1.Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome.
Do Hee AHN ; Jung Hee RHO ; Hann TCHAH ; In Sang JEON
Korean Journal of Pediatrics 2016;59(1):40-42
Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.
Adolescent*
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Child
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Colonic Neoplasms
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Colorectal Neoplasms*
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Colorectal Neoplasms, Hereditary Nonpolyposis*
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Female*
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Heart Defects, Congenital
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Humans
2.Clinical analysis of hereditary nonpolyposis colorectal cancer.
Jeong Meen SEO ; Jae Gahb PARK ; Kuk Jin CHOE ; Jin Pok KIM
Journal of the Korean Society of Coloproctology 1992;8(2):111-119
No abstract available.
Colorectal Neoplasms, Hereditary Nonpolyposis*
3.Hereditary nonpolyposis colorectal cancer: a case report.
Jun Young KIM ; Heung Dae KIM ; Kwang Yun KIM
Journal of the Korean Society of Coloproctology 1992;8(3):287-290
No abstract available.
Colorectal Neoplasms, Hereditary Nonpolyposis*
4.Hereditary nonpolyposis colorectal cancer: report of one case.
Chang Hwa JUNG ; Young Cheol LEE ; Dong Kun KIM ; Sung KIM ; Won Jin CHOI
Journal of the Korean Society of Coloproctology 1992;8(3):297-302
No abstract available.
Colorectal Neoplasms, Hereditary Nonpolyposis*
5.Hereditary nonpolyposis colorectal cancer: report of one case.
Jeong Meen SEO ; Jae Gahb PARK ; Sang Joon KIM ; Jin Pok KIM
Journal of the Korean Society of Coloproctology 1991;7(2):155-162
No abstract available.
Colorectal Neoplasms, Hereditary Nonpolyposis*
6.The clinical, endoscopic and histopathological features of the rectal-sigma colorectal polyp
Journal of Practical Medicine 2002;435(11):30-34
175 patients with 224 rectal sigma colorectal-polyps in ages of 18 months - 77 ages were found by the endoscopy or the rectal-colorectal operation. The ratio of male/female was 1.92. The main and mark symptom is movement total blood (86.3%) single polyp: 80.8%, the small and medium polyps: 87%, polyps with peduncle: 67.9%, gland polyp: 70.9%, polyp changed to cancer: 7.6%.The large polyps without peduncle, with rough surface account for the severe displasia and high rate of changing to cancer
Colorectal Neoplasms, Hereditary Nonpolyposis
8.Clinicopathologic Characteristics of Left-Sided Colon Cancers with High Microsatellite Instability.
Sang Kyum KIM ; Junjeong CHOI ; Hyun Ki KIM ; Young Nyun PARK ; Si Young SONG ; Hoguen KIM
Korean Journal of Pathology 2009;43(5):428-434
BACKGROUND: High microsatellite instability (MSI-H) colorectal carcinomas (CRCs) with numerous mutations in the microsatellite sequence are characterized by a right-sided preponderance, frequent peritumoral and intratumoral lymphocytic infiltration, and frequent mucin production. However, no study has correlated anatomic site and type of genetic changes with clinicopathologic changes. METHODS: We analyzed the histopathologic features of 135 MSI-H CRCs and compared them to 140 microsatellite stable (MSS) CRCs. Histopathologic changes in MSI-H were further analyzed according to anatomic sites and genetic changes. RESULTS: MSI-H CRCs showed previously reported clinicopathologic findings; a right-sided preponderance, an increased number of mucinous carcinomas, and peritumoral lymphoid reactions (p<0.001 for each variable). Increased serum CEA levels showed an MSS CRC preponderance (p=0.013). We further analyzed the histologic differences between right- and left-sided MSI-H tumors. We found that MSI-H CRCs on both sides had similar clinicopathologic findings, except for higher tumor stage (p=0.048) and less frequent abnormal CEA levels in left-sided MSI-H tumors (p=0.027). We found that not all clinicopathologic features were different between hereditary nonpolyposis colorectal cancers (HNPCCs) and sporadic MSI-H CRCs. CONCLUSIONS: These findings indicate that MSI-H CRCs of the left colon have similar clinicopathologic characteristics as right-sided MSI-H CRCs. We did not find any significant clinicopathological difference between HNPCCs and sporadic MSI-H CRCs.
Adenocarcinoma, Mucinous
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Calcium Hydroxide
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Colon
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Colonic Neoplasms
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Colorectal Neoplasms
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Colorectal Neoplasms, Hereditary Nonpolyposis
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Microsatellite Instability
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Microsatellite Repeats
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Mucins
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Zinc Oxide
9.hMLH1 promoter methylation and BRAF mutations in high-frequency microsatellite instability colorectal cancers not fulfilling the revised Bethesda guidelines.
