BRCA1 mutations and colorectal cancer in Poland.

Evidence to date that germline mutations in the tumor suppressor gene BRCA1 increase the incidence of colorectal cancer is mixed, and both positive and negative results have been reported. To establish whether or not inherited variation in BRCA1 influences the risk of colorectal cancer, we genotyped 2,398 unselected patients with colorectal cancer and 4,570 controls from Poland for three BRCA1 founder mutations (C61G, 4153delA and 5382insC). A BRCA1 mutation was present in 0.42% of unselected cases of colorectal cancer and in 0.48% of controls (OR = 0.8; P = 0.8). The mutation frequency was slightly higher (0.93%) in 321 cases who reported a family history of colon cancer in a first- or second-degree relative (OR = 1.9; P = 0.5). A BRCA1 mutation was also seen in excess (0.82%) in 851 cases who were diagnosed with colorectal cancer at age 60 or earlier (OR = 1.7; P = 0.3). The mean age at onset in carriers was 7 years younger than in non-carriers (57.0 years vs. 64.0) and the difference was significant (P = 0.05). This study suggests that BRCA1 mutations may be associated with early-onset of colorectal cancer.

Is serum protein electrophoresis useful in separating the "high risk group" in patients with colonic polyps?

BACKGROUND: Adenomas have the highest potential or clinical value from among colonic polyps of developing into adenocarcinoma. The aims of this paper are: to establish criteria to identify the high risk group of patients in a group of patients with colonic polyps, to work out a simple scheme for follow-up care after endoscopic polypectomy, and to establish indications for surgery. The usefulness of determination of electrophoresis of serum proteins has been specially analysed to detect early development of malignant growths in patients with colonic polyps regarding alfa-1/alfa-2 and alfa/beta. 67 cases - 21 women, 46 men were tested. Follow-up endoscopy with the electrophoresis was performed after 6 weeks, 6 and 12 months after polypectomy. 97 polyps were resected with endoscopy in 67 patients. 38 patients (39.17%), those constituting the high risk group, were selected. Included were all polyps with grade II and III of cellular differentiation. CONCLUSIONS: 1) alfa-1/alfa-2 and alfa/beta is a helpful test in identifying the high risk group among patients with colonic polyps and it can be used as a screening test, 2) the determination of beta-2-macroglobuline is not useful in the diagnosis of this group of patients, 3) the electrophoresis of proteins should be the first test to perform on patients with colonic polyps. The relation of electrophoresis to endoscopic polypectomy aids evaluations of patients specially predisposed to malignant.

Usefulness of two independent histopathological classifications of tumor regression in patients with rectal cancer submitted to hyperfractionated pre-operative radiotherapy.

AIM: To assess the usefulness of two independent histopathological classifications of rectal cancer regression following neo-adjuvant therapy. METHODS: Forty patients at the initial stage cT3NxM0 submitted to preoperative radiotherapy (42 Gy during 18 d) and then to radical surgical treatment. The relationship between "T-downstaging" versus regressive changes expressed by tumor regression grade (TRG 1-5) and Nasierowska-Guttmejer classification (NG 1-3) was studied as well as the relationship between TRG and NG versus local tumor stage ypT and lymph nodes status, ypN. RESULTS: Complete regression (ypT0, TRG 1) was found in one patient. "T-downstaging" was observed in 11 (27.5%) patients. There was a weak statistical significance of the relationship between "T-downstaging" and TRG staging and NG stage. Patients with ypT1 were diagnosed as TRG 2-3 while those with ypT3 as TRG5. No lymph node metastases were found in patients with TRG 1-2. None of the patients without lymph node metastases were diagnosed as TRG 5. Patients in the ypT1 stage were NG 1-2. No lymph node metastases were found in NG 1. There was a significant correlation between TRG and NG. CONCLUSION: Histopathological classifications may be useful in the monitoring of the effects of hyperfractionated preoperative radiotherapy in patients with rectal cancer at the stage of cT3NxM0. There is no unequivocal relationship between "T-downstaging" and TRG and NG. There is some concordance in the assessment of lymph node status with ypT, TRG and NG. TRG and NG are of limited value for the risk assessment of the lymph node involvement.

