and 3 had grades 1, 2, and 3 NETs, respectively. The mean tumor size significantly increased as the tumor grade increased (p=0.025). Patients with grades 2 and 3 gastric NETs more frequently had lymphovascular invasion (29.8% vs 10.9%, p=0.005) and deeper tissue invasion (8.5% vs 0%, p=0.012) than those with grade 1 tumors. The overall disease-specific survival rate was 100%. Two patients with grades 2-3 gastric NETs experienced extragastric recurrence.
Conclusions
Although gastric NETs have an excellent prognosis, grade 2 or grade 3 gastric NETs are associated with a larger size, deeper invasion, and extragastric recurrence, which require active treatment.