Low-Grade Appendiceal Mucinous Neoplasm in an Adolescent Patient With Untreated Crohn's Disease.

Appendiceal mucinous neoplasms are rarely diagnosed in pediatric patients. We present a 16-year-old adolescent boy with severe Crohn's disease who was not on maintenance medication for his underlying diagnosis. He was referred for nutritional optimization and small bowel obstruction. An emergent laparoscopic ileocecectomy with primary ileocolonic anastomosis was carried out secondary to acute peritonitis. Small bowel pathologic findings were consistent with Crohn's disease with low-grade appendiceal mucinous neoplasm (LAMN) of the appendix.

Two Rare Cases of Hepatocellular Carcinoma after Kasai Procedure for Biliary Atresia: A Recommendation for Close Follow-Up.

The instigation of the Kasai procedure in infants who are born with biliary atresia has led to increased survival in this population for over half a century. The many complications that arise as a result of biliary atresia led to an early death for most patients. However, the Kasai procedure is not without its own impediments. Among them is the development of hepatocellular carcinoma. We present two cases of hepatocellular carcinoma, after Kasai procedure, from two different age groups, as a recommendation that these patients should be even more closely monitored. Furthermore, if they are in need of transplant, we recommend that the explanted livers be carefully examined, as the tumor may not have been diagnosed preoperatively.

Possible Genetic Origin of Limb-Body Wall Complex.

Limb body wall complex (LBWC) is characterized by multiple severe congenital malformations including an abdominal and/or thoracic wall defect covered by amnion, a short or absent umbilical cord with the placenta almost attached to the anterior fetal wall, intestinal malrotation, scoliosis, and lower extremity anomalies. There is no consensus about the etiology of LBWC and many cases with abnormal facial cleft do not meet the requirements for the true complex. We describe a series of four patients with LBWC and other malformations in an attempt to explain their etiology. There are several reports of fetuses with LBWC and absent gallbladder and one of our patients also had polysplenia. Absent gallbladder and polysplenia are associated with laterality genes including HOX, bFGF, transforming growth factor beta/activins/BMP4, WNT 1-8, and SHH. We postulate that this severe malformation may be due to abnormal genes involved in laterality and caudal development.

Surgical management of bronchopulmonary malformations.

BACKGROUND: Bronchopulmonary malformations (BPM) are rare conditions, which typically arise below the carina and can result in significant morbidity (infection and/or hemorrhage) and mortality (respiratory failure). MATERIALS AND METHODS: All children with BPM surgically treated from 2001-2014 at a tertiary care children's hospital were identified. Patient demographics, surgical indications, procedure type, estimated blood loss, pathology, perioperative complications, length of stay, and outcomes were analyzed. RESULTS: A total of 41 BPM patients underwent surgery with 98% overall survival (one abdominal BPM expired) but 100% for thoracic lesions. Resections were performed thoracoscopically (37%), thoracoscopy converted to open (22%), and via thoracotomy (37%). Poor visualization (67%) or inability to tolerate single lung ventilation (33%) led to conversions. No conversions resulted from hemorrhage or received blood transfusions. Patients with prenatally diagnosed BPM were more likely to undergo thoracoscopic surgery (odds ratio [OR], 18.2) versus nonprenatally diagnosed, P = 0.002. Open/converted patients had longer chest tube days (6.2) versus thoracoscopic (2.9), P = 0.048. Additionally, respiratory distress was a more common indication in patients aged <4 mo (OR, 28.0) versus ≥4 mo and <6 kg (OR, 40.5) versus ≥6 kg, P < 0.001. Open resections were more common in patients aged <4 mo (OR, 26.3) versus ≥4 mo, P = 0.002. Operative time was shorter and estimated blood loss (mL/kg) was greater for <6 versus ≥6 kg, P < 0.05. CONCLUSIONS: BPM resections have high overall survival. Chest tube days are shorter among thoracoscopic patients, but conversion to thoracotomy can avoid hemorrhage and need for transfusion. Size and respiratory distress limit use of thoracoscopy in young infants with BPM.

Heterotopic gastric mucosa mimicking a Meckel's diverticulum in a young girl.

