A report of two cases

Colorectal carcinoma is one of the most common cancers and one of the leading causes of cancer-related death in the United States. Pathologic examination of biopsy, polypectomy and resection specimens is crucial to appropriate patient managemnt, prognosis assessment and family counseling. Molecular testing plays an increasingly important role in the era of personalized medicine. This review article focuses on the histopathology and molecular pathology of colorectal carcinoma and its precursor lesions, with an emphasis on their clinical relevance.

/pdf/colorectal-carcinoma-pathologic-aspects-iun914la98.pdf

Colorectal carcinoma: Pathologic aspects

A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment

Background: Although high-risk mutations in identified major susceptibility genes (DNA mismatch repair genes and MUTYH) account for some familial aggregation of colorectal cancer, their population prevalence and the causes of the remaining familial aggregation are not knownMethods: We studied the families of 5,744 colorectal cancer cases (probands) recruited from population cancer registries in the United States, Canada, and Australia and screened probands for mutations in mismatch repair genes and MUTYH We conducted modified segregation analyses using the cancer history of first-degree relatives, conditional on the proband's age at diagnosis We estimated the prevalence of mutations in the identified genes, the prevalence of HR for unidentified major gene mutations, and the variance of the residual polygenic componentResults: We estimated that 1 in 279 of the population carry mutations in mismatch repair genes (MLH1 = 1 in 1,946, MSH2 = 1 in 2,841, MSH6 = 1 in 758, PMS2 = 1 in 714), 1 in 45 carry mutations in MUTYH, and 1 in 504 carry mutations associated with an average 31-fold increased risk of colorectal cancer in unidentified major genes The estimated polygenic variance was reduced by 30% to 50% after allowing for unidentified major genes and decreased from 33 for age <40 years to 05 for age ≥70 years (equivalent to sibling relative risks of 51 to 13, respectively)Conclusions: Unidentified major genes might explain one third to one half of the missing heritability of colorectal cancerImpact: Our findings could aid gene discovery and development of better colorectal cancer risk prediction models Cancer Epidemiol Biomarkers Prev; 26(3); 404-12 ©2016 AACR

/pdf/prevalence-and-penetrance-of-major-genes-and-polygenes-for-2020x9ogqs.pdf

Prevalence and Penetrance of Major Genes and Polygenes for Colorectal Cancer

Background:Esophageal atresia (EA) is one of the most common congenital digestive anomalies. With improvements in surgical techniques and intensive care treatments, the focus of care of these patients has shifted from mortality to morbidity and quality-of-life issues. These children face gas

/pdf/espghan-naspghan-guidelines-for-the-evaluation-and-treatment-ifmeqgvo2g.pdf

ESPGHAN-NASPGHAN Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Esophageal Atresia-Tracheoesophageal Fistula.

Aim: Report of a series of 12 cases of juvenile polyposis coli. Methods: The study period was from 1995 to 2005. All the patients were treated by total colectomy with rectal mucosectomy and endorectal ileoanal pullthrough with or without ileal pouch formation. Covering ileostomy was avoided in all the cases. Time taken for the surgery, postoperative complications and continence were documented. Results: The mean operating time was 4.2 h (range: 4-5 h). The mean duration of hospital stay was 16.3 days (range: 15-18 days). The most common postoperative complication was pouchitis and perianal excoriation. Initially, all the patients were passing stools at an interval of 2 h, and after 3 weeks, the frequency has reduced to 6-8 stools per day. In the follow-up after 3 months, the frequency was 3-5 per day with minimal soiling. Conclusions: Single-stage total colectomy with rectal mucosectomy and endorectal ileoanal pull-through without covering ileostomy and pouch formation is a safe and definitive treatment for juvenile polyposis coli if the patient selection is appropriate.

Juvenile polyposis syndrome

Congenital tracheoesophageal fistula (TEF) with esophageal atresia (EA) is not an uncommon disease of newborns. Several classifications have been advocated for predicting the outcomes of these patients but all are physiological and concentrated on associated medical condition that influences survival. We emphasize a new classification on the basis of gap between two esophageal pouches to define the magnitude of surgical problems in the primary repair and correlate them with the outcomes in terms of anastomotic leak, esophageal stricture and mortality, keeping other prognostic factors constant. A total of 50 cases of congenital TEF with EA were included and all underwent primary esophageal anastomosis after the ligation of TEF. The gap between the two pouches was meticulously measured intraoperatively using a vernier caliper before the ligation of TEF, and patients were divided into four groups on the basis of gap length. Group A, where gap length was >3.5 cm (ultralong), group B where gap length was 2.1-3.5 cm (long gap), group C where gap length was >1 cm but not more than 2 cm (intermediate group) and group D, where the gap between two esophageal pouches was 1 cm or less (short gap). The incidence of anastomotic leak was 80, 50, 28, 10.5% and the incidence of esophageal stricture was 100, 75, 22.5, 19% after successful primary repair, respectively, in groups A, B, C and D. The mortality was highest in group A (80%) followed by group B (50%) and 22% in group C and least 15.6% in group D. The incidences of esophageal leak and mortality were found to be statistically significant. This classification which is based on easily measurable criteria provides a useful method to predict morbidity, long-term outcome and mortality of EA with TEF surgery.

/pdf/prognosis-of-congenital-tracheoesophageal-fistula-with-346kmmt33q.pdf

Prognosis of congenital tracheoesophageal fistula with esophageal atresia on the basis of gap length.

Twenty years' experience of steroids in infantile hemangioma--a developing country's perspective.

Noncommunicating isolated enteric duplication cyst in childhood

Fetus in fetu is an extremely rare condition wherein a malformed fetus is found in the abdomen of its twin. This entity is differentiated from teratoma by its embryological origin, its unusual location in the retroperitoneal space, and the presence of vertebral organization with limb buds and well-developed organ systems. The literature cites less than 100 cases worldwide of twin fetus in fetu. A two-and-a-half-month-old Asian Indian baby boy had two malformed fetuses in his abdomen. The pre-operative diagnosis was made by performing an ultrasound and a 64-slice computer tomography scan of the baby's abdomen. Two fetoid-like masses were successfully excised from the retroperitoneal area of his abdomen. A macroscopic examination, an X-ray of the specimen after operation, and the histological features observed were suggestive of twin fetus in fetu. Fetus in fetu is an extremely rare condition. Before any operation is carried out on a patient, imaging studies should first be conducted to differentiate this condition from teratoma. Surgical excision is a curative procedure, and a macroscopic examination of the sac should be done after twin or multiple fetus in fetu are excised.

/pdf/twin-fetus-in-fetu-in-a-child-a-case-report-and-review-of-4ayx556e54.pdf

Vijayendra Kumar

Papers

Juvenile polyposis syndrome

Prognosis of congenital tracheoesophageal fistula with esophageal atresia on the basis of gap length.

Twenty years' experience of steroids in infantile hemangioma--a developing country's perspective.

Noncommunicating isolated enteric duplication cyst in childhood

Twin fetus in fetu in a child: a case report and review of the literature