A HOSPITAL - BASED DATABASE ANALYSIS CHARACTERIZING PATIENTS WITH ISOLATED AND MULTIPLE JUVENILE POLYPS OF THE COLON
Tanya Tajouri, Carmen Cuffari, Henry T Lynch, Christine Reyes, Thomas Attard, Pediatrics, University of Nebraska Medical Center, Omaha, NE; Pediatrics, The Johns Hopkins Children's Center, Baltimore, MD; Preventive Medicine, Creighton University, Omaha, NE; Pathology and Microbiology, University of Nebraska Medical Center / Children's Hospital, Omaha, NE; Pediatrics, University of Nebraska Medical Center, Omaha, NE
Juvenile Polyps (JP) are the most common polyps in the pediatric age group occurring in as many as 2% of children. In contrast to multiple and syndromic JP, isolated and sporadic JP entail no associated increased risk of colon cancer. The clinical and endoscopic factors that predispose patients to multiple colonic JP, hence potentially the need for more aggressive monitoring, are poorly understood.
To identify distinguishing demographic, clinical and endoscopic - histologic features that identify pediatric patients with isolated juvenile polyps from those with multiple colonic JP on a single or serial colonoscopy.
We performed a surgical pathology diagnosis-based, and procedure-billing coding based search identifying patients who underwent colonoscopy with polypectomy or biopsy of polypoid lesion/s at our institution (UNMC/CU/CMH) from 1995 - present. Whenever possible the clinical charts were reviewed and all accrued demographic, clinical and endoscopic - histologic data were entered into a dedicated database for analysis.
91 patients underwent 104 colonoscopies, multiple colonic polyps were diagnosed on initial colonoscopy in 23 patients and on serial endoscopy in 3 patients. A comparison of the demographic and endoscopic findings is presented in Table 1. No significant differences were noted in gender, racial background, presenting symptoms, family history of gastrointestinal malignancy, or histologic findings in non-polyp mucosa.
Patients with multiple (>3 – 5) juvenile polyps have been shown to have a heightened risk of early colon cancer; our study suggests that older patients are at a greater risk of harboring multiple JP, and that adequate evaluation for multiple polyps mandates pancolonoscopy given the propensity for proximal colonic involvement.
DE-NOVO FAMILIAL ADENOMATOUS POLYPOSIS PRESENTING AS AN ISOLATED JUVENILE POLYP AND HEMATOCHEZIA IN A CHILD WITH EXTENSIVE COLONIC AND GASTRIC ADENOMATOSIS
Thomas M Attard, Craig A Freisen, Susan Tinley, Henry T Lynch, Pediatrics, University of Nebraska Medical Center, Omaha, NE; Pediatrics, Children's Mercy Hospital, Kansas City, MO; Preventive Medicine, Creighton University, Omaha, NE; Preventive Medicine, Creighton University, Omaha, NE
Familial Adenomatous Polyposis (FAP) is a hereditary predisposition for extensive gastrointestinal polyposis, early intestinal and extraintestinal neoplasia and extraintestinal non-neoplastic features including congenital hypertrophy of the retinal pigment epithelium (CHRPE). Most cases of FAP are attributable to mutations in the APC gene on chromosome 5q21, up to 25% of patients have de-novo mutations. Classically patients are identified by virtue of their family history or present early with hemorrhage associated with adenomatous polyps, or in early adulthood with advanced malignancy.
The patient, a previously healthy 6 year old caucasian presented with a three month history of painless rectal bleeding, he had no family history of gastrointestinal polyps or early colon cancer. Physical exam was normal as were routine hematologic indices. The patient underwent colonoscopy with polypectomy of an isolated 1.2 x 1.0 cm polyp with superficial erosion discovered in the recto-sigmoid. The surrounding mucosa appeared slightly nodular and was biopsied. Polyp histology was consistent with juvenile polyp: prominent dilated glandular colonic epithelium with marked, nonspecific stromal inflammatory infiltrate, non-polyp mucosa however showed focal glandular irregularity with hyperchromasia and stratified epithelium, increased mitosis and minimal chronic inflammatory infiltrate consistent with focal adenomatous changes. The patient therefore underwent repeat colonoscopy and esophagogastroduodenoscopy which showed similar adenomatous changes throughout the colon and three small nodules in the gastric antrum similarly reported as adenomatous epithelium. The patient was referred for genetic work up which included opthalmologic referral and APC mutation testing (Protein Truncation Test). CHRPE was noted on fundoscopy and FAP testing showed a mutation in segment 3 of the APC gene (codons 1099 – 1694). Both parents had negative endoscopy and opthalmoscopy. Gene sequencing is underway and the patient is scheduled for repeat surveillance endoscopy.