Heterotopic gastric mucosa (HGM) is a rare, but acknowledged source of gastrointestinal pathology in pediatric patients. Sometimes clinically confused with a Meckel's diverticulum, HGM diagnosis is often made postoperatively by pathology. We present a case of jejunal HGM with a positive technetium pertechnetate scan in the right lower quadrant that resembled a Meckel's diverticulum.

Allantoic, vitelline, and "hybrid" embryonic vestiges of the umbilical cord: an immunohistochemical study.

The embryonic origin of umbilical cord vestiges is well documented; however, their immunophenotype is unknown. This study was conducted to determine whether vitelline and allantoic remnants can be differentiated using immunohistochemical markers. All allantoic remnants were stained with p63 and were negative for CDX2, whereas the vitelline remnants stained with CDX2 and were negative for p63. An unexpected finding was a small number of morphologically ambiguous cases that stained with both markers in a complimentary manner. The term "hybrid" remnant is proposed for these remnants.

Long-term survival of women with locally advanced breast cancer with ≥ 10 involved lymph nodes at diagnosis.

BACKGROUND: Axillary lymph node status at diagnosis remains the strongest predictor of long-term survival in breast cancer. Patients with more than ten axillary lymph nodes at diagnosis have a poor long-term survival. In this single institutional study, we set out to evaluate the prognosis of this high-risk group in the era of multimodality therapy. MATERIALS AND METHODS: In this retrospective study, we looked at all breast cancer patients with greater than ten axillary lymph nodes diagnosed at Mount Sinai Medical Center (MSMC) from January 1st 1990 to December 31st 2007 (n=161). In the univariate analysis, descriptive frequencies, median survival, and 5- and 10-year survival rates were estimated for common prognostic factors. A multivariate prognostic analysis for time-to-event data, using the extended Cox regression model was carried out. RESULTS: With a median and mean follow-up of 70 and 89.9 months, respectively, the overall median survival was estimated to be 99 months. The five-year disease-free survival (DFS) was 59.3% and the ten-year DFS was 37.9%, whereas the five- and ten-year overall survival (OS) was 66.6% and 43.9%, respectively. Multivariate analysis revealed a significant improvement in DFS among black patients compared to whites (p=0.05), improved DFS and OS among young patients (ages 21-45) compared to elderly patients (age greater than 70) (p=0.00176, p=0.0034, respectively), and improved DFS and OS among patients whose tumors were ER positive (p=0.049, p=0.0034). CONCLUSIONS: In this single institution study of patients with greater than 10 positive axillary nodes, black patients had a significantly improved DFS compared with white patients. Young age and ER tumor positivity was associated with improved outcomes. Using multivariate analysis, there were no other variables associated with statistically significant improvements in DFS or OS including date of diagnosis. Further work is needed to improve breast cancer survival in this subgroup of patients.

Interesting case of subependymoma of the spinal cord.

BACKGROUND CONTEXT: Subependymomas are rare, slow-growing, and usually noninvasive/nonaggressive World Health Organization Grade I tumors that tend to occur in the ventricles. Their most common site of occurrence is the fourth ventricle followed by the lateral ventricles. Spinal cord subependymomas typically manifest as cervical and cervicothoracic intramedullary or, rarely, extramedullary mass lesions. They often present clinically with pain and neurologic symptoms, including motor, sensory, urinary, and sexual dysfunction. Histologically, there are hypocellular areas with occasional clusters of cells and frequent microcystic changes, calcifications, and hemorrhage. Radiologically, subependymomas generally manifest as eccentric well circumscribed nodular lesions with mild-to-moderate enhancement. PURPOSE: To highlight an interesting and rare presentation for subependymoma of the spinal cord. STUDY DESIGN: This is a case report of a single patient in whom a subependymoma was resected from the cervical spinal cord with return to normal functioning. METHODS: Clinical examination, magetic resonance imaging evaluation, surgical resection, and histological analysis were performed for diagnosis and treatment of this patient. RESULTS: The patient experiencing myelopathy symptoms underwent a surgical resection of cervical spinal cord subependymoma that resulted in return to normal function. CONCLUSIONS: Subependymoma should be included in the differential diagnosis of atypical presentations for myelopathy, as discrete surgical resection can result in good outcome.

