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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
  • 1,017 View
  • 131 Download
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 Articles
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The spectrum of microvascular patterns in adult diffuse glioma and their correlation with tumor grade
Soni , Vaishali Walke, Deepti Joshi, Tanya Sharma, Adesh Shrivastava, Amit Agrawal
J Pathol Transl Med. 2024;58(3):127-133.   Published online May 14, 2024
DOI: https://doi.org/10.4132/jptm.2024.03.11
  • 1,713 View
  • 249 Download
AbstractAbstract PDF
Background
Primary brain tumors constitute the leading cause of cancer-related mortality. Among them, adult diffuse gliomas are the most common type, affecting the cerebral hemispheres and displaying a diffuse infiltrative pattern of growth in the surrounding neuropil that accounts for about 80% of all primary intracranial tumors. The hallmark feature of gliomas is blood vessel proliferation, which plays an important role in tumor growth, tumor biological behavior, and disease outcome. High-grade gliomas exhibit increased vascularity, the worst prognosis, and lower survival rates. Several angiogenic receptors and factors are upregulated in glioblastomas and stimulate angiogenesis signaling pathways by means of activating oncogenes and/or down-regulating tumor-suppressor genes. Existing literature has emphasized that different microvascular patterns (MVPs) are displayed in different subtypes of adult diffuse gliomas.
Methods
We examined the distribution and biological characteristics of different MVPs in 50 patients with adult diffuse gliomas. Haematoxylin and eosin staining results, along with periodic acid–Schiff and CD34 dual-stained sections, were examined to assess the vascular patterns and correlate with different grades of diffuse glioma.
Results
The present observational study on adult diffuse glioma evaluated tumor grade and MVPs. Microvascular sprouting was the most common pattern, while a bizarre pattern (type 2) was associated with the presence of a high-grade glioma. Vascular mimicry was observed in 6% of cases, all of which were grade 4 gliomas.
Conclusions
This study supplements the role of neo-angiogenesis and aberrant vasculature patterns in the grading and progression of adult diffuse gliomas, which can be future targets for planning treatment strategies.
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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
  • 1,971 View
  • 214 Download
  • 1 Web of Science
  • 1 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  
  • 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
  • 6,925 View
  • 236 Download
  • 12 Web of Science
  • 12 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

Citations to this article as recorded by  
  • 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; 2022: 1.     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 Article
Implication of PHF2 Expression in Clear Cell Renal Cell Carcinoma
Cheol Lee, Bohyun Kim, Boram Song, Kyung Chul Moon
J Pathol Transl Med. 2017;51(4):359-364.   Published online June 13, 2017
DOI: https://doi.org/10.4132/jptm.2017.03.16
  • 7,135 View
  • 166 Download
  • 9 Web of Science
  • 10 Crossref
AbstractAbstract PDF
Background
Clear cell renal cell carcinoma (CCRCC) is presumed to be associated with adipogenic differentiation. Histone modification is known to be important for adipogenesis, and the function of histone demethylase plant homeodomain finger 2 (PHF2) has been noted. In addition, PHF2 may act as a tumor suppressor via epigenetic regulation of p53 and is reported to be reduced in colon cancer and stomach cancer tissues. In this study, we examined PHF2 expression in CCRCC specimens by immunohistochemistry.
Methods
We studied 254 CCRCCs and 56 non-neoplastic renal tissues from patients who underwent radical or partial nephrectomy between 2000 and 2003 at the Seoul National University Hospital. Tissue microarray blocks were prepared, and immunohistochemical staining for PHF2 was performed.
Results
Among 254 CCRCC cases, 150 cases (59.1%) showed high expression and 104 cases (40.1%) showed low expression. High expression of PHF2 was significantly correlated with a low Fuhrman nuclear grade (p < .001), smaller tumor size (p < .001), low overall stage (p = .003), longer cancer-specific survival (p = .002), and progression-free survival (p < .001) of the patients. However, it was not an independent prognostic factor in multivariate analysis adjusted for Fuhrman nuclear grade and overall stage.
Conclusions
Our study showed that low expression of PHF2 is associated with aggressiveness and poor prognosis of CCRCC.

