1.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
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.
2.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
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.
3.Colorectal cancer with a germline BRCA1 variant inherited paternally: a case report
Kyoung Min KIM ; Min Ro LEE ; Ae Ri AHN ; Myoung Ja CHUNG
Journal of Pathology and Translational Medicine 2024;58(6):341-345
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.
4.A Nationwide Study on HER2-Low Breast Cancer in South Korea: Its Incidence of 2022 Real World Data and the Importance of Immunohistochemical Staining Protocols
Min Chong KIM ; Eun Yoon CHO ; So Yeon PARK ; Hee Jin LEE ; Ji Shin LEE ; Jee Yeon KIM ; Ho-chang LEE ; Jin Ye YOO ; Hee Sung KIM ; Bomi KIM ; Wan Seop KIM ; Nari SHIN ; Young Hee MAENG ; Hun Soo KIM ; Sun Young KWON ; Chungyeul KIM ; Sun-Young JUN ; Gui Young KWON ; Hye Jeong CHOI ; So Mang LEE ; Ji Eun CHOI ; Ae Ri AN ; Hyun Joo CHOI ; EunKyung KIM ; Ahrong KIM ; Ji-Young KIM ; Jeong Yun SHIM ; Gyungyub GONG ; Young Kyung BAE
Cancer Research and Treatment 2024;56(4):1096-1104
Purpose:
Notable effectiveness of trastuzumab deruxtecan in patients with human epidermal growth factor receptor 2 (HER2)–low advanced breast cancer (BC) has focused pathologists’ attention. We studied the incidence and clinicopathologic characteristics of HER2-low BC, and the effects of immunohistochemistry (IHC) associated factors on HER2 IHC results.
Materials and Methods:
The Breast Pathology Study Group of the Korean Society of Pathologists conducted a nationwide study using real-world data on HER2 status generated between January 2022 and December 2022. Information on HER2 IHC protocols at each participating institution was also collected.
Results:
Total 11,416 patients from 25 institutions included in this study. Of these patients, 40.7% (range, 6.0% to 76.3%) were classified as HER2-zero, 41.7% (range, 10.5% to 69.1%) as HER2-low, and 17.5% (range, 6.7% to 34.0%) as HER2-positive. HER2-low tumors were associated with positive estrogen receptor and progesterone receptor statuses (p < 0.001 and p < 0.001, respectively). Antigen retrieval times (≥ 36 minutes vs. < 36 minutes) and antibody incubation times (≥ 12 minutes vs. < 12 minutes) affected on the frequency of HER2 IHC 1+ BC at institutions using the PATHWAY HER2 (4B5) IHC assay and BenchMark XT or Ultra staining instruments. Furthermore, discordant results between core needle biopsy and subsequent resection specimen HER2 statuses were observed in 24.1% (787/3,259) of the patients.
Conclusion
The overall incidence of HER2-low BC in South Korea concurs with those reported in previously published studies. Significant inter-institutional differences in HER2 IHC protocols were observed, and it may have impact on HER2-low status. Thus, we recommend standardizing HER2 IHC conditions to ensure precise patient selection for targeted therapy.
5.Malignant melanoma associated with a plaque-type blue nevus of the cheek: a case report
Yoon Kyu CHUNG ; Min-Seok KIM ; Jin Yong SHIN ; Nae-Ho LEE ; Ae Ri AN ; Si-Gyun ROH
Archives of Craniofacial Surgery 2023;24(2):78-82
Blue nevi, which are characterized by collections of pigment-producing melanocytes in the dermis, have a variety of clinicopathological characteristics. Plaque-type blue nevus (PTBN) is a variant of blue nevi. PTBN presents at birth or arises in early childhood, and it shows a combination of the features found in common blue nevus and cellular blue nevus. It is typically found on the dorsal surface of the hands and feet or on the head and neck, and it is usually benign and stable over time. However, reports have occasionally described malignant melanomas developing in or associated with a PTBN. Malignant blue nevi are most commonly found on the scalp. We report the case of an 88-year-old woman with a malignant melanoma associated with a PTBN of the cheek.
