The c-myc and c-fos proto-oncogenes have several putative functions, including regulation of cell growth. In many neoplasms c-myc overexpression has been linked to poor prognosis. In order to study the role of c-myc and c-fos expression on the tumorigenesis, and the metastatic spread of osteosarcoma, frozen and paraffin-embedded tissue 38 primary osteosarcoma and 10 lung metastases were analyzed. The mRNA analysis was performed by quantitative reverse transcription-polymerase chain reaction and in situ hybridization. The protein expression was studied by Western blot analysis and immunohistochemistry. C-myc and c-fos were found overexpressed in a high percentage of the relapsed tumors and of the metastases, and overexpression of both oncogenes in the same tumor was strongly correlated to the development of metastases (p < 0.05), as 6 of the 7 primary tumors overexpressing both the oncogenes gave metastases. In conclusion, both c-myc and c-fos are involved in the growth and spread of osteosarcoma and a synchronous overexpression of both oncogenes is highly significant for a metastatic potential of a primary tumor.

We report a case in which Escherichia fergusonii, an emerging pathogen in various types of infections, was associated with cystitis in a 52-year-old woman. The offending strain was found to be multidrug resistant. Despite in vitro activity, beta-lactam treatment failed because of a lack of patient compliance with therapy.

We investigated the structure and the expression of various oncogenes in three of the most common human bone tumors-osteosarcoma (36 samples from 34 patients), giant cell tumor (10 patients), and chondrosarcoma (18 patients)-in an attempt to identify the genetic alterations associated with these malignancies. Alterations of RB and p53 were detected only in osteosarcomas. Alterations of c-myc, N-myc, and c-fos were detected in osteosarcomas and giant cell tumors. Ras alterations (H-ras, Ki-ras, N-ras) were rare. Chondrosarcomas did not contain any detectable genetic alterations. Our results suggest that alterations of c-myc, N-myc, and c-fos oncogenes occur in osteosarcomas, in addition to those previously described for the tumor suppressor genes RB and p53. Moreover, statistical analyses indicate that c-fos alterations occur more frequently in osteosarcoma patients with recurrent or metastatic disease.

Duane syndrome (MIM126800) is an autosomal dominant disease responsible for 1% of all strabismus cases and has been related to a 8q12-13 contiguous gene syndrome. We report on an insertion of chromosome region 8q13-q21.2 on to band 6q25 in a patient presenting with Duane syndrome, mental retardation, and other dysmorphisms. FISH analysis using chromosome 8 radiation hybrid LIA2L indicated a concurrent deletion within the 8q rearranged region. These results were corroborated by STR-PCR analysis and FISH using YAC contig WC8.8 disclosed a deletion in 8q13. Comparison of the two known patients with Duane syndrome associated with deletion of 8q identifies a small region of overlap (SRO) of < 3 cM extending from D8S533 and D8S1767 in which a Duane syndrome locus is assigned. In addition YAC analysis in our patient showed that 8q rearrangement was rather complex since 8q deletion and insertion occurred in two distinct segments separated by a region which maintained its location on 8q.Keywords: chromosome 8; deletion; Duane syndrome; mapping; complex rearrangement IntroductionDuane syndrome is a primary form of strabismus consisting of an ocular motility defect with absent or severely limited abduction and variable limitation of adduction, associated with bilateral globe retraction and narrowing palpebral fissure. 1 This autosomal dominant (MIM 126800) disorder is responsible for approximately 1% of all strabismus cases. Duane syndrome has been clinically subclassified by Huber in three forms which cause deficiency of binocular sight due to altered ocular motility, eventually associated with nistagmus and other ocular anomalies. The pathogenesis of this syndrome is unknown but, in some patients at least, a muscular/neuronal origin has been proved. 187-193 © 1998 Stockton Press All rights reserved 1018-4813/98 $12.00 http://www.stockton-press.co.uk/ejhg Although Duane syndrome is considered a clinically distinct condition, genetic heterogeneity has been suspected. In fact a few atypical cases of Duane syndrome have been described in association with deafness, renal defects, muscular, and skeletal anomalies 4-7 and chromosome imbalances. [7][8][9][10] In particular a contiguous gene syndrome consisting of Duane syndrome, branchio-oto-renal syndrome (BOR), hydrocephalus and trapeze aplasia was found in a patient with 8q12.2-q21.2 deletion. 7 We report on an insertion deletion of chromosome 8q13-q21.2 in a patient presenting with Duane syndrome type I, severe mental retardation, and minor limbs abnormalities. Molecular studies were carried out in order to analyse and map this Duane syndrome containing region. Materials and Methods PatientA 7-year-old girl, the first child of unrelated parents, was referred for cytogenetic analysis on the basis of severe mental retardation and dysmorphisms. Family history was unremarkable. At birth her length was 48 cm and weight 3250 g. At 7 years of age, she was 119 cm in height (5th centile) and weighted 25 kg (65th centile). On clinical evaluation she presented with microcephaly, bil...

We investigated the structure and the expression of various oncogenes in three of the most common human bone tumors-osteosarcoma (36 samples from 34 patients), giant cell tumor (10 patients), and chondrosarcoma (18 patients)-in an attempt to identify the genetic alterations associated with these malignancies. Alterations of RB and p53 were detected only in osteosarcomas. Alterations of c-myc, N-myc, and c-fos were detected in osteosarcomas and giant cell tumors. Ras alterations (H-ras, Ki-ras, N-ras) were rare. Chondrosarcomas did not contain any detectable genetic alterations. Our results suggest that alterations of c-myc, N-myc, and c-fos oncogenes occur in osteosarcomas, in addition to those previously described for the tumor suppressor genes RB and p53. Moreover, statistical analyses indicate that c-fos alterations occur more frequently in osteosarcoma patients with recurrent or metastatic disease.