Incidental GIST after appendectomy in a pediatric patient: a first instance and review of pediatric patients with CD117 confirmed GISTs.

A 7-year-old boy underwent uncomplicated laparoscopic appendectomy for acute appendicitis. Incidentally, he was found to have a spindle cell tumor with CD117 immunopositivity, consistent with gastrointestinal stromal tumor (GIST) in the appendix. Although commonly reported in adults, pediatric GISTs are rare gastrointestinal malignancies that occur in only 1.4-2.7% of children and adolescents. Due to the paucity of reports, data are insufficient to adequately characterize tumor behavior, recurrence, and survival. We present the first case of pediatric GIST in the appendix. In addition, a review of the literature for CD117 confirmed pediatric GISTs was conducted to summarize its clinical features and current treatment options.

Ethnic disparities in breast tumor phenotypic subtypes in Hispanic and non-Hispanic white women.

AIMS: Hispanic women are at a lower risk of getting breast cancer than non-Hispanic white (NHW) women, yet they experience a higher risk of mortality after diagnosis. There is some evidence to suggest differences in tumor pathology; however, very limited research has been published on Hispanic women. This represents one of the first studies to evaluate the prevalence of tumor markers and phenotypic subtypes that are associated with poorer prognosis (human epidermal growth factor receptor 2 [HER2], triple negative and basal-like tumors) among Hispanic women. METHODS: We reviewed pathology reports, obtained paraffin blocks of breast cancer tissue, and established tissue microarrays from NHW (n=119) and Hispanic women (n=69) who were Colorado participants in the 4-Corners Breast Cancer Study. We evaluated ethnic differences in the prevalence of tumor markers and phenotypic subtypes and assessed the contribution of risk factors in explaining the observed differences. RESULTS: Consistent with other studies, Hispanic women had a higher prevalence of estrogen receptor-negative tumors compared with NHWs (36.2% vs. 22.7%, p=0.05). Hispanics also had an unexpectedly higher proportion of HER2-positive tumors compared with NHWs (31.9% vs. 14.3%, p<0.01). Independent of other prognostic factors, Hispanics were 2.8 times more likely to have a HER2-positive tumor (95% confidence interval [CI] 0.98-7.86). Hispanics were less likely to have the more favorable luminal A subtype, but no significant differences were observed for the less favorable basal-like or triple negative subtypes. However, there were suggestive differences when considering menopausal status. CONCLUSIONS: These findings provide evidence that breast cancers among Hispanic women comprise a distinct spectrum of tumor subtypes when compared with NHW women.

Ossifying lipoma of the cervical spine.

The authors present the case of a 21-month-old girl with a posterior cervical subcutaneous/spinal lipoma that contained heterotopic bone. The patient demonstrated no neurological deficits and the lesion was resected without complication. The lesion was determined to be an ossifying lipoma. The literature on ossifying lipomas and osteolipomas is reviewed and the differences between the two are enumerated.

A curious isolated cystic lesion of the membranous atrioventricular septum.

We present the case of an isolated cystic lesion of the atrioventricular component of the membranous septum of unclear aetiology, but responsible for cardiomegaly and benign disturbances of cardiac rhythm. As far as we are aware, this type of lesion has not previously been documented.

Kindler syndrome: a new mutation and new diagnostic possibilities.

BACKGROUND: Kindler syndrome (KS) is a rare genetic disorder that is characterized by blistering in infancy, followed by the onset of poikiloderma and photosensitivity in childhood. The recently elucidated molecular pathogenesis involves mutations in KIND1, a gene encoding the protein kindlin-1, which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes. OBSERVATIONS: We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age. His skin showed diminished staining with anti-kindlin-1 antibody, and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND1. Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old, before he developed poikiloderma and photosensitivity. CONCLUSIONS: In this case, a combination of a known mutation (R271X) and a newly described mutation (1755delT) in the KIND1 gene produced loss of function in kindlin-1, leading to the clinical features of KS. Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity. In infancy, electron microscopy can enable early, accurate diagnosis of KS.

Xanthogranulomatous pyelonephritis.

Xanthogranulomatous pyelonephritis is a rare condition in children. A 7-year-old boy developed right flank pain and tenderness 1 month after an appendectomy. Abdominal computed tomography scan documented a right renal mass. A right nephrectomy was performed. The pathological report documents xanthogranulomatous pyelonephritis. He experienced an uneventful recovery. Xanthogranulomatous pyelonephritis should be included in the differential diagnosis of children with fever, weight loss, flank tenderness, and a renal mass.

Portopulmonary hypertension in pediatric patients.