A pilot study of accelerated preoperative hyperfractionated pelvic irradiation with or without low-dose preoperative prophylactic liver irradiation in patients with locally advanced rectal cancer.

BACKGROUND AND PURPOSE: To evaluate the feasibility of low-dose preoperative prophylactic liver irradiation (PLI) combined with preoperative accelerated hyperfractionated pelvic irradiation (HART) in patients with locally advanced rectal cancer. PATIENTS AND METHODS: Between 1999 and 2003 62 patients were enrolled: 38 (61%) received HART and 24 (39%) HART+PLI. The pelvis was irradiated twice a day, with a minimal interfraction interval of 6h: the total dose of 42 Gy was given in 1.5 Gy per fractions over 18 days. The PLI (14 Gy in 10 daily fractions of 1.4 Gy) was given simultaneously with the morning fraction of HART. Twenty patients (32%), including 7 in PLI group, received 5-Fu based postoperative chemotherapy. RESULTS: In general, acute normal tissue reactions appeared tolerable irrespectively of PLI. Six to twelve months after completion of combined therapy the mean ALAT levels in patients treated with HART alone (25 pts), HART+chemotherapy (13 pts), HART+PLI (17 pts), and HART+PLI+chemotherapy (7 pts) were 15, 21, 26 and 55 IU/l, respectively. A mild increase of ALAT levels observed in the HART+PLI+chemotherapy sub-group was non-symptomatic. Three-year actuarial loco-regional control rate in a group of 62 patients was 94%. None of the patients who received PLI developed metastases during the follow-up, compared to 10 out of 38 patients (26%) with no PLI. A difference in metastases-free survival in favor of HART+PLI can be, however, attributed to selection of patients for PLI who were in better general health and stage of disease than those treated with HART. CONCLUSIONS: Further use of PLI may be limited due to asymptomatic, but detectable biochemical changes of liver function when PLI is sequentially combined with chemotherapy. HART, on the other hand, provides acceptable rate of local control, and is well tolerated, also when combined with postoperative chemotherapy.

The radiation-induced changes in rectal mucosa: hyperfractionated vs. hypofractionated preoperative radiation for rectal cancer.

PURPOSE: The purpose of the study was the qualitative and quantitative evaluation of acute radiation-induced rectal changes in patients who underwent preoperative radiotherapy according to two different irradiation protocols. PATIENTS AND METHODS: Sixty-eight patients with rectal adenocarcinoma underwent preoperative radiotherapy; 44 and 24 patients underwent hyperfractionated and hypofractionated protocol, respectively. Fifteen patients treated with surgery alone served as a control group. Five basic histopathologic features (meganucleosis, inflammatory infiltrations, eosinophils, mucus secretion, and erosions) and two additional features (mitotic figures and architectural glandular abnormalities) of radiation-induced changes were qualified and quantified. RESULTS: Acute radiation-induced reactions were found in 66 patients. The most common were eosinophilic and plasma-cell inflammatory infiltrations (65 patients), erosions, and decreased mucus secretion (54 patients). Meganucleosis and mitotic figures were more common in patients who underwent hyperfractionated radiotherapy. The least common were the glandular architectural distortions, especially in patients treated with hypofractionated radiotherapy. Statistically significant differences in morphologic parameters studied between groups treated with different irradiation protocols were found. CONCLUSION: The system of assessment is a valuable tool in the evaluation of radiation-induced changes in the rectal mucosa. A greater intensity of regenerative changes was found in patients treated with hyperfractionated radiotherapy.

[Cecum mobility as a cause of ileus]. / Ruchoma katnica przyczyna niedroznosci przewodu pokarmowego.

