• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제25권6호
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• pp.441-452
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• 2022

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

• Journal of Gastric Cancer
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• 제10권1호
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• pp.1-4
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• 2010

목적: 위점막 이형성증은 "위선암과 연관이 있거나 침습성 위선암으로 발전할 가능성이있는 명백한 종양성 상피"로정의되고 있으며 만성위염에서의 암 발생기전에서도 전암성 병변으로 여겨지고 있다. 이에 저자들은 내시경 겸자 생검에서 위점막 이형성증으로 진단된 환자에 대한 적절 한 치료방침을 결정하고자 본 연구를 시행하였다. 대상 및 방법: 2006년 1월부터 2008년 12월까지 3년 동안 내시경 겸자 생검으로 위점막 이형성증으로 진단받고 내시경 점막절제 또는 내시경 점막하 박리술을 시행한 148예를 대상으로 하였으며 내시경 겸자 생검 결과와 최종 조직병리 결과를 비교하였다. 결과: 148예의 환자 중 고도 이형성증 63예, 저도 이형성증 85예였으며 최종 병리 결과 위선암 49예(33.8%), 고도이형성증 40예(27.0%), 저도 이형성증 59예(39.9%)였다. 고도 이형성증으로 진단된 63예는 최종 조직병리 결과 위선암34예(54.0%), 고도 이형성증 20예(31.7%), 저도 이형성증 9예(14.3%)였으며 저도 이형성증으로 진단된 85예는 위선암 15예(17.6%), 고도이형성증 20예(23.5%), 저도이형성증 50예(58.8%)였다.결론: 내시경 겸자 생검 결과 위점막 이형성증으로 진단된 경우 고도 이형성증의 경우는 내시경을 이용한 점막절제 또는 점막하 박리술을 통한 절제술을 시행하고 저도이형성증의 경우 주기적인 감시 및 재생검 뿐 아니라 정확한 진단을 위한 내시경 점막절제 등이 고려되어야 할것이다.

• BMB Reports
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• 제37권6호
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• pp.671-675
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• 2004

The expression and clinicopathological significance of Quox-1 gene was studied in oral squamous cell carcinoma (OSCC). Immunocytochemistry and western blot analysis were used to examine the different expressions of Quox-1 protein in 114 OSCC specimens, 34 oral epithelial dysplasia specimens, and 16 normal oral mucosa specimens. RT-PCR and virtual Northern Blot were also used to examine the expression of Quox-1 mRNA. It was found that Quox-1 was not expressed in normal epithelium. However, as dysplastic lesions progressed Quox-1 expression increased (p < 0.01), and Quox-1 expression was not significantly different between severe dysplasia and highly differentiated OSCCs (p > 0.05). As the degree of differentiation decreased, Quox-1 positivity increased in OSCC (p < 0.01), and the rate of Quox-1 (81.58%) positivity in OSCC was higher than that in normal oral mucosa (p < 0.01). Our findings imply that the positive expression of Quox-1 is correlated with the histological classification of OSCCs. Thus, the expression of Quox-1 in OSCC may serve as a significant predicting factor of proliferative status and malignant degree, and it may also be a biological detection marker of oral mucosas initial cancer and of OSCC.

• Asian Pacific Journal of Cancer Prevention
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• 제17권2호
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• pp.519-525
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• 2016

Background: The objective of this study was to report the types and relative frequency of oral malignancies and precancer in the Jazan region of Saudi Arabia during the period 2009-2014. Materials and Methods: Pathology reports were retrieved from the archives of Histopathology Department, King Fahd hospital in Jazan. Demographic data on tobacco habits, clinical presentation and histologic grading of oral precancer and cancer cases were transcribed from the files. Results: 303 (42.7%) oral pre-malignant and malignant cases were found out of 714 oral biopsy lesions. A pathology diagnosis of squamous cell carcinoma (85.1%) was most frequent, followed by premalignant lesions/epithelial dysplasia (8.6%), verrucous carcinoma (3.3%) and malignancy of other histological types (3%) such as ameloblastic carcinoma, salivary gland malignancy and sarcomas. Oral squamous cell carcinoma was predominant in females with a male to female ratio of 1:1.9. Patient age ranged from 22 to 100 years with a mean of $65{\pm}13.9$. Almost 44.6% of oral cancer had occurred after 65 years of age. Only 16.3% cases were reported in patients younger than 50 years, predominantly females. The majority of female patients had the habit of using shammah with a long duration of usage for more than 45 years. Buccoalveolar mucosa (52.3%) was the common site of involvement followed by tongue/floor of the mouth (47.7%) and clinically presented mostly as ulceration/swelling clinically. Moderately differentiated tumours (53.9%) were common followed by well differentiated (32.2%) and poorly differentiated tumours (5.8%). The prevalence of oral verrucous carcinoma (3.3%) was comparatively low with an equal distribution in both males and females. Both bucco-alveolar mucosa and tongue were predominantly affected. Oral precancer/epithelial dysplasia (8.6%) was common in females with a shammah habit. Bucco-alveolar mucosa was commonly involved and clinically presented mostly as white/red patches. Most cases were mild followed by moderate and severe dysplasia. Tumours of other histological types (3%) include 1 ameloblastic carcinoma, 3 malignant salivary gland tumours and 5 sarcomas. Conclusions: In this study, it was found that oral cancers reported in the pathology service to be a common occurrence. This study reconfirms previous reports of the high burden of oral cancer in this population This indicates that conventional preventive programs focused on oral cancer are in need of revision. In addition, further research into identifying new risk factors and molecular markers for oral cancer are needed for screening high risk individuals.

