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Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min Kim, Min Ro Lee, Ae Ri Ahn, Myoung Ja Chung
J Pathol Transl Med. 2024;58(6):341-345.   Published online September 5, 2024
DOI: https://doi.org/10.4132/jptm.2024.08.14
  • 2,132 View
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AbstractAbstract PDF
BRCA genes have well-known associations with breast and ovarian cancers. However, variations in the BRCA gene, especially germline variations, have also been reported in colorectal cancer (CRC). We present the case of a rectal cancer with a germline BRCA1 variation inherited from the paternal side. A 39-year-old male was admitted with rectal cancer. The patient underwent surgical resection and the pathologic diagnosis was adenocarcinoma. Next-generation sequencing was performed and a BRCA1 variant was detected. Reviewing the public database and considering the young age of the patient, the variant was suggested to be germline. The patient’s father had had prostate cancer and next-generation sequencing testing revealed an identical BRCA1 variant. In the BRCA cancer group, there is relatively little attention paid to male cancers. The accumulation of male CRC cases linked to BRCA variations may help clarify the potential pathological relationship between the two.
Original Article
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BRCA-mutated gastric adenocarcinomas are associated with chromosomal instability and responsiveness to platinum-based chemotherapy
Ji Hyun Oh, Chang Ohk Sung, Hyung-Don Kim, Sung-Min Chun, Jihun Kim
J Pathol Transl Med. 2023;57(6):323-331.   Published online November 14, 2023
DOI: https://doi.org/10.4132/jptm.2023.10.22
  • 3,564 View
  • 237 Download
  • 3 Web of Science
  • 3 Crossref
AbstractAbstract PDFSupplementary Material
Background
Homologous recombination defect is an important biomarker of chemotherapy in certain tumor types, and the presence of pathogenic or likely pathogenic mutations involving BRCA1 or BRCA2 (p-BRCA) mutations is the most well-established marker for the homologous recombination defect. Gastric cancer, one of the most prevalent tumor types in Asia, also harbors p-BRCA mutations.
Methods
To investigate the clinical significance of p-BRCA mutations, we analyzed 366 gastric cancer cases through next-generation sequencing. We determined the zygosity of p-BRCA mutations based on the calculated tumor purity through variant allelic fraction patterns and investigated whether the presence of p-BRCA mutations is associated with platinum-based chemotherapy and a certain molecular subtype.
Results
Biallelic p-BRCA mutation was associated with better response to platinum-based chemotherapy than heterozygous p-BRCA mutation or wild type BRCA genes. The biallelic p-BRCA mutations was observed only in the chromosomal instability subtype, while all p-BRCA mutations were heterozygous in microsatellite instability subtype.
Conclusions
In conclusion, patients with gastric cancer harboring biallelic p-BRCA mutations were associated with a good initial response to platinum-based chemotherapy and those tumors were exclusively chromosomal instability subtype. Further investigation for potential association with homologous recombination defect is warranted.

Citations

Citations to this article as recorded by  
  • Risk prediction criteria for the primary hepatic perivascular epithelioid cell tumour family, including angiomyolipoma: analysis of 132 cases with a literature review
    Youngeun Yoo, Jihun Kim, In Hye Song
    Histopathology.2025; 86(6): 979.     CrossRef
  • 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.     CrossRef
  • Artificial intelligence algorithm for neoplastic cell percentage estimation and its application to copy number variation in urinary tract cancer
    Jinahn Jeong, Deokhoon Kim, Yeon-Mi Ryu, Ja-Min Park, Sun Young Yoon, Bokyung Ahn, Gi Hwan Kim, Se Un Jeong, Hyun-Jung Sung, Yong Il Lee, Sang-Yeob Kim, Yong Mee Cho
    Journal of Pathology and Translational Medicine.2024; 58(5): 229.     CrossRef
Review
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Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients
Eun-Kyu Kim, So Yeon Park, Sung-Won Kim
J Pathol Transl Med. 2020;54(4):265-275.   Published online May 14, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.07
  • 8,179 View
  • 247 Download
  • 13 Web of Science
  • 13 Crossref
AbstractAbstract PDF
BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison with sporadic breast cancer. Asians constitute 60% of the world population, and although the incidence of breast cancer in Asia remains low compared to the West, breast cancer is the most prevalent female cancer in the region. The epidemiological aspects of breast cancer are different between Asians and Caucasians. Asian patients present with breast cancer at a younger age than Western patients. The contributions of BRCA1/2 mutations to breast cancer incidence are expected to differ between Asians and Caucasians, and the different genetic backgrounds among races are likely to influence the breast cancer phenotypes. However, most large-scale studies on the clinicopathological characteristics of BRCA-associated breast cancer have been on Western patients, while studies on Asian populations were small and sporadic. In this review, we provide an overview of the clinical and pathological characteristics of BRCA-associated breast cancer, incorporating findings on Asian patients.

