Y Moriya

National Cancer Center, Tokyo, Tokyo-to, Japan

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Publications (66)174.17 Total impact

  • Article: Cecal schwannoma with laparoscopic wedge resection: report of a case.
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    ABSTRACT: Schwannomas of the large intestine are relatively rare. Here, we present a case of schwannoma of the cecum in a 59-year-old woman that was successfully resected by laparoscopic wedge resection. In a medical checkup, a colonoscopy revealed a 2 cm submucosal lesion, without mucosal changes, located in the cecum wall contralateral to Bauhin's valve. Abdominal contrast CT and contrast MRI indicated a smooth-surfaced, semi-round tumor of about 2 cm that gave an enhanced homogeneous signal in the cecum. Laparoscopic wedge resection was performed after the diagnosis of benign submucosal tumor. The lesion was 2.5 × 2.0 cm, was histologically composed of spindle neoplastic cells arranged in cords, was positive for S-100 and vimentin, and was diagnosed as schwannoma. The details of this case are reported herein and focus on the successful application of laparoscopic wedge resection for treatment of the colonic submucosal lesion.
    Asian Journal of Endoscopic Surgery 11/2011; 4(4):178-80.
  • Article: A superficial early colitic cancer that resembled a laterally spreading tumor on chromoendoscopy.
    Endoscopy 09/2008; 40 Suppl 2:E130-1. · 5.21 Impact Factor
  • Article: Clinicopathological significance of fibrous tissue around fixed recurrent rectal cancer in the pelvis.
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    ABSTRACT: Fibrous tissue around a locally recurrent rectal tumour is an interesting histological feature, but its clinicopathological significance has not been investigated. This retrospective study examined clinicopathological findings in 48 patients who underwent curative total pelvic exenteration with distal sacrectomy (TPES) between 1992 and 2004. Data were analysed with respect to fibrosis around the recurrent tumour, categorized into one of three groups: no fibrosis (f0), partial fibrosis (f1) or circumferential fibrosis (f2). Ten, 17 and 21 patients had f0, f1 and f2 fibrosis respectively, with 5-year survival of none, four and eight patients respectively. The overall survival of patients with circumferential fibrosis was significantly better than that in patients with no fibrosis (P = 0.003). Univariable analysis showed that a high level of sacrectomy (P = 0.036), absence of lymphatic invasion (P = 0.031) and circumferential fibrosis (P = 0.039) were significantly associated with better overall survival. In multivariable analysis, circumferential fibrosis (P = 0.031) and low serum carcinoembryonic antigen levels (P = 0.044) were independent factors for a favourable outcome. The outcome of patients with locally recurrent rectal cancer after curative TPES appears to be better when circumferential fibrosis is present around the tumour.
    British Journal of Surgery 01/2008; 94(12):1530-5. · 4.61 Impact Factor
  • Article: Clinicopathological significance of microscopic abscess formation at the invasive margin of advanced low rectal cancer.
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    ABSTRACT: The aim of this study was to evaluate the clinicopathological significance of microscopic abscess formation (MAF) at the invasive front of advanced low rectal cancer. The clinicopathological features of 226 consecutive patients with low rectal cancer, who underwent curative resection between May 1997 and December 2002, were analysed. Fifty-seven (25.2 per cent) of the 226 tumours had MAF and 169 (74.8 per cent) did not. Patients with tumours showing MAF were more likely to have extended surgery than those without MAF: 47 versus 31.4 per cent respectively underwent non-sphincter-preserving surgery (P=0.029) and 82 versus 60.9 per cent underwent lateral lymph node dissection (P=0.003). The incidence of lymph node metastases was lower in patients with MAF (30 versus 53.3 per cent; P=0.002). Univariable analysis of disease-free survival revealed that depth of invasion (P<0.001), lymph node status (P<0.001), histological type (P=0.035), lymphatic invasion (P<0.001), venous invasion (P<0.001), perineural invasion (P<0.001), focal dedifferentiation (P<0.001) and MAF (P<0.001) were significant prognostic factors. Multivariable analysis showed that lymph node status (P<0.001), perineural invasion (P=0.002), venous invasion (P=0.033) and MAF (P=0.012) remained independent prognostic factors. MAF may reflect indolent tumour behaviour and a more favourable outcome in patients with advanced low rectal cancer.
