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Biomedical subjects

J T Stocker

Publications and source records attributed to J T Stocker.

At least 19 recordsLinked to original sources

Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11.

The clinical, pathologic, and immunohistochemical features of a widely disseminated tumor with rhabdoid phenotype are described in nine infants < or = 3 months of age. Five neonates had tumor evident at birth, two of which had placental metastases. The average survival following diagnosis was < 6 weeks. None of the infants had an apparent primary tumor in either the kidney or brain. In four cases, the dominant mass involved the head and neck region, and in two cases, the primary mass was paraspinal. The histologic features were those of a high-grade, round cell neoplasm with abundant cytoplasm and containing cells with cytoplasmic filamentous inclusions. Immunohistochemical studies revealed polyphenotypic antigen expression. Genetic information was available from eight of nine cases. Karyotype analysis revealed abnormalities of chromosome band 22q11-12 in three of six tumors. Fluorescence in situ hybridization studies or molecular studies demonstrated 22q11.2 deletions in all five cases with available frozen tissue, two of which had translocations involving 22q by karyotype analysis. The similar clinical and pathologic findings in these rapidly fatal tumors in infants and the demonstration of abnormalities of chromosome 22q11 in a majority of the cases supports their histogenetic and nosologic relationship to the family of malignant rhabdoid tumors that typically occur in young children in several anatomic sites, including kidney, soft tissues, liver, and brain. Like neuroblastoma and rhabdomyosarcoma, malignant rhabdoid tumor can appear as disseminated disease at birth or shortly thereafter.

Chromosomes, Human, Pair 22

Pathology of arrested acinar development in postsurfactant bronchopulmonary dysplasia.

To define the pathology of bronchopulmonary dysplasia (BPD) in surfactant-treated patients (S-BPD), we reviewed 22 BPD patients (14 S-BPD and eight non-surfactant-treated [NS-BPD]) and 15 age-matched controls, the lungs from which had been processed after formalin inflation. These were studied for surfactant therapy, postconceptional age, crown-rump length, weight at autopsy, radial alveolar count (RAC), mean linear intercept (MLI), RAC/MLI ratio, and amount and extent of fibrosis. On trichrome staining, there was no alveolar septal fibrosis in the control group, whereas there was mild to moderate alveolar septal fibrosis in 5 of 14 S-BPD patients, of which three had fibrosis in most or all of the acini. In contrast, seven of eight NS-BPD had moderate to severe alveolar septal fibrosis in scattered acini throughout the lung. The patients were divided into two groups, with the first group having a postconceptional age at the time of death of up to 40 weeks' gestation. In group 1, the RAC in S-BPD (nine patients) was significantly lower than that of the controls (seven patients); mean, 4.14 and 5.13, respectively (P = .016), whereas the RAC in the NS-BPD (four patients) and the MLI in both S-BPD and NS-BPD were not statistically significantly different. In group 2, those with adjusted age greater than term, the mean RAC, a measure of acinar complexity, was 3.89 in the S-BPD (five patients) and 3.90 in the NS-BPD (four patients), whereas in the control group (eight patients), it was 5.79 (P = .0007). The mean MLI, a measure of alveolar size, was 0.21 and 0.17 in the S-BPD and NS-BPD groups, respectively, each of which was significantly greater than the mean value of 0.12 in the control group (P = .0003). The comparison of RAC/MLI ratios showed similar statistically significant differences. Based on these results, we conclude that (1) the amount of alveolar septal fibrosis is substantially less and tends to be more diffuse in S-BPD than in NS-BPD; (2) during the period after birth, there is a partial to complete arrest in acinar development (alveolar saccular and alveolar) of similar severity for S-BPD and NS-BPD; and (3) even though on histological examination there are minimal changes, RAC, MLI, and their ratio may be used to support the diagnosis of BPD and help in assessing the amount of lung damage that occurs in S-BPD.

Biological Products

Pulmonary inflammatory pseudotumor: radiologic features.