Citations

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    Molecular Biology Reports.2023; 50(3): 2735.     CrossRef
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    Informatics in Medicine Unlocked.2021; 24: 100629.     CrossRef
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    Ignacio Alonso-de Vega, Maria Cristina Paz-Cabrera, Magdalena B Rother, Wouter W Wiegant, Cintia Checa-Rodríguez, Juan Ramón Hernández-Fernaud, Pablo Huertas, Raimundo Freire, Haico van Attikum, Veronique A J Smits
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    Sarder Arifuzzaman, Mst Reshma Khatun, Rabeya Khatun
    Biomedicine & Pharmacotherapy.2020; 129: 110392.     CrossRef
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    Tyler S. McCann, Lays M. Sobral, Chelsea Self, Joseph Hsieh, Marybeth Sechler, Paul Jedlicka
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    Yi Fu, Mingyan Liu, Fengxia Li, Li Qian, Ping Zhang, Fengwei Lv, Wenting Cheng, Ruixing Hou
    BioMed Research International.2019; 2019: 1.     CrossRef
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    Stella Pappa, Natalia Padilla, Simona Iacobucci, Marta Vicioso, Elena Álvarez de la Campa, Claudia Navarro, Elia Marcos, Xavier de la Cruz, Marian A. Martínez-Balbás
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    Zheng Ge, Yan Gu, Qi Han, Justin Sloane, Qinyu Ge, Goufeng Gao, Jinlong Ma, Huihui Song, Jiaojiao Hu, Baoan Chen, Sinisa Dovat, Chunhua Song
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Reviews
Pathology-MRI Correlation of Hepatocarcinogenesis: Recent Update
Jimi Huh, Kyung Won Kim, Jihun Kim, Eunsil Yu
J Pathol Transl Med. 2015;49(3):218-229.   Published online May 15, 2015
DOI: https://doi.org/10.4132/jptm.2015.04.15
  • 23,030 View
  • 308 Download
  • 11 Web of Science
  • 9 Crossref
AbstractAbstract PDF
Understanding the important alterations during hepatocarcinogenesis as well as the characteristic magnetic resonance imaging (MRI) and histopathological features will be helpful for managing patients with chronic liver disease and hepatocellular carcinoma. Recent advances in MRI techniques, such as fat/iron quantification, diffusion-weighted images, and gadoxetic acid-enhanced MRI, have greatly enhanced our understanding of hepatocarcinogenesis.

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Molecular Imaging in the Era of Personalized Medicine
Kyung-Ho Jung, Kyung-Han Lee
J Pathol Transl Med. 2015;49(1):5-12.   Published online January 15, 2015
DOI: https://doi.org/10.4132/jptm.2014.10.24
  • 12,076 View
  • 201 Download
  • 30 Web of Science
  • 25 Crossref
AbstractAbstract PDF
Clinical imaging creates visual representations of the body interior for disease assessment. The role of clinical imaging significantly overlaps with that of pathology, and diagnostic workflows largely depend on both fields. The field of clinical imaging is presently undergoing a radical change through the emergence of a new field called molecular imaging. This new technology, which lies at the intersection between imaging and molecular biology, enables noninvasive visualization of biochemical processes at the molecular level within living bodies. Molecular imaging differs from traditional anatomical imaging in that biomarkers known as imaging probes are used to visualize target molecules-of-interest. This ability opens up exciting new possibilities for applications in oncologic, neurological and cardiovascular diseases. Molecular imaging is expected to make major contributions to personalized medicine by allowing earlier diagnosis and predicting treatment response. The technique is also making a huge impact on pharmaceutical development by optimizing preclinical and clinical tests for new drug candidates. This review will describe the basic principles of molecular imaging and will briefly touch on three examples (from an immense list of new techniques) that may contribute to personalized medicine: receptor imaging, angiogenesis imaging, and apoptosis imaging.

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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
  • 12,887 View
  • 144 Download
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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.

