Subject(s)
Adenocarcinoma , Cholecystectomy/methods , Colectomy/methods , Colonic Neoplasms , Gastrectomy/methods , Pancreaticoduodenectomy/methods , Pancreaticojejunostomy/methods , Adenocarcinoma/diagnosis , Adenocarcinoma/pathology , Adenocarcinoma/physiopathology , Adenocarcinoma/surgery , Aged, 80 and over , Colonic Neoplasms/diagnosis , Colonic Neoplasms/pathology , Colonic Neoplasms/physiopathology , Colonic Neoplasms/surgery , Humans , Intraoperative Care/methods , Male , Neoplasm Invasiveness , Neoplasm Staging , Tomography, X-Ray Computed/methods , Treatment OutcomeABSTRACT
UNLABELLED: Familial adenomatous polyposis (FAP) and Peutz-Jeghers syndrome are genetic diseases characterized by gastrointestinal polyps, extraintestinal manifestations, and autosomal dominant inheritance. The carriers of these diseases from early childhood are at risk for neoplasias at different sites, which are symptomatic at various ages. AIM: to study the clinical organ-specific manifestations in patients with FAP and Peutz-Jeghers, genetics update and possibilities of diagnosis, monitoring, and treatment of these diseases. MATERIAL AND METHODS: The authors give the results of their examination and follow-up of children with FAP and Peutz-Jeghers hamartoma-polypous syndrome. In addition, current data from PubMed, Medline (including reviews, original articles and case reports) were used. RESULTS: The main clinical organ-specific signs of multiple tumors in FAP and Peutz-Jeghers syndrome are shown. Data on the assessment of a risk for malignant tumors at various sites in the affected patients and their family members at different ages are provided. Each of these syndromes has a dissimilar genetic foundation. FAP is caused by the germline mutations in the APC gene, Peutz-Jeghers syndrome is by the STK11 gene, which predispose individuals to specifically associated neoplasias and require different follow-up strategies. Information on a phenotype-genotype correlation may serve as a reference point for the possible severity and various manifestations of a disease. An update on the molecular pathogenesis of these diseases is considered. CONCLUSION: Molecular genetic testing of the genes associated with FAP and Peutz-Jeghers syndromes makes it possible to timely recognize family members at high risk, to plan therapeutic strategy and to affect the course of a disease. The joint participation of pediatricians, proctologists, oncologists, morphologists, geneticists, and molecular biologists is essential to timely recognize the carriers of the syndromes and a better prognosis in these patients.
Subject(s)
Adenomatous Polyposis Coli Protein , Adenomatous Polyposis Coli , Mutation , Peutz-Jeghers Syndrome , Protein Serine-Threonine Kinases , AMP-Activated Protein Kinase Kinases , Adenomatous Polyposis Coli/genetics , Adenomatous Polyposis Coli/metabolism , Adenomatous Polyposis Coli/pathology , Adenomatous Polyposis Coli Protein/genetics , Adenomatous Polyposis Coli Protein/metabolism , Female , Humans , Male , Peutz-Jeghers Syndrome/genetics , Peutz-Jeghers Syndrome/metabolism , Peutz-Jeghers Syndrome/pathology , Protein Serine-Threonine Kinases/genetics , Protein Serine-Threonine Kinases/metabolismABSTRACT
The paper presents an evaluation of the results of surgical and combined treatment received by 961 patients at the Center's Clinics within 28 years. The analysis was based on 3 protocols of prospective randomized study. It dealt with assessment of the end results of surgical and combined treatment for operable rectal cancer using one preoperative hyperfractonated STD of 5-25 Gy. That was combined with local microwave hyperthermia and two radio modifiers--local microwave hyperthermia+intrarectal administration of a preparation containing metronidazolum. Due to the latter factor, the rate of 3-year relapse-free survival rose considerably. Also, loco-regional and distant metastasis incidence was cut down due to superior ablasticity of surgery.
Subject(s)
Rectal Neoplasms/mortality , Rectal Neoplasms/therapy , Combined Modality Therapy , Disease-Free Survival , Female , Humans , Male , Prospective Studies , Randomized Controlled Trials as Topic , Retrospective Studies , Survival RateABSTRACT
Use of combined pre- and intraoperative radiotherapy for rectal cancer involving metastases to regional lymph nodes failed to lower incidence of loco-regional recurrences or improve 5-year results, as compared with pre-operative radiotherapy alone. Besides, distant metastasis rates remained rather high (ca.30%). However, pre-operative radiotherapy plus local SHF-hyperthermia were followed by a significant drop in loco-regional recurrence incidence (to 2.3%), as compared with surgery alone and combined treatment using pre-operative hyper-fractionated-radiotherapy (TTD 25 Gy). Distant metastasis rates dropped to 25%. Also, 5-year survival increased significantly.
Subject(s)
Hyperthermia, Induced , Lymph Nodes/pathology , Neoadjuvant Therapy/methods , Rectal Neoplasms/radiotherapy , Rectal Neoplasms/surgery , Dose Fractionation, Radiation , Female , Follow-Up Studies , Humans , Intraoperative Period , Lymphatic Metastasis , Male , Neoplasm Recurrence, Local/prevention & control , Neoplasm Staging , Radiotherapy, Adjuvant , Rectal Neoplasms/pathology , Rectal Neoplasms/therapy , Retrospective Studies , Survival Analysis , Treatment OutcomeABSTRACT
Data on the examination of 260 radically-treated patients with rectal tumors in the inferior ampullar segment are presented. 107 patients received surgery alone, another 75--preoperative radiotherapy, while still another 78--preoperative thermoradiotherapy. Combined treatment of stage III tumors significantly reduced recurrence incidence and was followed by significant increase in recurrence-free survival rates. In cases of tumor disseminated to the regional lymph nodes, recurrence-free survival was observed after preoperative thermoradiation only.
Subject(s)
Hyperthermia, Induced , Rectal Neoplasms/radiotherapy , Rectal Neoplasms/surgery , Adult , Aged , Disease-Free Survival , Female , Humans , Male , Middle Aged , Neoplasm Staging , Radiotherapy, Adjuvant/methods , Rectal Neoplasms/pathology , Retrospective Studies , Treatment OutcomeABSTRACT
Radiotherapy was given postoperatively to 37 out of 81 patients with metastases into the regional lymph nodes (stage C after Dukes) to prevent relapse. All the patients had undergone radical surgery. No significant decrease in relapse incidence could be achieved unless an absorbed dose of 40 Gy was received postoperatively. However, combined treatment failed to produce a significant rise in five-year survival due to deaths from distant metastases.