• 치위생과학회지
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• 제5권4호
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• pp.199-204
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• 2005

51예의 구강 백반증과 149예의 편평태선의 임상적 발현 양상을 비교 분석하고 병리조직 소견에 따른 환자 예후를 추적하여 임상적 병리조직학적 차이점을 고찰하였다. 분석 결과, 연령 분포와 성별, 임상적 특징, 환자의 임상 증상, 상피 이형성 빈도, 임상 추적 관찰 결과 재발 여부 등에 있어 차이를 나타냈다. 구강 백반증과 편평태선의 임상적인 감별점은 구강백반증의 경우 각화증을 유발한 원인, 즉 협점막과 혀의 측면부위에 가해질 수 있는 만성적 자극, 흡연 등의 원인을 제거했을 때 소실되는지의 여부, 편평태선의 경우 전형적으로 양측성 발생과 다발성 병소, 통증이나 압통, 불쾌감과 작열감 등의 증상, 동반되는 피부 병소 등을 들 수 있다. 임상 진단에서 확진을 하지 못하는 경우는 조직 생검을 통하여 최종 진단을 내릴 수 있다.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• 제39권5호
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• pp.224-230
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• 2013

Objectives: Papilloma frequently develops as a benign tumor of the head and neck area, but its potential for malignant transformation has yet to be studied. This study aims to provide basic information for papillomas using the immunohistochemical staining of matrix metalloproteinase 2 (MMP-2) and human papilloma virus (HPV) 16 and 18. Materials and Methods: To evaluate the malignant transformation of papillomas, the selected tissue samples were serially diagnosed with pre-cancerous papilloma (with epithelial dysplasia, pseudo-epitheliomatous hyperplasia) or malignant lesion (squamous cell carcinoma, SCC) after the first diagnosis (squamous papilloma, inverted papilloma). The selected tissues were stained with an antibody to MMP-2 and HPV 16-E7, HPV 18-L1. A statistical analysis was performed according to each transformation step. Results: The epithelial layer of papilloma and pre-cancerous papilloma lesions had a similar MMP-2 expression, but that of the malignant lesion had a significantly increased MMP-2 expression. HPV 16 and 18 infection rates were 28.6%, 33.3% and 63.6% in papillomas, pre-cancerous papilloma lesions, and SCC. Conclusions: A relatively high MMP-2 expression and HPV 16 or 18 infection of papillomas may be associated with early events in the multistep processes of malignant transformation of papillomas.

• 대한치과의사협회지
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• 제50권12호
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• pp.732-742
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• 2012

White lesions of the oral mucosa are a common clinical finding that often present first to general dentist. Some white lesion may have possibility of malignancy. Leukoplakia is the most common "potentially malignant disorder" of the oral mucosa. Leukoplakia is at present defined as "A white plaque of questionable risk having excluded (other) known disease or disorders that carry no increased risk for cancer.". Therefore, it is important for general dentist to be familiar to clinical differential diagnosis of leukoplakia from the known white lesions such as candidiasis, lichen planus, leukoedema, frictional keratosis, and so on. It is also important to decide whether such lesions require further investigation through the biopsy. As a result of biopsy, the presence of epithelial dysplasia in the leukoplakia is still the strongest predictor of future malignant transformation. In this article, oral white lesions that must be differentiated from potentially malignant disorders or early invasive squamous cell carcinoma will be reviewed together with presenting clinical cases.

• Journal of Digestive Cancer Research
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• 제4권2호
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• pp.83-87
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• 2016

Till now, two distinct epithelial lesions, dysplasia and adenoma, are currently recognized as premalignant stages of gallbladder (GB) carcinogenesis. In these two carcinogenesis pathways, GB stones and polyps are regarded as one of the most important risk factors of GB carcinoma respectively. Although there still remain controversies for the indication of prophylactic cholecystectomy for GB stones and polyps due to lack of high-level evidence, the present review demonstrated that patients who have GB stones with more than 3 cm size, chronic typhoid carriers, porcelain GB, or anomalous pancreaticobiliary ductal union and patients with more than 1 cm sized GB polyp would be recommended prophylactic cholecystectomy.