6.TRPC expression in human periodontal ligament cells and the periodontal tissue of periodontitis mice: a preliminary study
Aeryun KIM ; Ae Ri KIM ; Yeong‑Eui JEON ; Yun‑Jung YOO ; Yu‑Mi YANG ; Eun‑Jung BAK
Laboratory Animal Research 2023;39(3):200-211
Background:
Transient receptor potential canonical (TRPC) channels are non-selective cationic channels with perme‑ ability to Ca2+ and Na+ . Despite their importance, there are currently few studies on TRPC in the periodontal ligament (PDL) and bone cells in the dental field. To provide biological information regarding TRPC in PDL cells and periodontal tissue, we evaluated TRPC channels expression in the osteoblast differentiation of PDL cells and periodontitis-induced tissue. Human PDL cells were cultured in osteogenic differentiation media for 28 days, and the expression of Runx2, osteocalcin (OCN), and TRPC1, 3, 4, and 6 was evaluated by real-time PCR. In ligature-induced periodontitis mice, the alveolar bone and osteoid areas, the osteoclast number, and the expression of Runx2, OCN, TRPC3, and TRPC6 was evaluated by H&E staining, TRAP staining, and immunohistochemistry, respectively.
Results:
In the PDL cell differentiation group, TRPC6 expression peaked on day 7 and TRPC3 expression generally increased during differentiation. During the 28 days of periodontitis progression, alveolar bone loss and osteoclast numbers increased compared to the control group during the experimental period and the osteoid area increased from day 14. TRPC6 expression in the periodontitis group increased in the PDL area and in the osteoblasts compared to the control group, whereas TRPC3 expression increased only in the PDL area on days 7 and 28.
Conclusions
These results indicate changes of TRPC3 and TRPC6 expression in PDL cells that were differentiating into osteoblasts and in periodontitis-induced tissue, suggesting the need for research on the role of TRPC in osteo‑ blast differentiation or periodontitis progression.
7.Effects of GV1001 on Language Dysfunction in Patients With Moderate-to-Severe Alzheimer’s Disease: Post Hoc Analysis of Severe Impairment Battery Subscales
Hyuk Sung KWON ; Seong-Ho KOH ; Seong Hye CHOI ; Jee Hyang JEONG ; Hae Ri NA ; Chan Nyoung LEE ; YoungSoon YANG ; Ae Young LEE ; Jae-Hong LEE ; Kyung Won PARK ; Hyun Jeong HAN ; Byeong C. KIM ; Jinse PARK ; Jee-Young LEE ; Kyu-Yong LEE ; Sangjae KIM
Dementia and Neurocognitive Disorders 2023;22(3):100-108
Background:
and Purpose: The efficacy and safety of GV1001 have been demonstrated in patients with moderate-to-severe Alzheimer’s disease (AD). In this study, we aimed to further demonstrate the effectiveness of GV1001 using subscales of the Severe Impairment Battery (SIB), which is a validated measure to assess cognitive function in patients with moderate-tosevere AD.
Methods:
We performed a post hoc analysis of data from a 6 month, multicenter, phase 2, randomized, double-blind, placebo-controlled trial with GV1001 (ClinicalTrials.gov, NCT03184467). Patients were randomized to receive either GV1001 or a placebo for 24 weeks. In the current study, nine subscales of SIB—social interaction, memory, orientation, language, attention, praxis, visuospatial ability, construction, and orientation to name— were compared between the treatment (GV1001 1.12 mg) and placebo groups at weeks 12 and 24. The safety endpoints for these patients were also determined based on adverse events.
Results:
In addition to the considerable beneficial effect of GV1001 on the SIB total score, GV1001 1.12 mg showed the most significant effect on language function at 24 weeks compared to placebo in both the full analysis set (FAS) and per-protocol set (PPS) (p=0.017 and p=0.011, respectively). The rate of adverse events did not differ significantly between the 2 groups.
Conclusions
Patients with moderate-to-severe AD receiving GV1001 had greater language benefits than those receiving placebo, as measured using the SIB language subscale.