    British Journal of Surgery 03/2007; 94(2):239-43. · 4.61 Impact Factor
  • Article: Reduction of prolonged postoperative hospital stay after laparoscopic surgery for colorectal carcinoma.
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    ABSTRACT: In evaluating the quality of laparoscopic surgery (LS) for colorectal carcinoma, many previous reports have used median or range values to assess the length of postoperative hospital stay and to show the complication and conversion rates separately. However, with this method, it is impossible to assess the proportion of patients who required prolonged postoperative hospital stay because of perioperative morbidities. This study investigated the proportion of patients who benefited from LS as minimally invasive surgery by assessing the percentage of patients who required prolonged postoperative hospital stay because of major perioperative morbidities. A review of 202 patients who underwent LS for colorectal carcinoma at the authors' hospital between January 2002 and December 2004 was performed. Short-term outcomes were compared among the patients who underwent LS in 2002, 2003, and 2004. No significant differences were observed in baseline characteristics among the groups, and all the procedures in this study were completed laparoscopically. There were no significant differences in the operative times and intraoperative blood losses among the groups. Most of the patients resumed liquid intake on postoperative day 1 and solid food on day 3. However, there was a significant difference in the rate of postoperative prolonged hospital stays by year of surgery. In 2004, 97.3% of the patients (72/74) undergoing LS could be discharged to home within 8 days postoperatively. Major complications occurred at a low rate of 1.4% (1/74) in 2004. Regarding the reasons for prolonged postoperative hospital stay, inappropriate judgment of the physician in charge, based primarily on requests from patients without medical necessity, disappeared in 2004. When LS is performed properly by specialists who have accumulated sufficient experience in both LS and conventional open surgery for colorectal carcinoma, up to 97% of patients undergoing LS can benefit from minimally invasive surgery.
    Surgical Endoscopy 10/2006; 20(9):1467-72. · 4.01 Impact Factor
  • Article: A comparison of the complication rates between laparoscopic colectomy and laparoscopic low anterior resection.
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    ABSTRACT: This study compared the short-term outcomes, including the complication rate and minimum surgical invasiveness, between patients with colon and rectal carcinomas, who underwent laparoscopic surgery. A review evaluated 151 patients who underwent laparoscopic colectomy (Lap-colectomy; n = 120) and laparoscopic low anterior resection (Lap-LAR; n = 31) between July 2001 and December 2003. The short-term outcomes were compared between the two groups. The mean operative time and blood loss were significantly greater in the Lap-LAR group. However, the complication rates and postoperative course between the two approaches were similar, and no anastomotic leakage was observed. There was no significant difference in the serum C-reactive protein level and white blood cell count between the two groups in the early postoperative period. Lap-LAR for rectal carcinoma can be performed safely without increased morbidity or mortality, and its short-term benefits are comparable with those conferred by Lap-colectomy.
    Surgical Endoscopy 11/2004; 18(10):1447-51. · 4.01 Impact Factor
  • Article: Lateral pelvic lymph node dissection for advanced lower rectal cancer.
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    ABSTRACT: The oncological outcome of patients who underwent curative surgery for lower rectal cancer was investigated to clarify whether lateral pelvic lymph node dissection (LPLD) conferred any benefit. A total of 246 patients who underwent curative surgery for stage II and III lower rectal cancer (below the peritoneal reflection) between 1985 and 1998 was reviewed. Forty-two of these patients did not undergo LPLD. Patients who did not undergo LPLD were older, more likely to have anterior resection and pelvic nerve preservation, and had smaller tumours and lymph node metastasis at an earlier stage than those who underwent LPLD. There was no difference in survival among patients with stage II and III disease between the two groups. However, in patients with pathological N1 lymph node metastasis, the 5-year disease-free survival rate was 73.3 per cent in patients who had LPLD compared with 35.3 per cent among those who did not (P = 0.013). Multivariate analysis showed that LPLD was a significant prognostic factor. LPLD improved the prognosis of patients with stage III disease and a small number of lymph node metastases. A randomized clinical trial is needed to verify the benefit of LPLD.
    British Journal of Surgery 01/2004; 90(12):1580-5. · 4.61 Impact Factor
  • Article: Aggressive surgical treatment for patients with T4 rectal cancer.