Citations

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  • Predicting BRCA mutation and stratifying targeted therapy response using multimodal learning: a multicenter study
    Yi Li, Xiaomin Xiong, Xiaohua Liu, Mengke Xu, Boping Yang, Xiaoju Li, Yu Li, Bo Lin, Bo Xu
    Annals of Medicine.2024;[Epub]     CrossRef
  • Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next‐generation sequencing in Ramathibodi Hospital, Mahidol University
    Songporn Oranratnachai, Watchalawalee Yamkaew, Atchara Tunteeratum, Thongchai Sukarayothin, Nareenart Iemwimangsa, Ravat Panvichien
    Cancer Reports.2023;[Epub]     CrossRef
  • Prognostic and predictive biomarkers with therapeutic targets in breast cancer: A 2022 update on current developments, evidence, and recommendations
    Clement Chung, Vanessa T.Y. Yeung, Kenneth C.W. Wong
    Journal of Oncology Pharmacy Practice.2023; 29(6): 1343.     CrossRef
  • Mutations of TP53 and genes related to homologous recombination repair in breast cancer with germline BRCA1/2 mutations
    Jinyong Kim, Kyeonghun Jeong, Hyeji Jun, Kwangsoo Kim, Jeong Mo Bae, Myung Geun Song, Hanbaek Yi, Songyi Park, Go-un Woo, Dae-Won Lee, Tae-Yong Kim, Kyung-Hun Lee, Seock-Ah Im
    Human Genomics.2023;[Epub]     CrossRef
  • BRCA 1–2 Incidence in Synchronous and Metachronous Breast Cancer: a Tertiary Center Study
    Ahmet Dağ, Bilal Arslan, Erkan Güler, Serdar Mermer
    Indian Journal of Surgery.2022;[Epub]     CrossRef
  • Habitat Analysis of Breast Cancer‐Enhanced MRI Reflects BRCA1 Mutation Determined by Immunohistochemistry
    Tianming Du, Haidong Zhao, Chen Li
    BioMed Research International.2022;[Epub]     CrossRef
  • Prevalence and Factors Associated with BRCA1/2 Gene Mutation in Chinese Populations with Breast Cancer
    Guoding Huang, Hongquan Lu, Qizhu Chen, Xinting Huang
    International Journal of General Medicine.2022; Volume 15: 6783.     CrossRef
  • Association between fertility treatments and breast cancer risk in women with a family history or BRCA mutations: a systematic review and meta-analysis
    Xiaojing Liu, Jing Yue, Ruqiya Pervaiz, Hanwang Zhang, Lan Wang
    Frontiers in Endocrinology.2022;[Epub]     CrossRef
  • Relationship between Baseline [18F]FDG PET/CT Semiquantitative Parameters and BRCA Mutational Status and Their Prognostic Role in Patients with Invasive Ductal Breast Carcinoma
    Francesco Dondi, Domenico Albano, Pietro Bellini, Luca Camoni, Giorgio Treglia, Francesco Bertagna
    Tomography.2022; 8(6): 2662.     CrossRef
  • The clinical and diagnostic characteristics of BRCA-associated breast cancer
    M.A. Golotyuk, A.A. Berezhnoy, N.V. Kazantseva, A.V. Dorofeev, S.A. Shevchenko, I.V. Borzunov, N.I. Rozhkova
    Onkologiya. Zhurnal imeni P.A.Gertsena.2022; 11(6): 18.     CrossRef
  • The Clinical and Pathological Profile of BRCA1 Gene Methylated Breast Cancer Women: A Meta-Analysis
    Ilary Ruscito, Maria Luisa Gasparri, Maria Paola De Marco, Flavia Costanzi, Aris Raad Besharat, Andrea Papadia, Thorsten Kuehn, Oreste Davide Gentilini, Filippo Bellati, Donatella Caserta
    Cancers.2021; 13(6): 1391.     CrossRef
  • Changing Patterns in Clinicopathological Characteristics of Breast Cancer and Prevalence of BRCA Mutations: Analysis in a Rural Area of Southern China
    Qiuming Wang, Heming Wu, Yongquan Lan, Jinhong Zhang, Jingna Wu, Yunuo Zhang, Liang Li, Donghua Liu, Jinfeng Zhang
    International Journal of General Medicine.2021; Volume 14: 7371.     CrossRef
Original Articles
Evaluation of Protein Expression in Housekeeping Genes across Multiple Tissues in Rats
Hye Jeong Kim, Jong In Na, Byung Woo Min, Joo Young Na, Kyung Hwa Lee, Jae Hyuk Lee, Young Jik Lee, Hyung Seok Kim, Jong Tae Park
Korean J Pathol. 2014;48(3):193-200.   Published online June 26, 2014
DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.3.193
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  • 20 Crossref
AbstractAbstract PDF
Background