8.Effects of Job Embeddedness, Professional Self-concept, and Work-life Balance on Clinical Nurses’ Intention to Stay
Journal of Korean Academy of Nursing Administration 2023;29(4):353-362
Purpose:
This study aimed to assess the influence of job embeddedness, professional self-concept, and work-life balance on clinical nurses’ workplace retention intention.
Methods:
A descriptive cross-sectional survey was conducted from July 27 to August 2, 2022, involving 296 nurses at a university hospital in Seoul. The questionnaire-based data collected were analyzed using t-tests, one-way ANOVA, Pearson's correlation coefficients, and multiple regression.
Results:
The mean score for intention to stay is 4.92±1.05 out of 8. The mean scores for job embeddedness, professional self-concept, and work-life balance were 2.91±0.48 out of 5, 2.61±0.28 out of 4, and 3.10±0.71 out of 5, respectively. Job embeddedness (β=.17, p=.002) and professional self-concept (β=.42, p<.001) were significantly associated with clinical nurses’ intention to stay in their workplace. Specifically, the “community suitability” subfactor of job embeddedness (β=.16, p=.003) and the “satisfaction” subfactor of professional self-concept (β=.58, p<.001) were significantly related to nurses’ intention to stay. No significant relationship was found between work-life balance and intention to stay.
Conclusion
Nurses’ job embeddedness and professional self-concept significantly affected their intention to stay. Therefore, fostering community bonding outside the organization and increasing professional satisfaction are suggested to increase clinical nurses’ intentions to stay.
9.Management of complicated crown fracture by tooth fragment reattachment with fiber post: a case report
Yu-Ri KIM ; Kyoung-Hwa JUNG ; Sung-Ae SON ; Jeong-Kil PARK
Journal of Dental Rehabilitation and Applied Science 2021;37(4):251-258
Dental trauma is very common in children and relatively young people, with the line of treatment depending on the time elapsed, age of the child, and tooth maturity. If the fractured segment is available and there is close approximation of the segment to the remaining tooth, reattachment of the fractured segment is a feasible option. This treatment offers several advantages, including the reestablishment of function, aesthetics, shape, shine and surface texture, in addition to the original contour and alignment of the teeth. The following cases present two different complex crown fracture cases that were treated using tooth fragment reattachment with fiber-reinforced composite post.
10.Stabilization of Lipid Lamellar Bilayer Structure of Stratum Corneum Modulated by Poly (2-methacryloyloxyethyl phosphorylcholine) in Relation to Skin Hydration and Skin Protection
Ae-Ri Cho LEE ; Heekyung MOON ; Kazuhiko ISHIHARA
Tissue Engineering and Regenerative Medicine 2021;18(6):953-962
BACKGROUND:
One crucial factor in skin tissue engineering is to understand the hydration and barrier property of skin. We investigated the skin hydration and stabilization strategy of inter-lamellar structure of stratum corneum (SC) using poly (2-methacryloyloxyethyl phosphorylcholine) (PMPC).
METHODS:
The unique hydration and stabilization potency of PMPC on the barrier function of the SC examined using freshly excised hairless mouse skin as a model membrane and the relationship between the stabilization of the lipid lamellar bilayer (LLB) and its enhanced water holding capacity was established.
RESULTS:
Differential scanning calorimeter based on the phase-transition temperature of lipid domain of SC demonstrated that PMPC stabilized the LLB. The ratio of the heat of lipid phase transition (△H) of SC exposed to water and PMPC for 24 h was 1.51. X-ray crystallography showed the presence of well- organized lipids in intercellular membranes exhibiting short and long periodicity of lamellar phases. The peak at 4.4 nm attributed to the long periodicity phase (LPP) was missing in water-treated SC, where, the presence of 4.2- 4.4 nm peak in PMPC treated SC indicated that PMPC stabilized LPP. Transmission electron microscopy study demonstrated that the LLB structure became more rigid and orderly in PMPC treated SC.
CONCLUSION
The unique ion paired structure of PMPC enhances the barrier function of the SC by stabilizing LLB structure and hydration by inducing weakly bound water. The unique hydration state and stabilization effect from extended water exposure could provide a valuable information to prepare reliable artificial skin matrix and skin tissue.

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