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    ABSTRACT: To investigate the outcome of surgical treatment for patients with T4 rectal cancer and to evaluate prognostic factors influencing 5-year disease-free survival. Of 1600 rectal cancers seen between 1985 and 1998, there were 197 patients with T4 of whom 128 were treated with curative intent. In this retrospective study organ invaded, the type of treatment and outcome were analysed. Of the 128 patients, 89% had visceral involvement and 11% had pelvic wall involvement. The most frequently involved organ was bladder, followed by prostate and vagina. Low anterior resection was performed in 52, abdomino-perineal resection in 35 and total pelvic exenteration in 41 patients. Of 81 with urinary tract invasion, 50% were treated with bladder-sparing surgery. Pathological examinations showed bladder involvement in only 44 of these and overall 5-year disease-free survival was 57%. Multivariate analysis revealed that body mass index, lymph node metastasis and inflammatory reaction were significant predictors of survival. Completeness of resection is the essential factor influencing oncological outcome.
    Colorectal Disease 10/2003; 5(5):427-31. · 2.93 Impact Factor
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    Article: Frequent genomic disorganisation of MLH1 in hereditary non-polyposis colorectal cancer (HNPCC) screened by RT-PCR on puromycin treated samples.
    Journal of Medical Genetics 04/2003; 40(3):e30. · 6.36 Impact Factor
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    Article: Prognostic significance of dysadherin expression in advanced colorectal carcinoma.
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    ABSTRACT: A novel glycoprotein, dysadherin, has an anti-cell - cell adhesion function through downregulating E-cadherin. In this study, we investigated the expressions of dysadherin and E-cadherin in 82 patients with stage II and III colorectal carcinomas to determine the correlation between the two molecules and the clinicopathologic features of each tumour. Dysadherin was not expressed in normal colorectal epithelium. Fifty-one per cent of tumours showed dysadherin immunopositivity in over 50% of cancer cells. Thirty-eight per cent of tumours showed reduced E-cadherin immunopositivity. The increased expression of dysadherin was significantly associated with lung metastasis (P=0.003). The increased expression of dysadherin had a significant impact on patient survival (P=0.0099 and 0.0036, log-rank test for overall and recurrence-free survival rate, respectively). Furthermore, tumour with increased expression of dysadherin and reduced expression of E-cadherin showed the worst prognosis (P=0.0043 and 0.0028, log-rank test for overall and recurrence-free survival rate, respectively). These results suggest that increased dysadherin expression is a significant indicator of poor prognosis for patients with advanced colorectal carcinoma.
    British Journal of Cancer 04/2003; 88(5):726-32. · 5.04 Impact Factor
  • Article: Detection of cytokeratin 19 and 20 mRNA in peripheral and mesenteric blood from colorectal cancer patients and their prognosis.
    S Fujita, N Kudo, T Akasu, Y Moriya
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    ABSTRACT: To detect the presence of cancer cells in peripheral and mesenteric blood and to examine their relationship to prognosis in colorectal cancer patients undergoing curative surgery, we examined cytokeratin 19 and 20 mRNA in peripheral and mesenteric venous blood. Using reverse transcriptase polymerase chain reaction, cytokeratin 19 and 20 mRNA was amplified in peripheral and mesenteric blood samples obtained from 35 colorectal cancer patients who underwent curative surgery. Cytokeratin 19 or 20 mRNA in peripheral or mesenteric blood samples was detected in 18 of 35 cases (51%). There was no significant difference in Dukes' staging between the positive and negative groups. The median follow-up period was 56 months. In the positive group six patients (33%) showed recurrences. One patient (6%) showed recurrence in the negative group. The recurrence rate was significantly higher in the positive group than in the negative group. Five-year disease-free survival was significantly better in the negative group than in the positive group (94% vs. 65%). The detection of cytokeratin 19 or 20 mRNA in peripheral or mesenteric blood is thus associated with the prognosis for colorectal cancer patients undergoing curative surgery. Although the presence of these mRNAs in blood samples is a prognostic marker, the clinical utility of this assay is questionable because of the low recurrence rate in the positive group.
    International Journal of Colorectal Disease 07/2001; 16(3):141-6. · 2.38 Impact Factor
  • Article: [Surgical treatment of liver metastases from colorectal cancer patient selection and oncological outcome].