Sang Jin KIM ; Hyoung Ran KIM ; Seok Hyung KIM ; Ji Hye HAN ; Yong Beom CHO ; Seong Hyeon YUN ; Woo Yong LEE ; Hee Cheol KIM
Annals of Surgical Treatment and Research 2014;87(3):123-130
PURPOSE: Sporadic colorectal cancers with high-frequency microsatellite instability (MSI-H) are related to hypermethylation of mismatch repair (MMR) genes and a higher frequency of BRAF mutations than Lynch syndrome. We estimated the feasibility of hereditary colorectal cancer based on hMLH1 methylation and BRAF mutations. METHODS: Between May 2005 and June 2011, we enrolled all 33 analyzed patients with MSI-H cancer (male:female, 23:10; mean age, 65.5 +/- 9.4 years) from a prospectively maintained database that didn't match Bethesda guidelines and who had results of hMLH1 methylation and BRAF mutations. RESULTS: Among the 33 patients, hMLH1 promoter methylation was observed in 36.4% (n = 12), and was not significantly related with clinicopathologic variables, including MLH1 expression. BRAF mutations were observed in 33.3% of the patients (n = 11). Four of 11 and five of 22 patients with MSI-H colon cancers were BRAF mutation (+)/hMLH1 promoter methylation (-) or BRAF mutation (-)/hMLH1 promoter methylation (+). Of the 33 patients, 21.2% were BRAF mutation (+)/hMLH1 promoter methylation (+), indicating sporadic cancers. Seventeen patients (51.5%) were BRAF mutation (-)/hMLH1 promoter methylation (-), and suggested Lynch syndrome. CONCLUSION: Patients with MSI-H colorectal cancers not fulfilling the Bethesda guidelines possibly have hereditary colorectal cancers. Adding tests of hMLH1 promoter methylation and BRAF mutations can be useful to distinguish them from sporadic colorectal cancers.
Colonic Neoplasms
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Colorectal Neoplasms*
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Colorectal Neoplasms, Hereditary Nonpolyposis
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DNA Mismatch Repair
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Humans
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Methylation*
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Microsatellite Instability*
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Prospective Studies
10.Genetic Instability and Mutations of Mismatch Repair (MMR) and p53 Gene in Colorectal Cancers with Multiple Polyps and Sporadic Colorectal Cancers.
Sung Won CHUN ; Suk Kyun CHANG
Journal of the Korean Society of Coloproctology 2002;18(6):353-362
PURPOSE: General conceptions of carcinogenic mechanisms by recent reports are ras-p53 gene pathway in sporadic colorectal cancers (SCC), MMR gene pathway in hereditary nonpolyposis colorectal cancer (HNPCC) and APC gene in familial adenomatous polyposis (FAP). But in the colorectal cancer with multiple polyps (CCMP), the carcinogenic pathway is not still defined exactly. In order to find out the which carcinogenic pathway control the CCMP and SCC, genetic instability were studied in CCMP and SCC. METHODS: In this study, genetic instability on D2S123, D3S1029, D5S107, D6S87 and AP delta3 foci and gene mutations of hMLH1 (exon 2, 16, 19), hMSH2 (exon 11, 12, 13, 14) gene of MMR gene, p53 gene (exon 5, 6, 7, 8, 9) were studied on the 60 DNA samples of CCMP (30 cases) and SCC (30 cases). RESULTS: 1. Observed positive genetic instability was higher in CCMP (30%) than SCC (20%), and was higher in right colon cancers (33%) than left colon cancers (23%) or rectal cancers (17%), but not significant statisitically. And observed positive genetic instability was lower in moderate differentiated cancers (16%) than well (67%) or poorly (60%) differentiated cancers (P=0.005). 2. Any mutations of hMLH1 and hMSH2 gene of MMR gene were not observed in both of CCMP and SCC, but 3 cases (2 CCMPs and 1 SCC) point mutations of intron of hMSH2 gene, which were higher in positive genetic instability than negative (P=0.002). 3. This 3 cases point mutations were C for T which were on 6th bases upstream from codon 669. 4. From the results of SSCP for nucleotide sequencing of p53 gene, the abnormal bands were observed in 30% (9 of 30) of CCMP and SCC. Also the abnormal bands were observed in both of positive or negative genetic instability without differences. CONCLUSIONS: With above results the authors suggested that the mechanism of genetic instability and mutations of p53 gene strongly affect the mechanism of carcinogenesis in SCC and CCMP. And there are relationship between genetic instability and point mutation at intron region of hMSH2 gene. However further evaluation and research is needed to establish relation between APC gene and other different kind of MMR gene.
Adenomatous Polyposis Coli
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Carcinogenesis
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Codon
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Colonic Neoplasms
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Colorectal Neoplasms*
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Colorectal Neoplasms, Hereditary Nonpolyposis
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DNA
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DNA Mismatch Repair*
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Fertilization
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Genes, APC
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Genes, p53*
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Introns
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Point Mutation
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Polymorphism, Single-Stranded Conformational
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Polyps*
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Rectal Neoplasms