Journal of Pathology and Translational Medicine

Case Report

The Wolf-Hirschhorn Syndrome in Fetal Autopsy: A Case Report.: Sun Ju Byeon, Jae Kyung Myung, Sung Hye Park; Korean J Pathol. 2011;45:S15-S19.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.S1.S15

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Wolf-Hirschhorn syndrome (WHS) is a malformation associated with a hemizygous deletion of the distal short arm of chromosome 4. Herein we report a fetal autopsy case of WHS. A male fetus was therapeutically aborted at 17(+0) weeks gestational age, due to complex anomaly and intrauterine growth retardation, which were found in prenatal ultrasonography. His birth weight was 65 g. Mild craniofacial dysmorphism, club feet, bilateral renal hypoplasia, edematous neck, and left diaphragmatic hernia of Bochdalek were found on gross examination. On GTG-banding, the fetus revealed 46,XY,add(4p) karyotype and the mother revealed 46,XX,t(4;18)(p16;q21.1), with normal karyotype of the father. Array comparative genomic hybridization performed on the autopsied lung tissue revealed loss of 4p16.2-->4pter and gain of 18q21.1-->18qter, suggesting 46,XY,der(4)t(4;18)(p16.2;q21.1)mat of fetal karyotype. This suggested deletion of 4p, compatible with WHS inherited from the mal-segregation of a maternal translocation t(4;18)(p16.2;21.1). Therefore, our fetus was both genotypically and phenotypically compatible with WHS.

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A Case of Wolf-Hirschhorn Syndrome with Periventricular Nodular Heterotopia Presenting with Status Epilepticus
Bong Sul Suh, Keun Hyeok Ko, Kon Hee Lee, Tae-Jung Sung
Neonatal Medicine.2015; 22(4): 233. CrossRef
Rhabdoid glioblastoma is distinguishable from classical glioblastoma by cytogenetics and molecular genetics
Sun-Ju Byeon, Hwa Jin Cho, Hae Woon Baek, Chul-Kee Park, Seung-Hong Choi, Se-Hoon Kim, Hee Kyung Kim, Sung-Hye Park
Human Pathology.2014; 45(3): 611. CrossRef

Original Articles

Molecular Biological Characteristics of Differentiated Early Gastric Cancer on the Basis of Mucin Expression.: Nari Shin, Hye Yeon Kim, Woo Kyung Kim, Min Gyung Park, Kyung Bin Kim, Dong Hoon Shin, Kyung Un Choi, Jee Yeon Kim, Chang Hun Lee, Gi Young Huh, Mee Young Sol, Do Youn Park; Korean J Pathol. 2011;45(1):69-78.; DOI: https://doi.org/10.4132/KoreanJPathol.2011.45.1.69

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Abstract PDF

BACKGROUND
It is clear that the biologic characteristics of gastric cancer are different on the basis of mucin phenotypes. However, there are unabated controversies on the exact biologic differences of mucin expression in gastric cancer.
METHODS
We analyzed various protein expressions and microsatellite instability (MSI) status based on mucin expression in 130 differentiated early gastric adenocarcinoma cases. Furthermore, we evaluated the genomic alternation in 10 selected differentiated early gastric adenocarcinoma cases using array based comparative genomic hybridization (aCGH).
RESULTS
Intestinal mucin predominant subtype showed significantly elevated p53 protein and caudal-related homeobox 2 expression, and delocalization of beta catenin expressions compared to the gastric mucin predominant subtype. On MSI status, the gastric mucin predominant subtype more frequently showed unstable status than the intestinal mucin predominant subtype. CGH study showed more frequent chromosomal gain and loss in the intestinal mucin predominant subtype than the gastric mucin predominant subtype, albeit without statistical significance. Interestingly, there were significant differences in chromosomal alternation between four mucin phenotypes.
CONCLUSIONS
Study results suggest possible different points of biologic behaviors in early differentiated gastric adenocarcinomas by mucin expression type.

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Mucin Expression in Gastric Cancer: Reappraisal of Its Clinicopathologic and Prognostic Significance
Dae Hwan Kim, Nari Shin, Gwang Ha Kim, Geum Am Song, Tae-Yong Jeon, Dong-Heon Kim, Gregory Y. Lauwers, Do Youn Park
Archives of Pathology & Laboratory Medicine.2013; 137(8): 1047. CrossRef
Microsatellite Instability Status in Gastric Cancer: A Reappraisal of Its Clinical Significance and Relationship with Mucin Phenotypes
Joo-Yeun Kim, Na Ri Shin, Ahrong Kim, Hyun-Jeong Lee, Won-young Park, Jee-Yeon Kim, Chang-Hun Lee, Gi-Young Huh, Do Youn Park
Korean Journal of Pathology.2013; 47(1): 28. CrossRef

Array-comparative Genomic Hybridization Analysis of Alveolar Soft Part Sarcoma.: Jeung Il Kim, Kyung Un Choi, Hyun Jeong Kang, Dong Hoon Shin, In Sook Lee, Tae Yong Moon, Won Taek Kim; Korean J Pathol. 2009;43(3):231-237.; DOI: https://doi.org/10.4132/KoreanJPathol.2009.43.3.231