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    ABSTRACT: The indications for surgical resection of liver metastases from colorectal cancer remain controversial. Clinical, pathological, and outcome data for 418 consecutive patients undergoing hepatectomy between 1984 and 1998 were examined. The over-all 5-year survival rate was 42%, and the 10-year survival rate was 31%. The 5-year survival rate of patients with four or more nodules was 24%, with 20 patients surviving for more than 5 years. Five factors were found to be significant and independent predictors of poor long-term outcome by multivariate analysis. The preoperative scoring system reported by Fong et al was double-checked in our 418 patients and was found to be useful to predict long-term outcome after hepatectomy. It is clear that liver resection alone has limitations. Therefore clinical risk scoring (CRS) and effective intravenous systemic chemotherapy to prevent recurrence both in the remaining liver and lung should be established to improve survival outcome in patients with poor prognostic factors after liver resection.
    Nippon Geka Gakkai zasshi 06/2001; 102(5):385-9.
  • Article: Increased expression of laminin-5 and its prognostic significance in lung adenocarcinomas of small size. An immunohistochemical analysis of 102 cases.
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    ABSTRACT: Laminin-5 plays an important role in cell migration during tissue remodeling and tumor invasion. The authors studied the expression of laminin-5 immunohistochemically in 102 cases of small-sized lung adenocarcinoma (maximum dimension < or = 2 cm) using a monoclonal antibody against the laminin gamma2 chain, and they also investigated the associations of laminin-5 with clinicopathologic characteristics. Prognostic significance of increased laminin-5 expression was evaluated using the Kaplan-Meier method and the Cox proportional hazard model. Overall, laminin-5 expression was observed in 82 cases (80.4%): 7 of 18 (38.9%) bronchioloalveolar carcinomas and 75 of 84 (89.3%) invasive adenocarcinomas. Laminin-5 was preferentially localized in the cytoplasm of tumor cells at the tumor-stromal interface, where budding or dissociation of cancer cells was frequently observed. Overexpression of laminin-5 (24 cases, 23.5%) was associated with vascular invasion (P = 0.021) and stromal fibroblastic reaction (P = 0.005) but not with nodal involvement, lymphatic invasion, or pleural invasion. Survival analysis revealed that overexpression of laminin-5 was associated with shorter patient survival (P = 0.0027 by log rank test). On multivariate analysis, overexpression of laminin-5 was an independent prognostic factor (P = 0.030), as were nodal involvement (P < 0.0001), vascular invasion (P = 0.047), and lymphatic invasion (P = 0.0047) in a whole cohort of patients. Moreover, when patients with Stage I (International Union Against Cancer [UICC] staging system) disease were considered in multivariate analysis, overexpression of laminin-5 was the only significant prognostic factor (P = 0.022), whereas vascular invasion had a marginally significant impact (P = 0.07) on patient survival. The authors' results showed that laminin-5 is frequently expressed by cancer cells at the invasive front of lung adenocarcinoma. The study concluded that overexpression of laminin-5 may be a useful prognostic factor in patients with small-sized lung adenocarcinoma, especially in Stage I cases.
    Cancer 04/2001; 91(6):1129-41. · 4.77 Impact Factor
  • Article: Long-term outcome of urinary function after extended lymphadenectomy in patients with distal rectal cancer.
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    ABSTRACT: Extended lymphadenectomy for rectal cancer has been superseded by autonomic nerve-sparing surgery, but it still has historical significance. It is useful to document the long-term outcome of urinary function in cases who had resection of the inferior hypogastric nerve plexus (pelvic nerve plexus). The long-term urinary function following extended lymphadenectomy was studied retrospectively through the medical records of 83 patients who had been followed-up for more than 5 years after surgery. Forty-four per cent of the male patients and 17% of the female patients had to perform clean intermittent self-catheterization (CIC) for more than 1 year; these rates were almost the same at 3 years after the procedure. Urinary incontinence was reported in 34% of the male patients and 45% of the female patients. Complicated cystitis (eight patients), complicated pyelonephritis (two patients), bladder stones (five patients) that required surgical treatment, and chronic renal failure (two patients) were considered as adverse outcomes of extended surgery. In particular, one case needed to undergo urinary diversion. A surprisingly large proportion of patients suffered various urinary tract problems due to extended lymphadenectomy. The findings demonstrate the importance of selection of well-balanced operations that can encompass both radicality and quality of life. The extent of resection should be decided by the extent of the cancer and routine excision of the inferior hypogastric nerve plexus should not be performed.
    European Journal of Surgical Oncology 04/2001; 27(2):165-9. · 2.50 Impact Factor
  • Article: Cytoplasmic beta-catenin accumulation as a predictor of hematogenous metastasis in human colorectal cancer.
