Biomedical subjects
Publications and source records attributed to J A Bridge.
Cytogenetic analysis of a chrondromyxoid fibroma of bone and an extraskeletal myxoid chondrosarcoma revealed clonal chromosomal rearrangements involving chromosomes 2 and 13. The significance of these findings in these neoplasms of cartilaginous origin, one benign and one malignant, is discussed.
A desmoplastic fibroma of bone arose in the fibula of a 17-year-old boy with fibrous dysplasia. This may be the second case of this rare histopathologic association reported in the literature. Benign bone tumors have not previously been subjected to cytogenetic analysis. Analysis of this case revealed a primary abnormal clone trisomic for both chromosomes 3 and 5 and two subclones, one trisomic for chromosome 3 and one trisomic for chromosome 5. This case may also present the first description of nonrandom karyotypic abnormalities in a benign neoplasm of bone.
Complete heart block exists when the atria and ventricles beat completely independently of each other. It is heterogeneous with respect to pathogenesis. Occasionally, complete heart block may be symptomatic in infancy. Rarely, it is associated with genetic syndromes. Cardiac abnormalities are unusual in the 18p-syndrome. We describe a female stillborn infant who had 18p-syndrome with hydrops fetalis and complete heart block secondary to atrioventricular node calcification.
Cytogenetic analysis of a synovial sarcoma of the base of the tongue showed a reciprocal translocation involving chromosomes X and 18 [t(X;18)(p11.2;q11.2)]. This is a translocation recently reported to be characteristic of synovial sarcomas of the extremities. The histogenesis of synovial sarcoma is controversial. Our discovery of this translocation in an oral synovial sarcoma confirms the unity of origin of this neoplasm with the far more common synovial sarcomas of the extremity. Karyotypic analysis may prove useful in confirming the diagnosis of this uncommon neoplasm.
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The cytogenetic findings of two malignant fibrous histiocytomas from two unrelated patients are discussed. Both tumors were characterized by trisomy 7.
A total of 186 volunteers, including 40 hospital patients, participated in a cross-sectional survey of oropharyngeal colonization with Legionella pneumophila. Colonization was defined as the appearance of any L. pneumophila organisms on culture or a positive direct fluorescent-antibody (FA) test or both in the absence of signs or symptoms of pneumonia. The direct FA tests were performed on throat swabs, using a polyvalent conjugate directed against L. pneumophila serogroups I through IV. Throat swabs were cultured for L. pneumophila on a selective medium. Blood specimens were tested for antibody, using an indirect FA test and heat-killed polyvalent antigen for L. pneumophila serogroups I through IV. Eight people, none of whom had pneumonia or fever, had positive direct FA tests; no subject had a positive culture for L. pneumophila. Whether the positive direct FA results represent colonization cannot be stated with assurance. In any case, the results suggest that colonization occurs infrequently.
Heating of Legionella pneumophila and other Legionella spp. was studied to determine whether this technique could be used as a selective technique with contaminated clinical specimens. Studies of 13 different strains of Legionella spp. showed heterogeneous heat survival; heating at 60 degrees C for 1 to 2 min did not affect the survival of the majority of strains. Heating of four Pseudomonas aeruginosa strains at 60 degrees C for 2 min reduced bacterial counts by 98% or greater. Enterococci were heat tolerant, with virtually no inhibition under the same conditions. No inoculum effect was noted for any of the organisms tested. Heating of eight contaminated clinical specimens before plating on buffered charcoal-yeast extract medium reduced the numbers of contaminants on most plates but increased by only one the number of specimens yielding L. pneumophila. Plating the same specimens on selective media with or without heat pretreatment yielded L. pneumophila in every case. Heating of clinical specimens at 60 degrees C for 1 to 2 min before plating may occasionally increase the recovery of L. pneumophila from contaminated specimens, but this technique should not be generally used.
OBJECTIVE: To report a case of an extraskeletal myxoid chondrosarcoma (EMC) arising from the jugular foramen. EMCs are tumors usually seen in the deep soft tissues of the extremities and are rarely seen within the intracranial cavity. The histological differential diagnosis includes chordoma, conventional chondrosarcoma and chordoid meningioma, among others. A distinguishing feature of EMC is their characteristic reciprocal translocation t(9;22)(q22;q12). MATERIAL: A 63-year-old man presented with progressive hearing loss and gait imbalance. Magnetic resonance imaging showed a heterogeneously enhancing 2.4 cm mass in the cerebellopontine angle. A right far lateral transcondylar skull base approach with gross total removal of the tumor was performed. Intraoperative findings showed that the mass appeared to arise from the glossopharyngeal nerve within the jugular foramen. METHOD: Histology, immunohistochemistry, and fluorescence in situ hybridization studies were performed. RESULTS: Histological and immunohistochemical studies were compatible with the diagnosis of EMC. Fluorescence in situ hybridization studies showed disruption of the EWS gene locus at 22q12 and added further support to the diagnosis. CONCLUSIONS: We report a rare case of EMC arising from the jugular foramen, and the diagnosis of EMC can be supported by confirmation of disruption of the EWS gene locus.