Housekeeping genes, which show constant protein expression patterns between different tissue types, are very important in molecular biological studies as an internal control for protein research.

Methods

The protein expression profiles of seven housekeeping genes (HPRT1, PPIA, GYS1, TBP, YWHAZ, GAPDH and ACTB) in various rat tissues (cerebrum, cerebellum, cardiac ventricle and atrium, psoas muscle, femoral muscle, liver, spleen, kidney, and aorta) were analyzed by Western blot and compared by coefficient of variation (CV).

Results

HPRT1 was stably expressed (CV≤10%) in six tissues (cerebrum, cerebellum, ventricle, femoral muscle, spleen, and kidney), PPIA was stably expressed in five tissues (cerebrum, cerebellum, ventricle, spleen and kidney), YWHAZ was stably expressed in three tissues (cerebrum, cerebellum, and kidney), and GAPDH was stably expressed in four tissues (cerebrum, ventricle, psoas muscle, and kidney). In comparison, GYS1, TBP, and ACTB were found to have CV values over 10% in all tissues. Of the seven genes examined, four (HPRT1, PPIA, YWHAZ, and GAPDH) were found to be stably expressed across multiple organs, with low CV values (≤10%).

Conclusions

These results will provide fundamental information regarding internal controls for protein expression studies and can be used for analysis of postmortem protein degradation patterns in forensic medicine.

Citations

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Primary Squamous Cell Carcinoma of the Upper Genital Tract: Utility of p16INK4a Expression and HPV DNA Status in its Differential Diagnosis from Extended Cervical Squamous Cell Carcinoma
Su Hyun Yoo, Eun-Mi Son, Chang Okh Sung, Kyu-Rae Kim
Korean J Pathol. 2013;47(6):549-556.   Published online December 24, 2013
DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.6.549
  • 7,738 View
  • 65 Download
  • 6 Crossref
AbstractAbstract PDF
Background

Primary squamous cell carcinoma (SCC) of the upper genital tract, including the endometrium, fallopian tubes, and ovaries, is extremely rare. It must be distinguished from the mucosal extension of primary cervical SCC because determination of the primary tumor site is important for tumor staging. However, patients with SCC of the fallopian tubes or ovarian surface have often undergone prior hysterectomy with inadequate examination of the cervix, making it difficult to determine the primary site.

Methods

We compared histologic findings, p16INK4a expression, and human papillomavirus (HPV) DNA status in four patients with primary SCC of the upper genital tract and five patients with primary cervical SCC extending to the mucosa of the upper genital tract.

Results

All five SCCs of cervical origin showed strong expression of p16INK4a, whereas all four SCCs of the upper genital tract were negative, although one showed weak focal staining. Three of the five cervical SCCs were positive for HPV16 DNA, whereas all four primary SCCs of the upper genital tract were negative for HPV DNA.

Conclusions

Although a thorough histological examination is important, immunonegativity for p16INK4a and negative for HPV DNA may be useful adjuncts in determining primary SCCs of the upper genital tract.

