. Sriplung H. Projection of cancer problems. In: Khuhaprema T, Srivatanakul P, Sriplung H, et al. editors. Cancer in Thailand. Vol. IV, 1998-2000, Bangkok: Bangkok Medical Publisher; 2007. p. 81-3. 5. Kaz AM, Brentnall TA. Genetic testing for colon cancer. Gastroenterol Hepatol. 2006; 3:670-9. 6. Savithri HS, Venkatesha Murthy HS, Baskaran G, Appaji Rao N, Kool D, Edkins E, et al. Predictive testing for familialadenomatouspolyposis in a rural South Indian community. Clin Genet. 2000; 58:57-60. 7. Kinney AY, Hicken B, Simonsen SE, Venne V, Lowstuter K, Balzotti J, Burt RW
Genetic testing for young-onset colorectal cancer: case report and evidence-based clinical guidelines
Background. Young-onset colorectal cancer is clinicopathologically different from older-onset colorectal cancer and tends to occur in patients with hereditary germline conditions such as Lynch syndrome and familial adenomatous polyposis.
Case report. We describe the case of a 44-year-old man with a paternal history of colon polyps, a personal 2-year history of hematochezia, and a diagnosis of rectal cancer. Further clinical evaluation of the patient at our institution determined the cancer to be stage IIIA. The patient underwent genetic counseling and testing, which indicated he was negative for the most common familial cancer syndromes. After treatment with neoadjuvant chemoradiotherapy, surgery, and adjuvant chemotherapy, the patient has done well. We review the hereditary cancer syndromes and genetic tests to consider for patients with early-onset colorectal cancer.
Conclusions. This case underscores the importance of following cancer-screening guidelines.
Molecular diagnosis relieves patients of uncertainty, aids informed decisions about health and reproductive choices, and helps them join clinical trials or access available therapy. Genetic testing by next generation sequencing (NGS) is the suggested choice for a wide variety of disorders with heterogeneous phenotypes, alleles and loci. The development of a NGS service at MAGI Balkans, through the support of a partner, increases the availability of forefront genetic testing in Albania with great advantages for patients and their families. Here we report the NGS tests performed in collaboration with MAGI Euregio, Italy, for the diagnosis of rare genetic disease in seven probands and their families. The diseases/manifestations included ichthyosis, familial adenomatous polyposis, diabetes, syndromic craniosynostosis, fronto-temporal dementia, fragile X syndrome and ataxia. We obtained an overall detection rate of 57%. For 4/7 probands we identified a pathogenic or likely pathogenic variant, while for the others, the results did not completely explain the phenotype. All variants were confirmed by Sanger sequencing. Segregation of the variant with the affected phenotype was also evaluated.
1999;57:1004 4. Boffano P, Bosco GF, Gerbino G. The surgical management of oral and maxillofacial manifestations of Gardner Syndrome. J Oral Maxillofac Surg 2010;68:2549-54 5. Wijn MA, Keller JJ, Giardiello FM, et al: Oral and maxillofacial manifestations of familialadenomatouspolyposis. Oral Dis 2007;13: 360 6. Fotiadis C, Tsekouras DK, Antonakis P, et al: Gardner’s syndrome: A case report and review of the literature. World J Gastroenterol 2005;11:5408 7. Vogelstein B, Kinzler KW. Colorectal tumors. The Genetic Basis of Human Cancer. New York: McGraw-Hill; 1998
References Anonīms (2007). Latvijas vēža registrs [Cancer Registry of Latvia]. Riga, Latvia (in Latvian). Anonymous (2002). Globocan 2002. International Agency for Research on Cancer. http://www-dep.iarc.fr/globocan/globocan.html Aretz, S., Stienen, D., Friedrichs, N., Stemmler, S., Uhlhaas, S., Rahner, N., Friedl, W. (2007). Somatic APC mosaicism: A frequent cause of familialadenomatouspolyposis (FAP). Hum. Mutat. , 28 (10), 985-992. Bartch, D.K., Kress, R., Sina-Frey, M., Grutzman, R., Gerdes, B., Pilarsky, C., Heise, J.V., Schulte, K.M., Ghadimi, M
(OMIM: 611731) in patients with familialadenomatouspolyposis (FAP). Current data indicate that the molecular defects in these syndromes are very heterogeneous, and that certain mutations might occur with considerable frequencies in particular populations [ 3 ]. In the remaining ~30.0% of inherited CRCs, the etiology is still not completely understood. The recent expansion of new sequencing technologies based on massive parallel next generation sequencing (NGS), including whole-genome and whole-exome sequencing, as well as copy number approaches, offered
Functional Outcome and Quality of Life After Restorative Proctocolectomy and Ileal Pouch-Anal Anastomosis in Elderly Patients
Restorative proctocolectomy with ileal pouch-anal anastomosis is the surgical treatment of choice for patients with medically refractory ulcerative colitis, ulcerative colitis with dysplasia or cancer, or familial adenomatous polyposis (FAP), regardless of their age.
The aim of the paper was to report our 6-year experience of restorative proctocolectomy and ileal pouch-anal anastomosis in elderly population at the tertiary referral centre.
Chart review was performed for four patients undergoing ileal pouch-anal anastomosis from 2006 to 2010. Preoperative histopathologic diagnosis was ulcerative colitis. We collected data regarding patients' demographics, type and duration of disease, previous operations and indications for surgery. We analyzed the operative protocols and postoperative pathologic diagnosis. Early (within 30 days after surgery) and late complications were noted. Follow-up was conducted upon annual function and quality of life questionnaire, physical examination and endoscopic evaluation of the pouch.
Postoperative histopathologic diagnoses were: ulcerative colitis (n=2) and indeterminate colitis (n=2). The average age of the operated patients was 59 years. The mean duration of the follow-up was four years. We report two cases of steroid use prior to operation as well as two cases of extraintestinal manifestations. We report no septic complications and two cases of pouchitis. Functional results and quality of life were good to excellent in all four cases of ileal pouch-anal anastomosis.
Restorative proctocolectomy with ileal pouch-anal anastomosis in elderly people is a safe procedure with low morbidity rate. Functional results are generally good and patient satisfaction is high.
Myocardial Infarction. Eur Heart J. 2012;33:2551-2567. doi: 10.1093/eurheartj/ehs184. 7. Murthy S, Looney J, Jaklitsch MT. Gastropericardial fistula after laparoscopic surgery for reflux disease. N Engl J Med. 2002;346:328-332. doi: 10.1056/NEJMoa010259. 8. Chinnaiyan KM, Ali MI, Gunaratnam NT. Gastric cancer presenting as gastropericardial fistula in a patient with familialadenomatouspolyposis syndrome. J Clin Gastroenterol. 2004;38:298. 9. Simice P, Zwirewich CV. Gastropericardial fistula complicating benign gastric ulcer: case report. Can Assoc Radiol J. 2000