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    ABSTRACT: The membranous, cytoplasmic and nuclear levels of beta-catenin were evaluated immunohistochemically in archival tissue specimens from 96 Japanese patients with primary colorectal carcinoma who had undergone surgery. The relationships between beta-catenin and clinicopathological variables were analyzed statistically. Reduced beta-catenin immunoreactivity in the cell membranes of cancer cells was found in 70% of the tumors, and cytoplasmic and nuclear accumulation of beta-catenin were found in 68 and 66% of tumors, respectively. Significant correlations between cytoplasmic beta-catenin accumulation and the depth of invasion, venous invasion and focal dedifferentiation were observed. Cytoplasmic beta-catenin accumulation was also found to be a useful predictor of hematogenous metastasis (hazard ratio = 8.94, p = 0.054), though neither a reduced cell membrane level nor nuclear accumulation of beta-catenin correlated with metastasis.
    Oncology 12/2000; 59(4):302-9. · 2.27 Impact Factor
  • Article: Endorectal ultrasonography and treatment of early stage rectal cancer.
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    ABSTRACT: The purpose of this study was to evaluate the accuracy of preoperative staging by endorectal ultrasonography (EUS) and its contribution to treatment of early stage rectal cancer (ESRC). The results of EUS for 154 consecutive patients with ESRC (pTis to pT2) were compared prospectively with histologic findings, assessed according to the TNM classification. Results of treatment selection and long-term outcomes were analyzed retrospectively. There were 35 patients histologically staged as pTis, 8 as pT1-slight (invasion confined to the superficial one-third of the submucosa), 37 as pT1-massive (invasion extending to the deeper submucosa), and 74 as pT2. The equipment used was an echoendoscope GF-UM2 or GF-UM3 (Olympus, Tokyo, Japan). Sensitivity/specificity/overall accuracy rates for detection of slight submucosal invasion, massive submucosal invasion, and muscularis propria invasion were 99%/74%/96%, 98%/88%/97%, and 97%/93%/96%, respectively. Incidences of lymph node metastasis in pTis, pTis to pT1-slight, pT1, pT1-massive, and pT2 cases were 0%, 0%, 18%, 22%, and 30%, respectively. Incidences of lymph node metastasis in ESRCs staged by EUS (u) as uTis, uT1-slight, uT1-massive, uT2, and uT3 by EUS were 0%, 0%, 26%, 36%, and 64%, respectively. Sensitivity, specificity, and overall accuracy rates for detection of positive nodes in overall ESRCs were 53%, 77%, and 72%, respectively. Of the 43 patients with pTis to pT1-slight tumors, 22 underwent endoscopic polypectomy or local excision, 20 radical surgery, and 1 radical surgery after endoscopic polypectomy due to vascular invasion. All these patients are alive and all but one (who refused radical surgery due to vascular invasion after local excision and developed liver and lung metastases) are disease-free. Of the 37 patients with pT1-massive tumors, 34 underwent radical surgery and 3 transcoccygeal segmental resection. All these patients are alive disease-free except for one who died of peritoneal carcinomatosis after radical surgery. All patients with pT2 tumors underwent radical surgery. The overall 5-year survival rates for pTis, pT1, and pT2 cases were 100%, 98%, and 97%, respectively. EUS is an accurate method for evaluating invasion depth in ESRC. Patients with uTis or uT1-slight tumors staged by EUS are at low risk of positive nodes and good candidates for endoscopic polypectomy or local excision. Those with uT1-massive or uT2 lesions should be treated with a radical operation because of the high incidence of positive nodes.
    World Journal of Surgery 10/2000; 24(9):1061-8. · 2.36 Impact Factor
  • Article: Anal canal squamous-cell carcinoma in situ, clearly demonstrated by indigo carmine dye spraying: report of a case.
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    ABSTRACT: To our knowledge, there has been no report of the use of indigo carmine dye spraying for the diagnosis of intraepithelial neoplasia. An asymptomatic 58-year-old female was referred to our hospital with a diagnosis of squamous-cell carcinoma in the anal canal. After indigo carmine dye spraying the margin and surface appearance of the lesion could be clearly defined. The lesion was completely removed by transanal resection. Final histologic diagnosis was squamous-cell carcinoma in situ with koilocytosis. Our case suggests that indigo carmine could be useful for the diagnosis of intraepithelia neoplasia.