Citations

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  • A Case of Squamous Cell Carcinoma Clinically Thought to be Arising From Bursa of Knee Joint
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Immunohistochemical Classification of Primary and Secondary Glioblastomas
Kyu Sang Lee, Gheeyoung Choe, Kyung Han Nam, An Na Seo, Sumi Yun, Kyung Ju Kim, Hwa Jin Cho, Sung Hye Park
Korean J Pathol. 2013;47(6):541-548.   Published online December 24, 2013
DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.6.541
  • 8,351 View
  • 64 Download
  • 18 Crossref
AbstractAbstract PDF
Background

Glioblastomas may develop de novo (primary glioblastomas, P-GBLs) or through progression from lower-grade astrocytomas (secondary glioblastomas, S-GBLs). The aim of this study was to compare the immunohistochemical classification of glioblastomas with clinically determined P-GBLs and S-GBLs to identify the best combination of antibodies for immunohistochemical classification.

Methods

We evaluated the immunohistochemical expression of epidermal growth factor receptor (EGFR), p53, and isocitrate dehydrogenase 1 (IDH-1) in 150 glioblastoma cases.

Results

According to clinical history, the glioblastomas analyzed in this study consisted of 146 P-GBLs and 4 S-GBLs. Immunohistochemical expression of EGFR, p53, and IDH-1 was observed in 62.6%, 49.3%, and 11.1%, respectively. Immunohistochemical profiles of EGFR(+)/p53(-), IDH-1(-)/EGFR(+)/p53(-), and EGFR(-)/p53(+) were noted in 41.3%, 40.2%, and 28.7%, respectively. Expression of IDH-1 and EGFR(-)/p53(+) was positively correlated with young age. The typical immunohistochemical features of S-GBLs comprised IDH-1(+)/EGFR(-)/p53(+), and were noted in 3.6% of clinically P-GBLs. The combination of IDH-1(-) or EGFR(+) was the best set of immunohistochemical stains for identifying P-GBLs, whereas the combination of IDH-1(+) and EGFR(-) was best for identifying S-GBLs.

Conclusions

We recommend a combination of IDH-1 and EGFR for immunohistochemical classification of glioblastomas. We expect our results to be useful for determining treatment strategies for glioblastoma patients.

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Case Report
Primary Endometrial Squamous Cell Carcinoma: A Case Report and Review of Relevant Literature on Korean Women
Sung Jong Lee, Hyun Joo Choi
Korean J Pathol. 2012;46(4):395-398.   Published online August 23, 2012
DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.4.395
  • 7,918 View
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  • 13 Crossref
AbstractAbstract PDF

Primary endometrial squamous cell carcinoma (PESCC) is an extremely rare tumor with unclear pathogenesis. A 54-year-old postmenopausal woman presented with a 6-month history of vaginal bleeding. The patient was provisionally diagnosed with uterine submucosal leiomyoma. This was followed by total hysterectomy with a bilateral salpingo-oophorectomy under the laparoscopic guidance. Histopathologically, the tumor was PESCC which was accompanied by a lack of the tumor in the uterine cervix. The tumor showed positive immunoreactivity for p16INK4a. But there was no evidence of human papillomavirus (HPV) on in situ hybridization and HPV DNA chip analysis. We also present a review of the relevant literature on Korean women.