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Uncommon and Rare Human Papillomavirus Genotypes Relating to Cervical Carcinomas
Na Rae Kim, Myunghee Kang, Soon Pyo Lee, Hyunchul Kim, Jungsuk An, Dong Hae Chung, Seung Yeon Ha, Hyun Yee Cho
Korean J Pathol. 2014;48(1):43-49.   Published online February 25, 2014
DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.1.43
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AbstractAbstract PDF
Background

Human papillomavirus (HPV) is an oncogenic virus in cervical cancer and most invasive carcinomas (ICs) are caused by HPV16 and 18. However, the roles and contributions of other uncommon and rare genotypes remain uncertain.

Methods

HPV genotypes were retrospectively assessed using an HPV DNA chip that can specify up to 32 HPV genotypes. We arbitrarily regarded genotypes accounting for less than 6% of the total as uncommon and rare genotypes.

Results

A total of 3,164 HPV-positive cases were enrolled. In groups 2A, 2B, 3, and unclassified HPV genotypes, 2.4% of cases with uncommon HPV genotypes (68, 26, 34, 53, 66, 69, 70, 73, 40, 42, 43, 44, 54, 55, 61, 62, 6, and 11) showed high grade squamous intraepithelial lesions and ICs. There were no HPV32- and 57-infected cases.

Conclusions

We found that the uncommon and rare HPV genotypes may provide incremental etiologic contributions in cervical carcinogenesis, especially HPV68, 70, and 53. Further studies on these uncommon and rare HPV genotypes will be of importance in establishing the significance of genotypes in different regions, especially in planning a strategy for further vaccine development as well as follow-up on the effectiveness of the currently used vaccines.

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  • High-risk human papillomavirus diversity among indigenous women of western Botswana with normal cervical cytology and dysplasia
    Patricia S. Rantshabeng, Billy M. Tsima, Andrew K. Ndlovu, Keneilwe Motlhatlhedi, Kirthana Sharma, Carol B. Masole, Natasha O. Moraka, Kesego Motsumi, Angela K. T. Maoto-Mokote, Alemayehu B. Eshetu, Leabaneng Tawe, Tendani Gaolathe, Sikhulile Moyo, Lynnet
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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
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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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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
  • 7,434 View
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  • 16 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 Study
Peripheral Primitive Neuroectodermal Tumor with Osseous Component of the Small Bowel Mesentery: A Case Study
Joon Mee Kim, Young Chae Chu, Chang Hwan Choi, Lucia Kim, Suk Jin Choi, In Suh Park, Jee Young Han, Kyung Rae Kim, Yoon-La Choi, Taeeun Kim
Korean J Pathol. 2013;47(1):77-81.   Published online February 25, 2013
DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.77
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AbstractAbstract PDF

A case of peripheral primitive neuroectodermal tumor of the small bowel mesentery with osseous component is reported. A 23-year-old man was admitted to our hospital because of acute severe abdominal pain. Abdominal computed tomography revealed a large solid and cystic, oval shaped mass, measuring 11.0×6.0 cm in the pelvic cavity. Histologically the resected lesion consisted of sheets of undifferentiated small round cells forming Homer-Wright rosettes and perivascular pseudorosettes, and showed areas of osteoid and bone formation. Immunohistochemical studies revealed that tumor cells expressed positivity against CD99 (MIC2), CD57, neuron-specific enolase, and vimentin. Fluorescence in situ hybridization study revealed Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement on chromosome 22q12. To the authors' knowledge this is the first documentation of a peripheral neuroectodermal tumor with osteoid and bone formation of the small bowel mesentery.

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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
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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.

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Original Articles
The Expression of Pigment Epithelium-Derived Factor in Bladder Transitional Cell Carcinoma
Tae Jung Jang, Sung Woo Kim, Kyung Seop Lee
Korean J Pathol. 2012;46(3):261-265.   Published online June 22, 2012
DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.3.261
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AbstractAbstract PDF
Background

Pigment epithelium-derived factor (PEDF) is an anti-angiogenic factor. The purpose of this study is to examine the involvement of PEDF in the angiogenesis and biological behavior of bladder transitional cell carcinoma (TCC).

Methods

We examined the expression of PEDF in 99 bladder TCCs and ten non-neoplastic tissues, and evaluated microvessel density (MVD).