    Diseases of the Colon & Rectum 09/2000; 43(8):1161-3. · 3.13 Impact Factor
  • Article: Six-year disease-free survival of a patient with metastatic eyelid squamous cell carcinoma and colon adenocarcinoma after repeated postoperative adoptive immunotherapy.
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    ABSTRACT: A 74-year-old male was affected concurrently with squamous cell carcinoma of the left eyelid and adenocarcinoma of the colon, both with lymph node metastasis. He underwent exenteration of the left orbit with left modified radical neck dissection and subsequently resection of the transverse colon with regional lymph node dissection. The patient has been treated by an adoptive immunotherapy as a sole postoperative modality without receiving any chemotherapeutic agents causing immunosuppression. For the adoptive immunotherapy, autologous peripheral blood lymphocytes were activated with an immobilized anti-CD3 antibody and IL-2 for 14 days (the CD3-AT cells). The infusion with 1.38 x 10(10) CD3-AT cells has been repeated 150 times in total at the time of writing. Neither recurrence nor additional metastasis has been detected for 6 years after surgery.
    Japanese Journal of Clinical Oncology 07/2000; 30(6):267-71. · 1.78 Impact Factor
  • Article: Tumor thickness is a histopathologic predictive parameter of tumor metastasis and prognosis in patients with Dukes stage C ulcerative-type colorectal carcinoma. A two-hospital-based study.
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    ABSTRACT: Metastasis to the liver or lymph nodes is an important prognostic factor in patients with colorectal carcinoma. The purpose of the current study was to estimate the power of tumor thickness in predicting metachronous liver metastasis (MLM), lymph node metastasis (LNM), or overall survival (OS) in patients at two hospitals (the National Cancer Center Hospital [NCCH] and the National Cancer Center Hospital East [NCCHE]) to confirm the reproducibility of the study. The subjects of this study were 74 and 186 consecutive patients with ulcerative-type colorectal carcinoma treated at the NCCH and NCCHE, respectively. Tumor thickness was measured in three areas: 1) the marginal elevated area (MEA), 2) the central depressed area (CDA), and 3) the most thickened area (MTA). Studies were performed with well known histologic parameters to compare the predictive power of tumor thickness on MLM, LNM, and OS using the Cox proportional hazards regression model or analysis of variance. A significant correlation between tumor thickness and MLM was observed only in the CDA in the NCCH patients (P = 0.005). The authors applied a tumor thickness cutoff value in the CDA of 10 mm (</= 10 mm and > 10 mm) for further study. Multivariate analyses demonstrated that a tumor CDA thickness > 10 mm was associated significantly with MLM, multiple LNMs, and OS in NCCH patients with Dukes Stage C disease (P = 0.002, P = 0.023, and P = 0.002, respectively). A significant predictive power for tumor CDA thickness for MLM, multiple LNMs, and OS was confirmed by multivariate analysis in NCCHE patients with Dukes Stage C disease (P = 0.008, P = 0.021, and P = 0.010, respectively). The CDA thickness of the tumor was found to be a useful predictive parameter for MLM, multiple LNMs, and OS in patients with Dukes Stage C ulcerative-type colorectal carcinoma who were being treated in two independent hospitals.
    Cancer 07/2000; 89(1):35-45. · 4.77 Impact Factor
  • Article: Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds.
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    ABSTRACT: Hereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal, dominantly inherited cancer-prone syndrome. Here, we describe a novel and efficient approach for screening mutations of two major HNPCC susceptibility genes, hMSH2 and hMLH1. The system consists of RNA extraction from whole blood treated with the translation inhibitor, followed by long RT-PCR of the entire coding regions combined with direct sequencing. In analysis of 15 kindreds suspicious for HNPCC, 8 samples were subjected to analysis after puromycin treatment and 7 samples were analyzed without puromycin treatment. Three deleterious mutations were detected in the kindreds with puromycin treatment, while none were observed in those without puromycin. Signals from mutated alleles were enhanced after puromycin treatment and easily distinguished from the wild-type allele, achieved by suppression of nonsense-mediated mRNA decay. Furthermore, 12 other mutations were detected in 15 kindreds. The system is considered to be a reliable and useful approach for detecting germline mutations of hMSH2 and hMLH1 in HNPCC kindreds.
    Biochemical and Biophysical Research Communications 05/2000; 271(1):120-9. · 2.48 Impact Factor