OBJECTIVES: To investigate the clinical presentation, manifestations, and response to therapy of portopulmonary hypertension (PPHTN) in pediatric patients. STUDY DESIGN: This study was a retrospective chart review describing the evaluation and course of 7 patients with PPHTN. RESULTS: Causes of portal hypertension (HTN) included biliary atresia (3 cases), cavernous transformation of the portal vein (2 cases), and primary sclerosing cholangitis and cryptogenic cirrhosis (1 case each). The median interval from the diagnosis of portal HTN to PPHTN was 12.1 years. Four patients presented with a new heart murmur, 4 presented with syncope, and 3 presented with dyspnea. Although electrocardiograms (ECGs) and chest x-rays were normal in 3 and 2 patients, respectively, echocardiograms diagnosed pulmonary HTN in all 7 patients. Five patients had cardiac catheterizations; the average mean pulmonary artery pressure was 65 +/- 20 mm Hg. Response to therapy was variable, and 4 patients died. Postmortem lung tissue examination revealed plexiform lesions and pulmonary arteriopathy. CONCLUSIONS: Because symptoms are subtle and may be overlooked, pediatric patients with portal HTN who develop a new heart murmur, dyspnea, syncope, or who are being evaluated for liver transplantation require evaluation for PPHTN. ECG and chest x-ray are insensitive screens for PPHTN. An echocardiogram and cardiology evaluation is essential for the diagnosis.

Gliomatosis peritonei and teratomatous implant with carcinomatous transformation presenting 54 years following oophorectomy for dermoid cyst.

BACKGROUND: Gliomatosis peritonei is a rare condition associated with ovarian teratomas in which benign glial implants are identified on the peritoneal surfaces of the abdomen. The implants have been identified at initial surgery and at second-look laparotomy. CASE: Here, we present a case of an 82-year-old female who was diagnosed with gliomatosis peritonei 54 years after her initial surgery for an ovarian dermoid tumor. A separate teratomatous implant containing focally invasive adenocarcinoma was also present. CONCLUSION: This is by far the longest interval between initial diagnosis and identification of glial implants reported. Additionally, the presence of a separate malignant teratomatous implant suggests that teratomatous implants may retain malignant potential, in contrast to implants composed of purely benign glial tissue.

Development of a handheld computer documentation system to enhance an integrated primary care clerkship.

Documentation systems are used by medical schools and residency programs to record the clinical experiences of their learners. The authors developed a system for their school's (Dartmouth's) multidisciplinary primary care clerkship (family medicine, internal medicine, pediatrics) that documents students' clinical and educational experiences and provides feedback designed to enhance clinical training utilizing a timely data-reporting system. The five critical components of the system are (1) a valid, reliable and feasible data-collection instrument; (2) orientation of and ongoing support for student and faculty users; (3) generation and distribution of timely feedback reports to students, preceptors, and clerkship directors; (4) adequate financial and technical support; and (5) a database design that allows for overall evaluation of educational outcomes. The system, whose development began in 1997, generated and distributed approximately 150 peer-comparison reports of clinical teaching experiences to students, preceptors, and course directors during 2001, in formats that are easy to interpret and use to individualize learning. The authors present report formats and annual cost estimate comparisons of paper- and computer-based system development and maintenance, which range from $35,935 to $53,780 for the paper-based system and from $46,820 to $109,308 for the computer-based system. They mention ongoing challenges in components of the system. They conclude that a comprehensive documentation and feedback system provides an essential infrastructure for the evaluation and enhancement of community-based teaching and learning in primary care ambulatory clerkships, whether separate or integrated.

An analysis of students' clinical experiences in an integrated primary care clerkship.

PURPOSE: Combining complementary clinical content into an integrated clerkship curriculum should enhance students' abilities to develop skills relevant to multiple disciplines, but how educational opportunities in primary care ambulatory settings complement each other is unknown. The authors conducted an observational analytic study to explore where opportunities exist to apply clinical skills during a 16-week integrated primary care clerkship (eight weeks of family medicine, four weeks of ambulatory pediatrics, and four weeks of ambulatory internal medicine). METHOD: Using handheld computers, students recorded common problems, symptoms, and diagnoses they saw. The students also recorded information about the educational process of the clerkship. Two data files were created from the database. Descriptive statistics were used to characterize the students' clerkship experiences, and ANOVA was used to evaluate differences among these blocks within the clerkship. RESULTS: Students encountered different frequencies of presenting symptoms, the majority of which occurred in pediatrics (23.2 per student per week versus 16.3 in medicine and 16.8 in family medicine; p =.01). Students provided more behavioral change counseling in family medicine (5.2 episodes per student per week versus 4.2 and 2.0 in internal medicine and pediatrics, respectively; p =.01), and they performed more clinical procedures in family medicine (1.9 per student per week versus 0.6 and 1.1 in pediatrics and internal medicine, respectively; p =.001). Students were more likely to encounter specific conditions in internal medicine (35.3 per student per week versus 30.0 and 21.4 in family medicine and pediatrics, respectively; p =.01). Elements of the teaching and learning processes also differed by clerkship. CONCLUSIONS: Very little overlap was found in symptoms, conditions, procedures, and other educational opportunities in the ambulatory pediatrics, internal medicine, and family medicine blocks that constitute the integrated primary care clerkship. The blocks provided different and complementary learning opportunities for students. These findings will assist in clerkship planning and in guiding students to seek opportunities that will ensure educational excellence.