The authors present a rare case of ileus caused by unusual cecum mobility. The 31-years old female patient was diagnosed ineffectively several times due to abdominal pain. The diagnostics, an attempt of a conservative treatment, along with surgical and postoperative treatment are discussed.

[Usefulness of evaluation of carcinoembryonic antigen (CEA) and soluble fragments of cytokeratin 18-th (TPS) in postoperative monitoring of patients with colorectal cancer]. / Przydatnosc oznaczen antygenu rakowoplodowego (CEA) i rozpuszczalnych fragmentów cytokeratyny 18-ej (TPS) w pooperacyjnym monitorowaniu chorych na raka okreznicy i odbytnicy.

BACKGROUND: The aim of this study is to diagnose the evaluation of concentration of CEA and TPS in postoperative monitoring of patients with colorectal cancer. PATIENTS AND METHODS: We measured 178 consecutive patients with histopathologically confirmed colorectal cancer: 101 men and 78 women ages 22-86 (average age 54.7). Markers' CEA nad TPS concentration were evaluated before operation and every month after operation during the first 3 months and then every 3 months during 2 years. Relapse was detected in 47 patients. RESULTS: In postoperative period in non-relapse group the mean (the average) concentration of CEA was 1.92+/-2.03 ng/ml and TPS 65.54+/-33.96 U/l and respectively in relapse group for CEA was 1.92+/-2.03 ng/ml and for TPS 65.54+/-33.96 U/l. The obtained results in investigated group show significantly statistical. The relapse was confirmed by using CEA concentration in 42 patients (89.4%). In case of TPS concentration relapse was confirmed in 38 patients (80.85%). The relapse was detected in 45 patients (95.74) if increase in CEA or TPS concentration was treated as a way of detecting relapse. TPS markers point out that the increase of TPS concentartion may be ahead of relapse symptoms at about 2-6 months. CONCLUSIONS: TPS is a useful marker in postoperative monitoring of patients with colorectal cancer. The evaluation of TPS concentration allow to diagnose the recurrence of colorectal cancer earlier than by using burden markers--CEA. Common evaluation of TPS and CEA increase sensitivity in detection of relapse in patients with colorectal cancer.

[Clinical usefulness of determining beta-2-microglobulin concentration in thyroid cystic fluid]. / Przydatnosc kliniczna oznaczania stezenia beta-2-mikroglobuliny w plynie z torbieli gruczolu tarczowego.

UNLABELLED: The main subject of the paper was to prove that beta-2-microglobulin (beta-2-m) exists in fluid taken from a thyroid gland cyst of the patients with non-toxic, nodular goitre with cysts and whether the confirmation of beta-2-m existence in fluid taken from a cyst may indicate the presence of autoimmunological process in thyroid glands. The research was carried out on a group of 36 patients operated on because of goitre. Patients with the thyroid cancer were except. The operations were carried out in the General Surgery Department of Hospital 1 in Sosnowiec from 1994 to 1999. The group of patients consisted of women aged between 13 to 75 years old (average 43 +/- 13.8 years). TSH, FT4 serum concentration in this investigated group were normal. The paper presents the beta-2-m existence in fluid taken from a thyroid gland cyst. It was confirmed that there was no differences between beta-2-m serum concentration in operated patients and in healthy controls. In 50% of patients operated on with thyroid cysts high antibody antithyroid peroxidase (antiTPO) serum concentration and in fluid taken from cyst was confirmed and statistically higher beta-2-m concentration in cyst fluid than beta-2-m concentration in serum. CONCLUSIONS: The increased antiTPO concentration in serum and in a fluid taken from cyst and beta-2-m existence in cyst fluid point to the autoimmunological process taking place in half of the patients with thyroid cysts.

[Endothelin ET-1 in patients with non-toxic nodular goiter]. / Endotelina ET-1 u chorych z wolem guzkowym obojetnym.