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Abstract PDF: BACKGROUND
Alveolar soft part sarcomas (ASPSs) are rare, histologically distinctive soft tissue sarcomas of unknown origin. Although ASPSs are characterized by a specific alteration, der(17)t(X;17)(p11;q25), the entire spectrum of genetic events underlying the pathogenesis of ASPS is unclear. Using array-based comparative genomic hybridization (array-CGH), we examined the DNA copy number changes in ASPS.
METHODS
Array-CGH, composed of 4,030 clones, was performed in two samples of fresh frozen tumor tissues from a 29-year-old male and a 16-year-old female.
RESULTS
We identified 16 commonly altered chromosomal regions involving 25 genes. Eleven altered regions were located on chromosome Xp (Xp22.33, Xp22.11, Xp11.3, Xp11.3-Xp11.23, Xp22.2, Xp22.12, Xp22.31, Xp22.32, Xp21.1, Xp21.3, and Xp11.4). Additional regions with an increased copy number were observed at 1q25.1, 7q35, 12p12.1, and 17p11.2. Loss was found in only one region of chromosome 22q11.23. Several genes located within the amplified region of Xp included GYG2, ARSD, ARSE, ARSH, UBE1, USP11, PCTK1, ARAF, SYN1, TIMP1, XK, PDK3, PCYT1B, PHEX, ARX, RPS6KA3, TMSB4X, TMEM27, BMX, and KAL1.
CONCLUSIONS
This was the first application report of genome-wide copy number changes by BAC array-CGH in ASPSs. Our study showed unique genomic regions and new candidate genes that suggest a neural origin and are associated with tumor pathogenesis in ASPSs.

Analyses of Genetic Alterations in Breast Cancers by Comparative Genomic Hybridization.: Jin Man Kim, Young Mi Jeon, Young Hyeh Ko, Kyu Sang Song, Howe J Ree, Joo Seob Keum, Jae Hyuk Lee, Sun Hoe Koo; Korean J Pathol. 1999;33(8):603-613.

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Abstract PDF: Transformation and progression of breast cancer are thought to be caused by an accumulation of complex genetic alterations, but little is known about specific changes. In this study, the author has undertaken a genome-wide screening to detect genetic changes in 20 cases of breast cancer among Koreans, including 16 infiltrating ductal carcinomas, 2 medullary carcinomas, 1 invasive lobular carcinoma, and 1 borderline phyllodes tumor. Comparative genomic hybridization (CGH) was used to screen for DNA sequence gains and losses across all human chromosomes. Simultaneous immunohistochemical staining for c-erbB-2 (Her-2/neu), c-myc, cyclin D1, and p53 protein was done to make comparisons with nuclear grade and that with CGH results. Biotin-labeled tumor DNA and digoxigenin-labeled normal DNA were hybridized to normal metaphase cells. The fluorescence signals were captured by fluorescence microscope after detection by avidin-FITC and anti-digoxigenin rhodamine. Then, the ratio of fluorescence was calculated by an image analyzer. The immunohistochemical staining was done in paraffin-embedded tissue with an LSAB kit and avidin-biotin complex (ABC) method. The CGH results showed gains on chromosomes 8q (40%), 1q (30%), 17q (15%), 20q (15%), 18q (15%), 5p (15%), and 13q (15%). Deletions were on chromosomes 17p (45%) and 22q (20%). High-level amplifications (green/red ratio >1.5) were noted on chromosomes 1p31, 1q, 3q25-qter, 5p, 7q31-qter, 8q, 9p22-qter, 10p, 11p, 11q22-qter, 12p, 12q24, 14q21-qter, 15q23-qter, 17q, 18p, 18q12-qter, 20p, and 20q. By comparison with infiltrating ductal carcinoma, the two medullary carcinomas showed high-level amplification on chromosomes 1p31, 1q, 8q, 10p, 11p and 12p. c-erbB-2, c-myc, cyclin D1, and p53 protein expression was immunohistochemically detected in 9 of 20 (45%), 8 of 20 (40%), 10 of 20 (50%), and 13 of 20 (65%), respectively. The results indicate that the amplification on chromosome 8q, 1q and the deletions on chromosomes 17p and 22q are the most frequent genetic alterations in breast cancers among Koreans. The results reveal a different pattern of genetic alteration from previous studies. The CGH results were not correlated with the immunohistochemical profiles. The amplification pattern of medullary carcinomas was quite different from the pattern of infiltrating ductal carcinomas. The CGH was thought to be very useful in the screening of genetic alterations of solid tumors.

Genomic Imbalances in Ependymoma by Degenerate Oligonucleotide Primed PCR-Comparative Genomic Hybridization.: Sung Hye Park, Gi Jin Kim, Min Kyung Kim, Hanseong Kim, Yoen Lim Suh, Sun Hwa Park; Korean J Pathol. 2004;38(3):133-137.

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Abstract PDF: BACKGROUND
The most consistent chromosomal abnormality in ependymomas, is loss of 22q (17-75%) and gain of 1q (0-50%). However, significance of this abnormality is uncertain.
METHODS
Genomic imbalances in 27 Korean ependymomas, including 21 low grade ependymomas, 4 anaplastic and 2 myxopapillary ependymomas, were analyzed by degenerate oligonucleotide primed-PCR-comparative genomic hybridization.
RESULTS
Common gains were found in 17 (63%), 20q (59%), 9q34 (41%), 15q24-qter (33%), 11q13 (30%), 12q23 (26%), 7q23-qter (26%), 16q23-qter (30%), 19 (26%), and 1q32-qter (22%). DNA amplification was identified in 12 tumors (44%). Chromosomal loss was a less common occurrence in our study, but was found in 13q (26%), 6q (19%), and 3 (11%).
CONCLUSION
The recurrent gains or losses of the chromosomal regions which were identified in this study provide candidate regions that may be involved in the development and progression of ependymomas.

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