MRI联合DWI对结直肠癌病变的诊断意义

目的探讨分析MRI联合DWI对结直肠癌病变的诊断意义。方法选取2016年6月~2018年6月入住我院进行治疗的50例结直肠癌病变患者作为研究对象,根据随机数字表法将其分为两组,25例对照组患者采用MRI进行诊断,25例观察组采用MRI联合DWI进行诊断,两组在T分期可以分为T1~2期、T3期、T4期,在N分期分别N0期、N1期、N2期。对比两组患者诊断后的结果。结果观察组的T分期检出结果优于对照组,在临床上差异有统计学意义(P<0.05);观察组的N分期检出结果优于对照组,在临床上差异有统计学意义(P<0.05);两组检出率比较,在临床上差异有统计学意义(P<0.05)。结论MRI联合DWI能提高结直肠癌病变患者术前的检出率和术后T分期和N分期的符合率,在临床上具有较高的价值,在临床上可以推广应用。

溃疡性结肠炎直肠癌变一例

患者男性，53岁。因“反复便血2年余”于2014年6月25日入院。患者2年余前无明显诱因出现大便前后排暗红色血液，每次量约数毫升，大便1次／d，便质稀烂，无腹痛、肛门坠胀等症状。至当地医院就诊，予口服药物治疗（具体不详），治疗后大便成形，出血消失。3个月后无明显诱因再次出现便血，性质同前，每日排3—5次烂便，外院查肠镜提示：溃疡性结肠炎（全结肠型），遂至我院诊治。

溃疡性结肠炎上皮内瘤的进展研究

溃疡性结肠炎(ulcerative colitis,UC)属于病因不明结直肠慢性炎症,其可下调患者生活质量,且其难治性和易癌变特点同样给医学研究带来较大挑战。目前已知研究结果显示,炎症反应在肿瘤形成不同阶段中发挥较为重要作用,涉及肿瘤产生、生长、侵袭以及转移。UC上皮内瘤因极易转化成癌组织,故也被称为结肠癌前病变。深入探究与了解UC上皮内瘤转变为肿瘤细胞和分子机制,为临床创新治疗方案提供理论基础。基于此。本文就UC上皮内瘤最新研究进展予以综述。

家族性腺瘤性息肉病行预防性手术的临床效果观察

目的:对预防性手术在家族性腺瘤性息肉病中的临床效果进行观察分析。方法:选择家族性腺瘤性息肉病临床患者67例,对比分析行预防性手术患者和和未接受手术干预患者的预后情况。结果:行预防性手术组患者结直肠癌变的发生率明显低于未接受手术干预患者(P<0.05)。结论:合理的预防性手术治疗对于家族性腺瘤性息肉病患者并发结直肠癌变具有良好的预防效果,值得关注。

一天一粒 终结胃肠病

警惕：胃肠穿孔、便秘猝死、直肠癌变!胃酸、胃痛、胃胀,腹痛、腹胀、腹鸣、恶心呕吐、反复打嗝、口苦口臭、腹泻便秘、消化不良……你知道这是胃肠发出的求救信号吗？很多人都觉得不可思议,不就是个胃痛吗,怎么突然就变成胃穿孔了？不就是个肠炎吗,怎么就变成十二指肠溃疡了？不就是长期便秘吗,

Lack of CD44 variant 6 expression in rectal cancer invasive front associates with early recurrence

AIM: To investigate the prognostic value of CD44 variant 6 (CD44v6), a membranous adhesion molecule, in rectal cancer. METHODS: Altogether, 210 rectal cancer samples from 214 patients treated with short-course radiotherapy (RT, n = 90), long-course (chemo) RT (n = 53) or surgery alone (n = 71) were studied with immunohistochemistry for CD44v6. The extent and intensity of membranous and cytoplasmic CD44v6 staining, and the intratumoral membranous staining pattern, were analyzed.RESULTS: Membranous CD44v6 expression was seen in 84% and cytoplasmic expression in 81% of the cases. In 59% of the tumors with membranous CD44v6 expression, the staining pattern in the invasive front was determined as "front-positive" and in 41% as "front-negative". The latter pattern was associated with narrower circumferential margin (P = 0.01), infiltrative growth pattern (P < 0.001), and shorter disease-free survival in univariate survival analysis (P = 0.022) when compared to the "front-positive" tumors. CONCLUSION: The lack of membranous CD44v6 in the rectal cancer invasive front could be used as a method to identify patients at increased risk for recurrent disease.