PURPOSE: To define the radiologic features of pulmonary inflammatory pseudotumor. MATERIALS AND METHODS: Between 1966 and 1994, 61 cases of pulmonary inflammatory pseudotumor involved 36 male and 25 female patients (age range, 17 months to 61 years; mean, 28 years). Clinical presentation, pathologic features, and radiologic findings were noted. RESULTS: At radiography, 52 patients had solitary peripheral nodules or masses, and extraparenchymal involvement--including hilar, mediastinal, and airway invasion--was found in 11. At computed tomography, 12 lesions were of heterogeneous attenuation and five, homogeneous. At T1-weighted magnetic resonance imaging, five lesions had intermediate signal intensity; of two lesions studied with T2-weighted imaging, two had high signal intensity; and the one lesion studied with gadolinium-enhanced imaging had diffuse enhancement. CONCLUSION: Pulmonary inflammatory pseudotumor was typically a solitary, peripheral, sharply circumscribed mass with an anatomic bias for the lower lobes. Local invasion and primary involvement of the mediastinum and hilar structures were unusual manifestations.

Adult

An approach to handling pediatric liver tumors.

Tumors and pseudotumors of the liver account for fewer than 2% of the tumors in children and vary considerably in incidence throughout the pediatric age range, with hepatoblastoma, infantile hemangioendothelioma, and mesenchymal hamartoma seen most frequently in the first 2 years of life and hepatocellular carcinoma, focal nodular hyperplasia, and undifferentiated "embryonal" sarcoma noted in older children. Despite the variety of malignant tumors seen in children and the number of patterns in individual tumors (eg, hepatoblastoma), the most important criterion for long-term prognosis is the stage of the tumor at the time of first resection. Accurate staging by the surgeon and pathologist is therefore the primary objective in examination of malignant hepatic tumors.

Adolescent

Infantile hemangioendothelioma of the liver.

Clinical and morphological findings in 91 patients with infantile hemangioendothelioma of the liver are reported. The study comprised 56 girls and 35 boys ranging in age from premature infant to 3 yr; one outlier patient was 18 yr old. Most patients with infantile hemangioendothelioma (87%) were first seen before the age of 6 mo. Congestive heart failure was evident in 15%. Skin hemangiomas were noted in 11%. Anemia, hyperbilirubinemia and increased AST level were present. Solitary lesions were more common than multiple ones (3:2). Immunohistochemical staining of tumor cells for factor VIII was positive in 20 of 21 cases tested; testing for blood group antigen was positive in 8 of 28 cases. Cytokeratin staining verified the presence of bile ducts, some of which appeared to be the result of transformation of injured liver. No pericytes were identified on electron microscopy. The 6-mo survival rate, based on 71 cases, was 70%. Average time of follow-up for the survivors was 7.7 yr. All deaths occurred during the initial presentation/hospitalization of infants, with the exception of two patients who died 3 mo and 7 mo after diagnosis. More recent analytic methods, including immunohistochemical stains and flow cytometric studies, do not contribute to the practical assessment of this tumor. Covariates with significant value in predicting death 6 mo after diagnosis included presence of congestive heart failure, jaundice, multiple tumor nodules and absence of cavernous differentiation.

ABO Blood-Group System

Hepatoblastoma.

Hepatoblastoma is the most frequently occurring liver tumor in children, accounting for over 25% pediatric hepatic tumors and nearly 50% of those that are malignant. Histologically, the tumor can be divided into the following six patterns: (1) fetal epithelial; (2) embryonal and fetal epithelial; (3) macrotrabecular; (4) small cell undifferentiated; and (5) mixed epithelial and mesenchymal type with teratoid features or (6) without teratoid features. Immunohistochemical studies display a wide variety of immunostaining with monoclonal antibodies particularly those specific for epithelial-derived components. Tumor cytogenetics show a high incidence of trisomy 20 and trisomy of all or part of chromosome 2. The developing liver displays many features similar to those seen in hepatoblastoma, including uniform hepatocytes and cords two cells thick separated by sinusoids displaying hematopoiesis. Hepatoblastomas display only minimal ductular differentiation, similar to the fetal development of the liver that does not display significant ductular development until well into the second trimester.

Child, Preschool

From the archives of the AFIP. Extralobar sequestration: radiologic-pathologic correlation.

Extralobar sequestration is a rare congenital anomaly that consists of pulmonary tissue anatomically separate from normal lung and usually deriving its blood supply from systemic vessels. The lesion typically manifests in the newborn period or early infancy with symptoms of respiratory distress. Less frequently, patients present in childhood or adulthood. Grossly and microscopically, the lesion resembles lung tissue. The typical radiologic finding is a homogeneous soft-tissue mass in the lower hemithorax. However, these lesions can also occur in the mediastinum, within the diaphragm, and, rarely, below the diaphragm. Radiologic diagnosis rests on identification of the systemic vascular supply. Although angiography has been routinely used in the past in evaluating these lesions, other modalities including ultrasound, computed tomography, and magnetic resonance imaging may demonstrate the anomalous feeding and draining vessels. Treatment of extralobar sequestration consists of surgical excision of the mass. Prognosis is usually favorable in the absence of associated congenital anomalies.