Citations

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  • Primary endometrial squamous cell carcinoma (PESCC): Review of the literature and case report
    Kuang-Han Liu, Chia-Chin Tsai, Krystal Baysan Lin, Pei-Shen Huang
    Taiwanese Journal of Obstetrics and Gynecology.2025; 64(1): 159.     CrossRef
  • p16 Block Type Overexpression, p53 Wild Type Reactivity, and Cervical Involvement do not Always Exclude the Diagnosis of Primary Endometrial Squamous Cell Carcinoma (PESCC)
    Daniela Fanni, Clara Gerosa, Michele Peiretti, Valerio Mais, Elena Massa, Stefano Angioni, Gavino Faa
    International Journal of Gynecological Pathology.2024; 43(2): 200.     CrossRef
  • Pathogenetic characteristics of endometrioid adenocarcinoma of uterus at present stage
    T. I. Moiseenko, S. V. Shatalova, E. M. Nepomnyashchaya, V. A. Bandovkina, M. L. Adamyan
    Medical alphabet.2024; (36): 35.     CrossRef
  • Case report: Clinicopathological characteristic of two cases of primary endometrial squamous cell carcinoma and review of the literature
    Hui-Bin Zhang, Li-Hua Lin, Qiu-Ping Lin, Yuan-Qing Lin, Dan Luo, Shu-Xia Xu
    Frontiers in Oncology.2024;[Epub]     CrossRef
  • Treatment of primary squamous cell carcinoma of the endometrium and review of previous literature: A case report
    Liyun Song, Qi Wu, Suning Bai, Ren Xu, Xiaona Wang, Yanyan Yang
    Medicine.2023; 102(17): e33667.     CrossRef
  • Prevalence of human papilloma virus and Chlamydia trachomatis in endometrial and cervical carcinoma: a comparative study in North Indian women
    Heena Gautam, Sumita Mehta, Nidhi Nayar, Neha Kumar, Syed Akhtar Husain, Mausumi Bharadwaj
    Systems Biology in Reproductive Medicine.2023; 69(6): 399.     CrossRef
  • PAX8 Positivity, Abnormal p53 Expression, and p16 Negativity in a Primary Endometrial Squamous Cell Carcinoma: A Case Report and Review of the Literature
    Daniela Fanni, Michele Peiretti, Valerio Mais, Elena Massa, Clara Gerosa, Francesca Ledda, Maria Luisa Fais, Gavino Faa, Stefano Angioni
    International Journal of Gynecological Pathology.2022; 41(4): 431.     CrossRef
  • Molecular Analysis of HPV-independent Primary Endometrial Squamous Cell Carcinoma Reveals TP53 and CDKN2A Comutations
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  • Primary squamous cell carcinoma of the endometrium associated with human papilloma virus in a young woman: a case report
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    Journal of Medical Case Reports.2019;[Epub]     CrossRef
  • Primary squamous cell carcinoma of the endometrium in a woman of perimenopausal age
    Chao Zhang, Hongyan Zhang, Linqing Yang, Yunfei Wang, Xiaoyu Li, Jinfeng Guo, Jing Xu
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Original Articles
Prognostic Significance of Methylation Profiles in Urothelial Carcinomas of the Bladder.
Hee Jung Park, Eui Jin Lee, Sang Yun Ha, Ghee Young Kwon, Young Lyun Oh, Kyoung Mee Kim, Dae Shick Kim, Seongil Seo, Hyun Moo Lee, Han Yong Choi
Korean J Pathol. 2010;44(6):623-630.
DOI: https://doi.org/10.4132/KoreanJPathol.2010.44.6.623
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  • 1 Crossref
AbstractAbstract PDF
BACKGROUND
Study on epigenetics of urothelial carcinomas has expanded and allowed better understanding of their correlation with clinicopathologic features. The aim of this study was to determine reliable predictive epigenetic markers for patients with urothelial carcinoma of urinary bladder.
METHODS
In 64 urothelial carcinomas of the urinary bladder, methylationspecific polymerase chain reaction with RAS association domain family 1A (RASSF1A), adenomatous polyposis coli (APC), death-associated protein-kinase (DAPK), runt-related transcription factor 3 (RUNX3), p14, p16 and MGMT was performed and correlated the results with p53 mutations, DNA ploidy, clinicopathologic parameters and recurrences.
RESULTS
Hypermethyation of RASSF1A, APC, DAPK, RUNX3, p14, p16 and MGMT promoters was observed in 35 (54.7%), 29 (45.3%), 18 (28.1%), 18 (28.1%), 9 (14.1%), 2 (3.1%), and 6 (9.4%) cases, respectively. Hypermethylation of RUNX3 and APC was significantly associated with high histologic grades and aneuploidy. Methylation of DAPK was significantly associated with muscle invasion. Methylation of DAPK and RUNX3 genes was significantly associated with recurrence. In survival analyses, methylation of RUNX3 gene and methylation-high (methylation at two or more loci) phenotype was significantly associated with poor recurrence-free survival.
CONCLUSIONS
Methylation of RUNX3 gene and methylation-high phenotype are significant indicator of recurrence.