Novel mutations and sequence variants in exons 3-9 of human T Cell Factor-4 gene in sporadic rectal cancer patients stratified by microsatellite instability

AIM： To establish the role of human T Cell Factor-4 （hTCF-4） gene exons 3-9 mutation status in association with sporadic rectal cancer with microsatellite instability （MSI）. METHODS： Microsatellite markers were genotyped in 93 sporadic rectal cancer patients. Eleven cases were found to be high-frequency MSI （MSI-H）. Sequence analysis of the coding region of the exons 3-9 of hTCF-4 gene was carried out for the 11 MSI-H cases and 10 controls （5 microsatellite stability （MSS） cases and 5 cases with normal mucosa）. The sequencing and MSI identification were used. RESULTS： Several novel mutations and variants were revealed. In exon 4, one is a 4-position continuous alteration which caused amino acid change from Q131T and S132I （391insA, 392 G 〉 A, 393 A 〉 G and 395delC） and another nucleotide deletion （395delC） is present in MSI-H cases （5/10 and 4/10, respectively） but completely absent in the controls.CONCLUSION： Novel mutations in exon 4 of hTCF-4 gene were revealed in this study, which might be of importance in the pathogenesis of sporadic rectal cancer patients with MSI-H.

Novel MLH1 frameshift mutation in an extended hereditary nonpolyposis colorectal cancer family

AIM： To present novel frameshift mutation c.31delC [p.L11X] in the MLH1 gene identified in an extended Bulgarian hereditary non-polyposis colorectal cancer （HNPCC） family and to analyze the molecular and clinical findings within the pedigree concerning the proposal of adequate individual prophylactic strategy for all mutation carriers.METHODS： The pedigree of the family consists of 42 members in four generations. Search for mutations in the MLH1 and hMSH2 genes was performed in the proband. After PCR amplification of all exons including flanking intronic regions, amplicons were directly sequenced.RESULTS： The mutation was found in nine from the thirteen pedigree members who signed informed consent to participate in the study. In three adenocarcinomas, microsatellite instability and lack of the MLH1 protein expression were detected. The only one tubulovillous adenoma analyzed was microsatellite stable and the MLH1 protein showed an intact staining.CONCLUSION： The newly described mutation c.31delC is HNPCC causative. Besides the typical clinical features of the syndrome, we found a specific pathologic manifestation such as moderate to high differentiated adenocarcinomas of the colon. One of the mutation carriers developed a benign giant cell soft tissue tumor, The primary tumor Iocalizatlons were frequently extracolonic and detailed yearly gastrointestinal and gynecological examinations have been proposed to the mutation carriers. We emphasize the importance of including the HNPCC genetic counseling and testing as well in the following surveillance of all patients at risk in the services covered by the health insurance in Bulgaria.

In vivo and in situ detection of colorectal cancer using Fourier transform infrared spectroscopy

AIM: Real-time and rapid Identification of the malignant tissue can be performed during or before surgical operation. Here we aimed to detect in vivo and in situ colorectal cancer by using Fourier transform infrared (FTIR) spectroscopy and fiber-optic technology. METHODS: A total of five patients with large intestine cancer were detected in vivo and in situ. Of them, three cases of colon cancer and one case of cecum cancer were detected intraoperatively and in vivo by using a FTIR spectrometer during surgical operation, and one case of rectum cancer was explored non-invasively and in vivo before the surgical operation. Normal and malignant colorectal tissues were detected in vivo and in situ using FTIR spectroscopy on the basis of fundamental studies. RESULTS: There were significant differences between FTIR spectra of normal and malignant colorectal tissues detected in vivo and in situ. Experimental results revealed that the spectral characteristics of normal and malignant tissues found in vivo and in situ were similar to those obtained from in vitro measurement in our previous fundamental research. CONCLUSION: FTIR fiber-optic attenuated total reflectance (ATR) spectroscopy can identify in situ and in vivo colorectal cancer. FTIR spectroscopie method with fiber optics is a non-invasive, rapid, accurate and in vivo cancer detection technique in clinical diagnosis.