Bronchopulmonary Sequestration

Congenital cystic adenomatoid malformation.

Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as neonatal respiratory distress secondary to progressive expansion of the affected lung. Three distinct types have been described based on the size of the cysts and the microscopic appearance. Type I lesions are characterized by large cysts of varying sizes (measuring more than 2 cm in diameter), type II lesions typically contain cysts of a more uniform size (not exceeding 2 cm in diameter), and type III lesions contain microscopic cysts. Radiologic findings include single or multiple large cysts, multiple small cysts of uniform size, and solid-appearing masses. The treatment of choice is excision of the affected lobe. The prognosis is favorable in the absence of pulmonary hypoplasia, fetal hydrops, or associated congenital anomalies.

Cystic Adenomatoid Malformation of Lung, Congenita

Cloacal dysgenesis with urethral, vaginal outlet, and anal agenesis and functioning internal genitourinary excretion.

Cloacal dysgenesis, a rare anomaly, occurs in female infants when the Müllerian system differentiation fails to delineate the genitourinary and lower alimentary tracts. Embryologically, the dating of the lesion can be traced to a point between 4 and 5 weeks into gestation. The exact mechanism is usually not known. We observed an infant with cloacal dysgenesis involving urethral, anorectal, and vaginal outlet obstruction. Minimal hydronephrosis, absence of hydroureters, and pulmonary hypoplasia are all related to the cloacal dysgenesis.

Abnormalities, Multiple

Placental teratoma: a case report.

A case of placental teratoma is presented. The world's literature of 7 previous cases is cited, and the criteria for making this diagnosis, with emphasis on differentiation from a fetus amorphous, are reviewed. Lack of a recognizable umbilical cord and no recognizable skeletal development are the criteria used for diagnosing a teratoma.

Adult

Meconium periorchitis: a clinicopathologic study of four cases with a review of the literature.

Perforation of the bowel wall in utero, with meconium gaining access to the tunica vaginalis, results in meconium periorchitis. The clinical and pathologic features in four infants were studied; the findings were compared with those in the 20 cases reported in the literature. In the majority of cases, the intestinal perforation had apparently healed before birth, and the scrotal mass became increasingly obvious following birth. Cystic fibrosis was documented in only one case. A yellowish green paratesticular mass with multifocal dystrophic calcification was the principal gross finding. Lobules of fibromyxoid tissue containing the calcifications were separated by bands of connective tissue. A granulomatous reaction per se was not prominent in the four cases of the present study, although some authors have characterized the process as meconium granuloma. Before orchiectomy is performed in an infant with a scrotal mass, the possibility of meconium periorchitis should be considered.

Calcinosis

Pathologic features of long-standing "healed" bronchopulmonary dysplasia: a study of 28 3- to 40-month-old infants.

Alveolar septal fibrosis, the main residual feature in the "healed" stage of bronchopulmonary dysplasia (BPD), was the consistent finding in 28 infants who died at 3 to 40 months of age, all having had moderate to severe BPD in the neonatal period. The cause of death in 68 per cent of the cases was progressive respiratory failure related directly to the residual changes. An additional 18 pe cent of the infants died of pneumonia superimposed on the long-standing healed bronchopulmonary dysplasia. Cardiomegaly was present in 84 per cent of the cases; biventricular hypertrophy was present in 29 per cent of the cases, right ventricular hypertrophy alone in 21 per cent, and left ventricular hypertrophy alone in 21 per cent. Evidence of pulmonary hypertensive vascular disease was found in 68 per cent of the cases. The pulmonary changes of alveolar septal fibrosis are strikingly variable within individual infants, with moderate or severe fibrosis in one area and normally inflated or hyperinflated lung in the adjacent sublobule or lobe. It is postulated that this variability may be related to a protective effect of necrotizing bronchiolitis (a prominent feature of the acute stages of BPD), whereby the occlusion of the bronchioles shields the distal sublobule from the high oxygen tensions and ventilatory pressures used in treating BPD.

Bronchi