Results

The positive immunoreactivity for PEDF was seen in normal urothelium in 60% (6/10) and TCC in 13% (13/99). The PEDF expression had a significant correlation with MVD, i.e., a low MVD in 42% (5/12), a middle MVD in 11% (8/76) and a high MVD 0% (0/11) of tumors. The PEDF expression was not significantly correlated with the differentiation and invasion of TCC, but the degree of MVD was significantly higher in both high grade TCC and the pT2 tumors.

Conclusions

The degree of PEDF expression is significantly higher in normal bladder urothelium than bladder TCC; it is inversely correlated with the angiogenesis; and it is not related to the differentiation and progression of TCC. It can therefore be concluded that bladder TCC would initially occur if there is a lack of the PEDF expression.

Citations

Citations to this article as recorded by  
  • Association of pigment epithelium derived factor expression with cancer progression and prognosis: a meta-analysis study
    Guo Cheng, Crystal Song
    Discover Oncology.2021;[Epub]     CrossRef
  • Level of mitoses in non-muscle invasive papillary urothelial carcinomas (pTa and pT1) at initial bladder biopsy is a simple and powerful predictor of clinical outcome: a multi-center study in South Korea
    Ji Eun Kwon, Nam Hoon Cho, Yeong-Jin Choi, So Dug Lim, Yong Mee Cho, Sun Young Jun, Sanghui Park, Young A. Kim, Sung-Sun Kim, Mi Sun Choe, Jung-dong Lee, Dae Yong Kang, Jae Y. Ro, Hyun-Jung Kim
    Diagnostic Pathology.2017;[Epub]     CrossRef
  • Endogenous Gastric-Resident Mesenchymal Stem Cells Contribute to Formation of Cancer Stroma and Progression of Gastric Cancer
    Eun-Kyung Kim, Hye-Jung Kim, Young-Il Yang, Jong Tae Kim, Min-Young Choi, Chang Soo Choi, Kwang-Hee Kim, Jeong-Han Lee, Won-Hee Jang, Soon-Ho Cheong
    Korean Journal of Pathology.2013; 47(6): 507.     CrossRef
Expression of Multidrug Resistance Protein 1 in Human Hepatocellular Carcinoma.
Yun Kyung Kang
Korean J Pathol. 2011;45(3):281-289.
DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.3.281
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AbstractAbstract PDF
BACKGROUND
Multidrug resistance protein 1 (MDR1) encoded by ATP-binding cassette, sub-family B (Mdr/Tap), member 1 (ABCB1) mediates cross-resistance to antineoplastic drugs, and its expression is related to tumor aggressiveness.
METHODS
MDR1 expression was investigated in 100 hepatocellular carcinomas (HCCs) by immunohistochemical staining. The epigenetic mechanisms underlying ABCB1 transcriptional regulation were investigated in cell lines.
RESULTS
MDR1 was normally localized in the bile canalicular surface of the hepatocytes. Among 100 HCCs, 45 showed canalicular/luminal (CL) staining similar to the normal pattern, another 45 displayed membranous/cytoplasmic (MC) overexpression, and the remaining 10 revealed loss of expression. MC pattern or null staining of HCCs correlated with a higher histological grade and had a poorer prognosis than HCCs with a CL pattern (p<0.05). They also tended to have a poor prognosis by multivariate survival analysis. The ABCB1 promoter was hypomethylated regardless of MDR1 expression or ABCB1 mRNA levels in 10 HCC cell lines. Histone deacetylase inhibitor treatment induced ABCB1 upregulation in 4 cell lines with low or moderate ABCB1 levels.
CONCLUSIONS
Our findings suggest that either an increase or a loss of MDR1 expression may contribute to the poor outcome of HCCs; histone deacetylation may be one of the epigenetic mechanisms directing the ABCB1 expression in HCCs.

Citations

Citations to this article as recorded by  
  • Preferential expression of prostate specific membrane in CD34 labeled Neo-vasculature of Hepatocellular carcinoma: Prognostic and therapeutic potentials
    Safaa MM Abd El Khalek, Mona QR Mohammed, Amira M Al Balakosy
    Egyptian Journal of Pathology.2023; 43(1): 66.     CrossRef

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