• 대한기관식도과학회:학술대회논문집
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• 대한기관식도과학회 1993년도 제27차 학술대회 초록집
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• pp.89-89
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• 1993

후두의 상피세포에서 발생하는 질환중 전암성병변은 이형성(dysplasia)과 상피내암(carcinoma in situ)등이 있으며, 이들은 진행하게되면 침윤성 악성병변으로 전환하게 된다. 따라서 전암성 병변의 정도를 정확히 구분 및 파악함으로써 침윤성 암종으로의 전환여부를 미리 예견한다는 것은 악성 후두질환의 병태파악 및 예방에 중요한 역할을 차지한다. 이에 저자들은 최근 후두경하에 절제생검을 시행한 26례(침윤성 편평상피세포암 14례, 상피증식증 5례, 성대결절 7례)를 대상으로, 22례에서는 생검조직을 touch imprint법으로 도말하여 Feulgen염색한 후 CAS 200 화상분석기로 DNA함량분석을 시행하였고, 전례에 대하여 파라핀 포매조직에서 Ki-67 단크론성 항체(M1B1)를 이용하여 면역효소염색을 시행한 후 화상분석기로 양성표현율을 측정분석하여 다음과 같은 결과를 얻었다. 1) Ki-67 양성표현율은 침윤성 암종에서 31.65$\pm$11.59%, 상피증식증에서는 20.14$\pm$3.38%, 성대결절에서는 11.66$\pm$3.02%이었다. 2) 핵산지수(DNA index)는 침윤성 암종의 경우 비배수성이 10례 중 7례(70%), 상피증식증에서는 5례중 2례(40%), 성대결절에서는 7례 모두 이배수성을 보였다. 3) DNA함량분석에서 5기와 G2/M기를 합한 증식지수(PI)는 침윤성 암종에서 23.42$\pm$11.33%, 상피증식증에서는 13.09$\pm$10.90%, 성대결절에서는 4.50$\pm$1.19%로 침윤성 암종에서 가장 높았다. 이상의 성적에서 성대의 생검조직과 같은 미세조직으로부터도 DNA함량검사와 함께 Ki-67 양성표현율을 측정함으로써 전암성병변의 악성화 가능성 정도를 예견할 수 있었으며, 악성종양 환자의 예후판정에 도움을 얻을 수 있으리라 생각된다.

• Journal of Oral Medicine and Pain
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• 제24권2호
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• pp.145-161
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• 1999

The proto-oncogene bcl-2 confers a survival advantage to cells by blocking programmed cell death (apoptosis). Overexpression of bcl-2 probably plays a role in tumorigenesis, and the expression of the bcl-2 protein has been investigated in many kinds of tumors. An increased expression of nitric oxide synthetase(NOS) has been observed in human colon cancer cell lines as well as in human gynecological, breast, and CNS tumors. However there have been only a few reports on the expression of bcl-2 and $NOS_2$ in oral white lesions and cancer. The aim of this study was to investigate the relationship between the expression of Bcl-2 and $NOS_2$ and several pathological parameters such as histological types and layers. We reported desregulation of bcl-2 and $NOS_2$ expression during progression from oral white lesion, lichen planus and leukoplakia to squamous cell carcinoma. The obtained results were as follows: 1. Immunohistochemical analysis with monoclonal antibodies to bcl-2 oncoprotein and $NOS_2$ in formalin-fixed paraffin-embedded tissue sections revealed that bcl-2 expression is restricted to the basal cell layer and $NOS_2$ was mild expressed only in subepithelial inflammatory cells in normal human mucosa. There wasn't specific finding of those in lichen planus and leukoplakia. 2. Bcl-2 immunoreactivity in severe epithelial dysplasia or CIS occurs throughout the epithelium, $NOS_2$ reactivity in most superficial layer were noted. 3. In well-differentiated squamous cell carcinomas, mostly bcl-2 was overexpressed. In moderated and poor squamous cell carcinomas, the expression of $NOS_2$ was increased and that of bcl-2 was decreased. 4. The immunoreactivity of bcl-2 was 12.5% of normal mucosa, 30% of leukoplakia, 44% of lichen planus and 67% of carcinoma in situ. In carcinoma, those were 43%, 50% and 67% according to differentiation, respectively. 5. The immunoreactivity of $NOS_2$ was 25% of normal mucosa, 70% of leukoplakia, 78% of lichen planus and 100% of carcinoma in situ and epithelial dysplasia. In carcinoma, those were higher in moderated(100%) and poor(83%) squamous cell carcinomas than in well differentiated type(71%). 6. The expression of bcl-2 and $NOS_2$ by Western blot was increased highly in lichen planus and leukoplakia. Therefore, the expression of bcl-2 was increased in the white and precancerous lesions and that was decreased by differentiation of carcinoma. However, $NOS_2$ immunoreactivity in carcinoma in situ was lower than those in moderated and poor squamous cell. These findings suggest that the interaction of bcl-2 and $NOS_2$ may be roled importantly in growth and development of carcinoma.