Precursor B-Cell Acute Lymphoblastic Leukemia/Lymphoma with L3 Morphology, Philadelphia Chromosome, MYC Gene Translocation, and Coexpression of TdT and Surface Light Chains: A Case Report.

Acute lymphoblastic leukemia is predominantly found in children. It is a neoplasm of precursor cells or lymphoblasts committed to either a B- or T-cell lineage. The immature cells in B-acute lymphoblastic leukemia/lymphoma can be small or medium sized with scant or moderate cytoplasm and typically express B-cell markers such as CD19, cytoplasmic CD79a, and TdT without surface light chains. These markers, along with cytogenetic studies, are vital to the diagnosis, classification, and treatment of these neoplasms. We present an unusual case of a precursor B-cell ALL, in an 82-year-old woman, who presented with pancytopenia and widespread lymphadenopathy. The cells show L3 morphology (Burkitt-like lymphoma) with coexpression of TdT and surface light chains in addition to an MYC gene translocation and Philadelphia chromosome.

A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review.

INTRODUCTION: Characterized by the development of hundreds to thousands of colonic adenomas, classic familial adenomatous polyposis (FAP) is one of the most common hereditary syndromes associated with an increased risk of colorectal cancer. Several studies have attempted to correlate specific APC mutations with clinical phenotype.6 However, there is considerable variability in the expression of specific phenotypes within families and among individuals with identical mutations.7 CASE PRESENTATION: A 30 year-old Hispanic female presented to the emergency department with a 2-week history of persistent, worsening, left lower quadrant abdominal pain. She had no family history of malignancy. Sigmoidoscopy revealed innumerable polyps in the rectum and sigmoid colon and a large mass in the sigmoid colon. Biopsy of the mass revealed a moderately differentiated adenocarcinoma invading the subserosa. Endoscopy revealed innumerable polyps. Genetic testing of the patient via southern blot revealed a germline APC mutation 3927del5, resulting in a premature truncation of the APC protein at amino acid position 1312. CONCLUSION: Genetic information has only recently started being incorporated into clinical care. More research and randomized clinical trials need to be conducted to definitively characterize random mutations. Once these mutations are further understood, FAP patients may be able to be risk stratified and this may ultimately improve the screening, diagnosis, and treatment of this rare condition.

Balamuthia mandrillaris and Acanthamoeba amebic encephalitis with neurotoxoplasmosis coinfection in a patient with advanced HIV infection.

We describe a patient with advanced HIV infection and Balamuthia mandrillaris and Acanthamoeba amebic encephalitis with Toxoplasma gondii coinfection. A multidisciplinary effort and state-of-the-art diagnostic techniques were required for diagnosis. Our patient is the first reported case of an HIV-infected person with dual Balamuthia mandrillaris and Acanthamoeba amebic encephalitis with neurotoxoplasmosis coinfection.

Typical bronchial carcinoid metastasizing to the brain: a case presentation.

INTRODUCTION: Typical bronchial carcinoid tumors are known for their relatively indolent behavior. There are only four reported cases in the medical literature describing typical bronchial carcinoids metastasizing to the brain. Little is known about the pathogenesis and presentation of this disease due to the very small patient population. CASE PRESENTATION: A 67-year-old Hispanic female presented to our hospital with a three-week history of right arm numbness and poor coordination. Computed tomography (CT) with intravenous contrast of the brain and subsequent magnetic resonance imaging demonstrated multiple enhancing nodular densities throughout the brain. CT with intravenous contrast of the chest, abdomen, and pelvis revealed a left hilar mass and a medial left upper lobe mass. Histopathological findings were consistent with a neuroendocrine neoplasm of bronchial origin. CONCLUSION: Although metastases to the central nervous system are very frequent with small cell carcinomas, their presence is very uncommon in well-differentiated neuroendocrine tumors such as the one we present here. This case raises questions about whether these tumors contain biomarkers that might predict a more aggressive behavior and if these patients might benefit from aggressive interventions similar to those taken in small cell carcinomas, such as prophylactic cranial radiation.