Two novel germline mutations of MLH1 and investigation of their pathobiology in hereditary non-polyposis colorectal cancer families in China

AIM： To detect germline mutations of MLH1, and investigate microsatellite instability and expression of MLH1 in tumor tissues of hereditary non-polyposis colorectal cancer （HNPCC） with two novel germline mutations, and further investigate the pathobiology of the two novel mutations of MLH1. METHODS： RNA was extracted from the peripheral blood of 12 patients from 12 different families that fulfilled the Amsterdam 11 Criteria for HNPCC. Germline mutations of MLH1 were determined by RT-PCR, followed by cDNA sequencing analysis. PCR-GeneScan analysis was used to investigate microsatellite instability with a panel of five microsatellite markers （BAT26, BAT25, D5S346, D2S123 and mfd15）, along with immunohistochemical staining to detect the expression of MLH1 protein in two patients＇ tumor tissues with novel mutations. RESULTS： Three germline mutations were found in four patients, one of the mutations has previously been reported, but the other two, CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, have not been reported. The two patients＇ tumor tissues with novel mutations had high-frequency microsatellite instability that showed more than two unstable loci, and both tumors lost their MLH1 protein expression. CONCLUSION： The two novel germline mutations of MLH1 in HNPCC families i.e. CGC→TGC at codon 217 of exon 8 and CCG→CTG at codon 581 of exon 16, are very likely to have pathological significance.

BRAF, K-ras and BAT26 mutations in colorectal polyps and stool

AIM： To assess the feasibility of using BRAF, K-ras and BAT26 genes as stool-based molecular markers for detection of colorectal adenomas and hyperplastic polyps （HPs）. METHODS： We applied PCR-SSCP and direct sequencing to detect BRAF mutations of polyps and paired stool samples. Primer-mediated restriction fragment length polymorphism （RFLP） analysis and mutant-enriched PCR were used in detection of K-ras mutations of polyp tissues and paired stool samples respectively. BAT26, a microsatellite instability marker was examined by detection of small unstable alleles in a poly （A） repeat. RESULTS： No genetic alterations were detected in the 36 colonoscopically normal patients in either tissues or stools. BRAF, K-ras and BAT26 mutations were found in 4 （16%）, 10 （40%） and 3 （12%） of 25 adenoma tissues and among them, 75%, 80% and 100% of patients were observed to contain the same mutations in their corresponding stool samples. In HPs, mutations of BRAF and K-ras were detected in the tumor DNA of 2 （11.1%） and 8 （33.3%） of 18 patients respectively, all of whom had identical alterations in their stools. Taken together, the three genetic markers detected 15 （60%） of 25 adenomas and 8 （44.4%） of 18 HPs. The sensitivity of stool detection was 80% for adenomas and 100% for HPs with an overall specificity of 92% for adenomas and 100% for HPs. CONCLUSION： BRAF, K-ras and BAT26 genes have the potential to be molecular markers for colorectal adenomas and HPs, and can be used as non-invasive screening markers for colorectal polyps.

Low prevalence of germline hMSH6 mutations in colorectal cancer families from Spain

AIM: To investigate the prevalence and penetrance of hMSH6 mutations in Spanish HNPCC families that was negative for mutation in hMLH1 or hMSH2.METHODS: We used PCR-based DGGE assay and direct Sequencing to screen for hMSH6 gene in 91 HNPCC families.RESULTS: we have identified 10 families with germ-line mutations in the DNA sequence. These mutations included two intronic variation, three missense mutation, one nonsense mutation, and four silent mutations. Among the 10 germ-line mutations identified in the Spanish cohort,8 were novel, perhaps, suggesting different mutational spectra in the Spanish population. Detailed pedigrees were constructed for the three families with a possible pathogenic hMSH6 mutation. The two silent mutations H388H and L758L, detected in a person affected of colorectal cancer at age 29, produce loss of the wild-type allele in the tumor sample. Immunohistochemical analysis showed that expression of MSH6 protein was lost only in the tumors from the carriers of V878A and Q263X mutations.CONCLUSION: Altogether, our results indicate that disease-causing germ-line mutations of hMSH6 are very less frequent in Spanish HNPCC families.