Citations

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  • DAPK Promoter Methylation and Bladder Cancer Risk: A Systematic Review and Meta-Analysis
    Lihe Dai, Chong Ma, Zhensheng Zhang, Shuxiong Zeng, Anwei Liu, Shijie Tang, Qian Ren, Yinghao Sun, Chuanliang Xu, Shengtao Zhou
    PLOS ONE.2016; 11(12): e0167228.     CrossRef
Expression of p53 and Vascular Endothelial Growth Factor mRNA in Angiogenesis of Non-Small Cell Lung Carcinoma.
Jun Seog Kim, Tae In Park, Myoung Hoon Lee, Eun Kyoung Kwak, Ji Young Park, Jung Sik Kwak, Jong Min Chae
Korean J Pathol. 2003;37(1):35-40.
  • 1,826 View
  • 12 Download
AbstractAbstract PDF
BACKGROUND
Angiogenesis is one of the most important factors in the progression and me-tastasis of malignancies. Angiogenesis is a multistep process requiring the interaction of numerous factors able to stimulate the growth and development of new vessels. But, understanding of the mechanism involved in VEGF expression is unclear.
METHODS
Expressions of p53 and VEGF, and neovasculiarization were examined in 19 cases of surgically resected non-small cell carcinoma of the lung by the immunohistochemical staining. Furthermore, VEGF mRNA expressions were quantified in all cases using the real-time quantitative RT-PCR. These results were compared with clinicopathologic parameters such as histologic grade and stage.
RESULTS
Tumors with high aberrant p53 expressions showed significantly higher VEGF mRNA ex-pressions and microvessel counts than those with low p53 expressions. Expressions of p53 as well as VEGF and micovessel counts were closely associated with the tumor stage, but not with the histologic grade and other clinical parameters.
CONCLUSIONS
These results suggest that aberrant p53 expression may play a role in the regulation of VEGF expression and may be involved in controlling angiogenesis in non-small cell carcinoma of the lung.
An Analysis of HER-2/neu, ERCC1, and GST-pi in Advanced Non-Small Cell Lung Cancer Patients Who are Treated with Platinum-based Chemotherapy.
Kyung Jin Seo, Byoung Yong Shim, Hoon Kyo Kim, Ji Han Jung, Jinyoung Yoo, Seok Jin Kang, Kyo Young Lee
Korean J Pathol. 2008;42(6):327-334.
  • 1,920 View
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AbstractAbstract PDF
BACKGROUND
Platinum-based chemotherapy has shown to be an effective first-line treatment for patients with advanced stage, unresectable non-small cell lung cancer (NSCLC). We evaluated the response rate to combination chemotherapy with cisplatin and taxane, and the significance of the HER-2/neu, ERCC1, and GST-pi status as predictive markers for the tumor response. METHODS: The HER-2/neu, ERCC1, and GST-pi status were analyzed in the biopsy specimens obtained from 35 patients with advanced stage NSCLC prior to cisplatin plus either paclitaxel or docetaxel chemotherapy. RESULTS: The response rate of the tumors to combination chemotherapy was 62.9% (22/35). HER-2/neu was amplified in 51.4% (18/35) of the tumors, and this was observed exclusively in patients with progressive disease (p=0.014). ERCC1 was overexpressed in 77.2% of the specimens (27/35), and this showed a tendency to correlate with the tumor response (p=0.057). GST-pi was detected in 85.7% of the specimens (30/35). Seventy-seven percent of the patients with a negative HER-2/neu and positive ERCC1 status showed a partial response, which was in contrast to only a 25% response rate for the patients with a positive HER-2/neu and negative ERCC1 status (p=0.006). The overall survival was prolonged in the patients without HER-2/neu amplification (15 vs 8.5 months, respectively, p=0.008). On multivariate analysis, the HER-2/neu status remained the significant predictor of survival (p=0.005). CONCLUSIONS: A combination of the ERCC1, HER-2/neu status may define a subset of patients with the most favorable response to combination chemotherapy regimens for treating advanced NSCLC.
Diffuse Large B Cell Lymphoma Shows Distinct Methylation Profiles of the Tumor Suppressor Genes among the Non-Hodgkin's Lymphomas.