This case highlights a previously unrecognized or coincidental association of FAP and reaffirms the relevance of de-novo APC gene mutation in children with adenomatosis coli.
JUVENILE POLYPOSIS: TWO CLINICAL PRESENTATION, ONE DISEASE
Pierre A Mouawad, Jean-Francois Mougenot, Nathalie Boige, Nicole Brousse, Christophe Faure, Pierre-Yves Vannerom, M Peuchmaur, Yan Revillon, Dominique Jan, Olivier Goulet, Pediatric Gastroenterology, Necker-Enfants Malades Hospital, Paris, France; Pediatric Endoscopy, Necker-Enfants Malades Hospital and Robert Debre Hospital, Paris, France; Pathology, Necker-Enfants Malades Hospital, Paris, France; Pathology, Robert Debre Hospital, Paris, France; Pediatric Surgery, Necker-Enfants Malades Hospital, Paris, France
Juvenile polyposis (JP) is defined by the presence of more than five juvenile polyps in the colon, or polyps at different levels of the GI tract, or any number of polyps and a positive family history of JP.
The aim of this study is the retrospective analysis of 10 pediatric cases of JP in order to discuss clinical presentation and the benefit of GI endoscopy.
Ten children with JP were included. The mean age at diagnosis is 5 years. The clinical presentation was: rectal bleeding (9/10), intestinal obstruction (2/10), protein-loosing enteropathy (2/10) and rectal polyp prolapse (2/10). None had cutaneous lentiginosis. Polyps were located in the stomach in 4 children, the jejuno-ileum in 3 children and the colon in 9 children.
Three children had diffuse GI polyposis, with polyps located from cardia to rectum. These patients were particular in the early apparition of symptoms (0.3, 1 and 4 years) and the presence of severe protein-loosing enteropathy. Other children had mainly colic polyps, associated with jejuno-ileal polyps in one case.
Colic polyps were located in all parts of the colon, but mainly in the recto-sigmoid area. Endoscopic electro-resection of polyps was the main treatment. 5 patients underwent surgery. Among the 3 patients with diffuse GI polyposis, one had total colectomy with ileorectal anastomosis, after resection of more than 2000 polyps; another 5 month-old, who presented with repetitive intussusseption, had surgical jejuno-ileal polyp resection by enterotomy; and the third passed away from infectious complications of parenteral nutrition.
Three other patients underwent total colectomy and ileorectal anastomosis in one case, left colectomy and coloanal anastomosis in the second and enterotomies for jejunal polyp resection in the third case.
GI endoscopy is the gold standard method for diagnosis and treatment of JP. However, when the colic polyp number exceeds 30, total colectomy with ileorectal anastomosis is indicated. Patients with diffuse GI JP need special artificial nutritional support, repetitive albumine and immunoglobuline infusions and frequent blood transfusions. Besides, when nutritional status and age permits, they should undergo total colectomy which is maybe the only measure to improve associated enteropathy.
CT COLONOGRAPHY (VIRTUAL COLONOSCOPY) IN CHILDREN - IT CAN BE DONE
Esther J Israel, Sudha Anupindi, James Perumpillichira, Diego Jaramillo, Michael E Zalis, Pediatric Gastroenterology and Nutrition, Massachusetts General Hospital, Boston, MA; Radiology, Massachusetts General Hospital, Boston, MA
To evaluate the technical feasibility of CT colonography (CTC) in children and correlate the results with standard colonoscopy (SC) in children with juvenile polyps.