KRAS mutation testing in metastatic colorectal cancer

The KRAS oncogene is mutated in approximately 35%-45% of colorectal cancers, and KRAS mutational status testing has been highlighted in recent years. The most frequent mutations in this gene, point substitutions in codons 12 and 13, were validated as negative predictors of response to anti-epidermal growth factor receptor antibodies. Therefore, determining the KRAS mutational status of tumor samples has become an essential tool for managing patients with colorectal cancers. Currently, a variety of detection methods have been established to analyze the mutation status in the key regions of the KRAS gene; however, several challenges remain related to standardized and uniform testing, including the selection of tumor samples, tumor sample processing and optimal testing methods. Moreover, new testing strategies, in combination with the mutation analysis of BRAF , PIK3CA and loss of PTEN proposed by many researchers and pathologists, should be promoted. In addition, we recommend that microsatellite instability, a prognostic factor, be added to the abovementioned concomitant analysis. This review provides an overview of KRAS biology and the recent advances in KRAS mutation testing. This review also addresses other aspects of status testing for determining the appropriate treatment and offers insight into the potential drawbacks of mutational testing.

Chinese Herbal Enema for Treatment of Tumors at the Middle and Late Stage

Since 1994, the Oncologic Department of the Henan Provincial TCM Hospital has used Chinese herbal enema for treatment of tumors at the middle and late stage with satisfactory therapeutic effects. The following are some examples.

Novel genetic variations of the p53R2 gene in patients with colorectal adenoma and controls

AIM: p53-Inducible ribonucleotide reductase small subunit 2 (p53R2) encodes a 351-amino-acid peptide, which catalyzes conversion of ribonucleoside diphosphates to the corresponding deoxyribonucleotides required for DNA replication and repair. A recent study reported that a point mutation (G/T) in the p53 binding sequence in a colon cancer cell line completely impaired p53R2 protein activity.METHODS: We screened the p53R2 gene coding regions and a regulatory region which contains a p53 binding sequence in 100 patients with colorectal adenoma and 100 control subjects using PCR, cold SSCP, and direct DNA sequencing.RESULTS: Although we did not identify genetic variation in all nine exons, four regulatory-region variants were found,of which three were single nucleotide polymorphisms (SNPs) (nt 1 789 C/G, nt 1 928 A/G, 1 933 T/C), and one was 20 bp insertion which replaced a ATTTT between nt 1 831 and 1 835. Additionally, we determined the frequency of these p53R2 variants in a recently concluded case-control study of incident sporadic colorectal adenomas (163 cases and 210 controls).CONCLUSION: Although more detailed functional characterizations of these polymorphisms remain to be undertaken, these polymorphic sites may be useful for identifying alleles associated with mis-splicing, additional transcript factors and, more generally, in cancer-susceptibility association studies.

Pedigree and genetic analysis of a novel mutation carrier patient suffering from hereditary nonpolyposis colorectal cancer

AIM： To screen a suspected Hungarian HNPCC family to find specific mutations and to evaluate their effect on the presentation of the disease. METHODS： The family was identified by applying the Amsterdam and Bethesda Criteria. Immunohistochemistry was performed, and DNA samples isolated from tumor tissue were evaluated for microsatellite instability. The identification of possible mutations was carried out by sequencing the hMLH1 and hMSH2 genes. RESULTS： Two different mutations were observed in the index patient and in his family members. The first mutation was located in exon 7, codon 422 of hMSH2, and caused a change from Glu to STOP codon. No other report of such a mutation has been published, as far as we could find in the international databases. The second mutation was found in exon 3 codon 127 of the hMSH2 gene, resulting in Asp→Ser substitution. The second mutation was already published, as a non-pathogenic allelic variation. CONCLUSION： The pedigree analysis suggested that the newly detected nonsense mutation in exon 7 of the hMSH2 gene might be responsible for the development of colon cancers. In family members where the exon 7 mutation is not coupled with this missense mutation, colon cancer appears after the age of 40. The association of these two mutations seems to decrease the age of manifestation of the disease into the early thirties.

Alpha-fetoprotein-producing rectum adenocarcinoma:A case report

A case with an Alpha-fetoprotein-producing(AFP-producing) carcinoma originating from the rectum was described.A 41-year-old man,who underwent a palliative surgery for rectal carcinoma,was diagnosed with occupying liver lesions and a remarkable AFP elevation(3484.61 ng/mL),and the AFP declined obviously 10 days after the palliative surgery.So we carried out a biopsy of the liver lesions.The histopathology was reported as low differentiation adenocarcinoma.The immunohistochemistry of the tumor cells via liver biopsy showed:Villin,CDX-2 was positive,Glypican-3 was partial positive,CK7,CK20,AFP,Hepatocyte were all negative.The initial histopathology was reported as an AFP-producing rectum adenocarcinoma with liver metastasis,which was a rare disease.So far,only 17 reports,none has been reported in China.Then,we summarize the characteristic of the disease:diagnosed with hepatic metastasis,raised serum AFP and a poor outcome,in addition to primary symptoms.This kind of disease is highly malignant.