Sun Och Yoon, Young A Kim, Yoon Kyung Jeon, Ji Eun Kim, Gyeong Hoon Kang, Chul Woo Kim
Korean J Pathol. 2008;42(1):16-20.
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AbstractAbstract PDF
BACKGROUND
Aberrant methylation of CpG islands in promoter regions is one of the major mechanisms for silencing of tumor suppressor genes in various types of human cancers including non-Hodgkin's lymphomas (NHL). In this study, we investigated the aberrant promoter methylation status of known or suspected tumor suppressor genes in NHLs and compared the methylation profiles between B-cell and T/NK-cell NHLs.
METHODS
54 cases of B-cell NHLs and 16 cases of T/NK-cell NHLs were examined for the methylation status of eight genes using methylation specific PCR.
RESULTS
CpG islands methylation was variously found in eight genes as follows; DAPK (71%), MT1G (70%), p16 (53%), CDH1 (53%), THBS1 (56%), MGMT (27.1%), COX2 (13%), and RUNX3 (11.4%). In six cases (8 %), methylation was not observed in any of these genes. Overall methylation index of B-cell NHLs (0.48) was significantly higher than that of T/NK-cell NHLs (0.32). Of eight genes tested, THBS1 and CDH1 methylations were much more prominent in diffuse large B-cell lymphomas than in T/NK-cell NHLs or other B-cell NHLs.
CONCLUSION
This study suggests that aberrant CpG island methylation is a frequent event in NHLs, and diffuse large B-cell lymphomas show overlapping but distinct methylation profiles.
Case Report
Intraneural Perineurioma in the Tongue: A Case Report.
Jun Kang, Shin Kwang Khang, Jene Choi, Jeong Won Kim, Eul Ju Seo, Bu kyu Lee, Eunsil Yu
Korean J Pathol. 2007;41(1):51-54.
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AbstractAbstract PDF
We report a case of an intraneural perineurioma that developed in an unusual location, the tongue. A 16-year-old male presented with a 1 cm sized protruding submucosal mass in his tongue without any sensory or motor signs or symptoms. The mass was excised. The mucosa was intact, with an ill-defined firm mass measuring 1.0 x 0.8 x 0.6 cm in the submucosa and muscle. The cut surface of the mass was pinkish gray and fibrotic. Microscopically, the mass contained tortuous and thickened peripheral nerve bundles in the submucosa, showing onion bulb like structures. The onion bulb like structures consisted of centrally located S-100 protein positive Schwann cells surrounded by Glut-1 positive perineurial cells. The FISH study did not reveal any genetic aberrations in chromosome 22.
Original Article
PTEN and p53 Mutations in Endometrial Carcinomas.
Jae Sung Choi, Kwang Sun Suh, Heung Tae Noh, Yun Ee Rhee, Sun Young Na, Hye Kyung Lee
Korean J Pathol. 2005;39(1):1-8.
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AbstractAbstract PDF
BACKGROUND
Endometrial carcinomas are pathogenetically classified into two major types; endometrioid carcinoma (EC) and serous carcinoma (SC). The most frequently altered gene in EC is the PTEN tumor suppressor gene (TSG). SC is usually associated with mutations in the p53 TSG.
METHODS
To further determine the role of PTEN and p53 mutation in endometrial carcinogenesis, the analysis of 33 endometrial carcinomas, including 28 ECs and 5 SCs, for loss of heterozygosity (LOH) on 10q23 and for mutation in all 9 coding exons of PTEN and the 5-8 exons of p53, using SSCP-PCR methods was carried out.
RESULTS
LOH was detected in at least one marker in 12 (54.5%) of 22 ECs, but in only one (20.0%) of 5 SCs. Somatic PTEN mutations were detected in 10 (35.7%) of 28 ECs. PTEN was altered in 67.9% of ECs and in 20.0% of SCs, including those with 10q23 LOH. No PTEN mutations were found among the SCs. Somatic p53 mutations were detected in 2 (7.1%) of 28 ECs and 3 (60.0%) of 5 SCs.
CONCLUSIONS
PTEN gene alterations contribute to the pathogenesis of an endometrioid subtype of endometrial carcinoma, but not to the serous type. In contrast, p53 plays an important role in the pathogenesis of SCs.

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