Faculty Bibliography

Congenital cystic airway malformation/congenital pulmonary airway malformation (CCAM/CPAM) of the lung is a rare but well-described malformative lesion of pulmonary parenchyma characterized by the abnormal maturation of airways along with an increase in terminal respiratory structures, resulting in cysts of variable sizes. Five types have been classified based on morphological analysis. Although the etiology of the lesion is still unclear, recent data suggest that bronchial atresia is a predisposing/associated anomaly. A described association between type 1 CCAM/CPAM and bronchioloalveolar carcinoma suggests that type 1 CCAM/CPAM may predispose to malignant transformation by as yet unidentified tumorigenic mechanisms. Here we studied epidermal growth factor receptor (EGFR) and K-RAS oncogene, 2 biological markers closely associated with tumorigenesis and altered in many types of tumors, including lung carcinomas. For this purpose, we used immunohistochemistry and gene sequencing in paraffin-embedded tissue. Our results demonstrate expression of EGFR in types 1 and 3 CCAM/CPAM, with a distinctive distribution and intensity, compared with that of type 2. Of special interest, mucinous areas in 2 cases of type 1 CCAM/CPAM lacked EGFR expression, whereas adjacent epithelial cystic linings were strongly positive. This supports the hypothesis that mucinous differentiation in CCAM/CPAM, always present in cases with malignant transformation, could be related to other molecular pathways. The K-RAS gene was screened for mutations usually found in lung carcinomas; however, no mutations were present in any of the studied samples. These findings support the notion that EGFR may play an important role in the pathogenesis and phenotype of CCAM/CPAM

Concomitant hereditary spherocytosis and sickle cell trait, although extremely rare, could potentially lead to splenic sequestration or infarction. We report here the first case of splenic infarction in a child with hereditary spherocytosis and sickle cell trait while flying on a commercial aircraft. The presence of hypoxia, hemoconcentrated erythrocytes, and sickle hemoglobin created the perfect environment for clinical sequelae

Activation of intracellular mitogenic signal transduction pathways driven by the ErbB family of receptor tyrosine kinases has been implicated in the development and/or progression of a variety of cancers. Studies on ErbB receptors in osteosarcoma have focused on HER-2 and have produced conflicting results with few studies evaluating the expression of the epidermal growth factor receptor (EGFR). In this study, we determined the level of expression of EGFR and the mutational status of the EGFR receptor in a subset of osteosarcoma tumor samples as well as in a series of established bone tumor-derived cell lines. EGFR protein expression was detected in the form of strong membranous staining by immunohistochemistry in 21 (57%) of 37 cases analyzed. Six of 12 (50%) osteosarcoma cell lines revealed moderate to high expression levels of EGFR. Two somatic alterations (E829E and R831C) were identified in the cytoplasmic domain of the EGFR gene in 1 of 10 tumor samples. The significance of these findings for the pathobiology of osteosarcomas will be investigated further

OBJECTIVE: To report and propose a consensus term for eight cases of a newly recognized, asymptomatic, rapidly growing unilateral labium majus mass without palpable borders in prepubertal girls, appearing to be temporally associated with the physiologic increase of adrenal hormones. METHODS: Histologic examination, special stains, and immunohistochemistry were performed on all cases. In our personal cases, electron microscopy and chromosomal analysis were also performed, together with pelvic magnetic resonance imaging (MRI), inguinal exploration, vaginoscopy with biopsies, and adrenal hormone levels. RESULTS: Of the eight cases, seven were Ashkenazi Jewish girls from the same area in New York City. The unilateral masses were asymptomatic, soft, without palpable borders. The overlying skin had a slightly tan peau d'orange surface. The masses could not be completely excised because they extended into the contiguous pelvic floor. Histologically, the masses were composed of bland hypocellular fibrous tissue extending into the deep subcutaneous tissue. The masses blended into the surrounding tissue and adjacent pelvic floor as shown by MRI preoperatively and postoperatively. Residual tissue did not progress after incomplete resection. CONCLUSION: These fibrous lesions develop in months at the time of physiologic increase in adrenal hormone secretion just before puberty and subsequently appear to stop growing. The surgeon should not attempt a complete removal but simply excise sufficient tissue for a reasonable cosmetic result and to confirm the diagnosis. The lesions reflect fibroblastic hyperplasia, which is possibly hormone-driven. The ethnic and geographic clustering of cases raises consideration of environmental exposures or genetic predisposition

Children with acquired immunodeficiency syndrome (AIDS) are at an increased risk for lymphoproliferative and neoplastic disorders. Included among these are smooth muscle neoplasms such as leiomyomas and leiomyosarcomas. There have been at least 15 reported cases of smooth muscle tumors in the approximately 8,000 children with AIDS, however the incidence in immunocompetent children is only two per ten million. The lesions in children with human immunodeficiency virus infection are usually found in the lung, liver, and gastrointestinal tract. Here, we present an unusual case of a 12-year-old African American girl with vertically acquired AIDS who presented to the pediatric emergency department with severe diffuse abdominal pain. She was ultimately found to have an appendiceal leiomyoma on abdominal exploration, the first reported case. Our report suggests that smooth muscle tumors of the appendix be included in the differential diagnosis of abdominal masses in children with AIDS