Five-year oncologic outcomes and prognostic factors for locally advanced low rectal cancer after low anterior resection

Objective： The aim of the study is to investigate the longterm oncologic outcomes including local recurrence, distant metastases and overall survival （OS） for patients with low rectal cancer underwent low anterior resection （LAR） with total mesorectal excision （TME）, and to analyze the prognostic factors for them. Methods： Between January 2001 and December 2009, 147 patients with clinical stage II and III rectal cancers located 3-6 cm from the anal verge underwent LAR with TME without temporary diverting stoma. The median distal resection margin （DRM） was 1.0 （range, 0.3-5） cm. Anastomostic leakage occurred in 29 （19.7%） patients. Thirty patients received surgery alone, 20 patients received preoperative chemoradiotherapy （CRT）, 43 patients received postoperative CRT, and adjuvant chemotherapy was administered for 108 patients. The median cycle of adjuvant chemotherapy was 6 （range, 2-20） cycles. The median followup was 74.8 （range, 30.1-146.3） months. Results： In all patients, 5-year recurrence-free survival （RFS）, disease-free survival （DFS） and OS were 70.4%, 54.2% and 60.5%, respectively. Forty-three （29.3%） patients suffered local recurrence. Patients received preoperative CRT with a downstaging yp0/1 who had a better 5-year RFS, DFS and OS, which were 100%, 90.9%, and 90.9%, respectively. For patients with pathologic stage Ⅱ and stage Ⅲ, the 5-year RFS, DFS, and OS were 79.2% and 60.1%, 67.9% and 39.1%, 72.1% and 48.2%, respectively. On multivariable analysis, RFS was associated with anostomostic leakage, DFS was associated with anastomostic leakage and pathologic N stage, and OS was associated with anastomostic leakage, pathologic N and T stage. For patients with anastomostic leakage, the 5-year RFS, DFS, and OS were 51.7%, 32.4%, and 38.3%, respectively, which were worse than that for patients without anastomostic leakage, the latter were 75.2%, 59.7%, 65.7%, respectively （P 〈 0.05）. DRM and radiotherapy were associated with RFS on univariable analysis （P 〈 0.05）, but not on multivariable analysis. Tumor grade was prognostic factors for RFS and OS on univariable analysis, but not on multivariable analysis. The other factors including sex, age, tumor size and adjuvant chemotherapy were not associated with RFS, DFS and OS on univariable analysis. Conclusion： For patients with low rectal caner underwent LAR and TME, the long-term oncologic outcomes were satisfactory for patients with stage yp0/1, but not for patients with pathologic stage II1. Anastomositic leakage negatively affect long-term oncologic outcomes. Radiotherpy, adjuvant chemotherapy and distal resection margin were not associated with long-term outcomes.

Characters of normal prostate and prostate cancer lesions by transrectal contrast enhanced ultrasonography

Objective:The aim of the study was to observe the characters and differences of the inner and outer parts of prostate gland, the prostatic cancer lesions in inner and outer parts of prostate glands by transrectal contrast enhanced ultrasonography (TRCEUS) in order to provide valuable information for diagnosing of prostatic cancers. Methods: The ultrasound contrast agent was SonoVue (from Bracco Company, Italian). Instrument adopted Esaote Company Technos DU8 (transrectal ultrasonography). We observed the starting and ending times of transrectal contrast enhancement in the normal prostate inner gland group (16 cases), normal prostate outer gland group (16 cases), and the prostatic cancer lesions in inner gland group (8 cases) as well as in outer gland group (11 cases), respectively. Results: There was no significant difference in the starting time of the normal prostate glands between the inner gland and outer gland groups (P>0.05), likewise no significant difference between the cancer lesions in the inner gland and outer gland groups (P>0.05), but starting times of the cancer lesions in both groups were earlier than those of the normal prostate inner and outer glands groups (P<0.01). The ending time of enhancement was no significant difference among all groups (P>0.05). Conclusion: The earlier starting time of contrast enhancement in prostatic cancer lesions by TRCEUS has important value of distinguishing the cancer lesions from normal prostate glands. It is helpful to diagnose the prostatic cancer lesions.