Endothelin ET-1 plays an important, however not entirely identified role in physiology and pathology of thyroid gland. The aim of the study was to determine if in patients with non-toxic nodular goiter there is relationship between size of goiter and ET-1 concentration in plasma of peripheral venous blood and plasma of venous blood taken from thyroid vein in patients undergoing strumectomy. The study included 30 patients with non-toxic nodular goiter (29 women and 1 man, mean age 48 year) and 15 healthy persons of control group. In all ET-1 concentration in plasma of venous peripheral blood and T3, T4, TSH serum concentration were estimated using radioimmunologic methods, as well as size of thyroid gland were evaluated in ultrasonography. Patients with nodular goiter underwent strumectomy. During the operation, before strumectomy, blood from thyroid vein was sampled to estimate plasma ET-1 concentration. Patients were divided into two groups: with adenomatous goiter (14 patients) and colloid goiter (16 patients). The goiter size was similar in each group. In all of the groups there was no relationship between goiter size and ET-1 concentration in plasma of peripheral and thyroid vein. Lack of correlation between ET-1 concentration in plasma and goiter size does not exclude possible ET-1 role in goitrogenesis, it suggests that ET-1 may play a role in control of thyroid gland trophic regulation and vascularity as paracrine or autocrine factor. Significantly higher concentration of ET-1 in plasma of thyroid vein in comparison to plasma of peripheral venous blood and positive correlation between ET-1 concentration in thyroid and peripheral plasma were found in both studied groups of patients with goiter and this may speak for increased ET-1 production within the goiter.

[Instillagel in prevention of postoperative urinary tract infection--randomized trial]. / Instillagel w profilaktyce pooperacyjnych zakazen ukladu moczowego. Badanie randomizowane.

UNLABELLED: The progress of operative technique, introduction of new drugs, modernizing of medical equipment are the cause of long and complicated operations. For that reason, the number of patients, who need the catheterization of the urinary bladder is increasing. The use of the vesical catheter over 5 days is the cause of the urinary tract infection (bacterial and mycotic), the bacteraemia and the extension of the time of recovery. The aim of the study was the estimation of the usefulness of the preparation Instillagel used at the time of the urinary bladder catheterization in the patients before an operation, in aspect of frequency of urinary tract infection. Between January and December 2000, 59 patients were selected for the study. The patients were divided into two groups. In the first group, the preparation Instillagel was used at the time of the catheterization. In the control group 2% Lignocainum hydrochloricum was used at the time of the catheterization. The study was prospective and randomized. The usefulness of the preparation Insillagel was estimated through the comparison of frequency of the urinary tract infection in both groups. The catheterization of the urinary bladder was performed according to aseptic principle. The difference between number and age of the patients in both groups was not statistically significant (p = 0.8538). The time of the keeping of the vesical catheter was similar in both groups (p = 0.576635). The urinary tract infection estimated on the basis of clinical symptoms and laboratory findings was diagnosed in 13 patients (5 patients in the first group, and 8 patients in the control group). The frequency of urinary tract infection was not statistically significant in both groups. CONCLUSIONS: The urinary tract infection is frequent complication in patients with catheter in the urinary bladder, before operation. The frequency of urinary tract infection was not statistically significant in both groups. The discomfort and pain occurred with the same frequency in both groups.

[Metachronous tumor of the small intestine--rare cause of ileus in a patient after resection of colon cancer]. / Metachroniczny guz jelita cienkiego rzadka przyczyna niedroznosci przewodu pokamowego u chorego po resekcji jelita grubego z powodu raka.

Neoplastic metastases in the small intestine are rare--only 2% of the metastases are localized in the small intestine. It is important to remember that colorectal metastases are the most frequent, though metachronous cancer of the small intestine is the rare cause of ileus or bleeding in patients who underwent resection of the colorectal cancer. The challenge is to select among those patients, the ones with metachronous tumor in the other parts of the small and large bowel. The diagnostics in these situations is often difficult and only the operative management is an optimal way of treatment. We present the case of the patient with metachronous cancer of the small intestine after the sigmoid resection and the diagnostic difficulties concerned.