Materials and Methods:
We evaluated three patients with a past history of juvenile polyps. After a standard bowel preparation, each patient underwent CTC without sedation, using multislice CT in the prone and supine positions without IV or oral contrast. Air was insufflated into the colon via a foley catheter, images were obtained and reviewed on a 3-D workstation. The CTC protocol utilized a technique resulting in a low radiation dose. SC under anesthesia was performed the same day.
Patient one was a 6.5 y.o. boy with one juvenile polyp diagnosed and fully resected on full colonoscopy one year prior to the study. Rectal bleeding was reported repeatedly over the following year, and he underwent CTC and SC. No polyp was seen on either study. He has had no further episodes of bleeding. Patient two was a 7.8 y.o. boy with a H/O 13 juvenile polyps noted on five previous colonoscopic exams. Upon returning for surveillance, CTC and SC were performed. No polyps were seen on either study. Patient three was a 9.8 y.o. girl with >10 juvenile polyps fully resected during three previous colonoscopies who came in for surveillance colonoscopy. CTC showed three polyps in the rectum, one at the rectosigmoid region, and one at the hepatic flexure region, all approximately 5–6 mm in size. SC showed one 25 mm polyp at the rectosigmoid junction, three 5 mm sessile polyps in the rectum and a small polypoid area in the hepatic flexure. The rectal polyps were removed and were consistent with prominent hyperplastic submucoal lymphoid follicles, the hepatic flexure lesion showed normal colonic mucosa, and the 25 mm polyp was a juvenile polyp. The patients tolerated the procedures well.
CT colonography is a new, efficient and safe approach to evaluate the colon in children. It can be performed easily without sedation in children over 6 y.o. and results in low radiation exposure. Preliminary evidence here suggests good correlation with standard colonoscopic examination in patients with juvenile polyps. Its role in surveillance in children with polyposis syndromes remains to be elucidated.
FIBEROPTIC 4TH DERIVATIVE VISIBLE SPECTROSCOPY DIFFERENTIATES ADENOCARCINOMA FROM NORMAL COLONIC TISSUE
L Rodriguez, D Breining, P Millman, W Spivak, Pediatric GI & Nutrition, Children's Hospital at Montefiore-Albert Einstein College of Medicine; Dept. of Pathology, Montefiore Med. Center-Albert Einstein College of Medicine, Bronx, NY
We have previously demonstrated that 4th derivative visible spectroscopy is sensitive enough to determine minor intermolecular interactions (incorporation of bilirubin into micelles) by delineating overlapping peaks in broad, visible absorption bands (Spivak et al, Biochem J 1988, 252:275–281) We have now applied 4th derivative visible spectroscopy to determine if this method can distinguish colonic tumors from normal colonic tissue with the intent that this method may be applicable during colonoscopy.
Fresh tissue derived from colonic resections was washed to remove blood and debris. Prior to fixation, a 2.5mm fiber optic probe was placed on the tissue and visible spectra were obtained with light tissue contact (no tissue impression or tissue blanching) from areas with and without visible involvement of tumor. A miniature diode array spectrometer with a tungsten-halogen light source was used to obtain visible spectra between 400–850nm and the data was stored on a notebook computer. Tissue sections were marked appropriately for later correlation with pathologic findings. The visible spectra were smoothed with a Fourier method to reduce noise and the maximal absorbance was normalized to 1000 units for all spectra. The 4th derivative spectra were plotted and the region between 670–695nm was used to differentiate tumors from normal tissue.
12 colonic surgical specimens were included in the study. 8 patients had colonic tumors (7 had adenocarcinoma and 1 had tubular adenoma), and 4 patients did not have mucosal tumors. Of the 27 scans taken in different areas of tumor in 8 patients with colonic tumors, only 1 scan had a peak in the region of normal tissue, 3 other scans of the same tumor were compatible with tumor. Of the 39 scans of normal tissue taken from the normal margins of the tumors and from 4 resections in which no tumor was present, only 4 scans fell in the range of tumor tissue. Thus, for any single scan, the method was 96% sensitive and 90% specific.
4th derivative fiberoptic spectroscopy is a sensitive and specific technique for differentiating normal colonic tissue from tumors. The method should be applicable as an inexpensive adjunct for the detection of tumors during colonoscopy.