Primary malignant melanoma of the cervical spinal nerve root

The authors report on a case of primary malignant melanoma of the 7th cervical spinal nerve root in a 45-year-old woman. Neuro-radiological features of this extra-dural mass were suggestive of a nerve sheath tumor. The lesion underwent total gross resection through the anterolateral approach. The patient's postoperative course was uneventful. Histopathological investigation confirmed malignant melanoma. There was no evidence of tumor recurrence or other melanotic lesions on regular follow-up examinations until the postoperative eighth month. When treating a common, benign-looking lesion of the cervical spinal nerve root, surgeons should be aware of the potential to encounter such a malignant tumor.     

Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1

Background: Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic counselling. The cause of FS is unknown. Methods: We have used array comparative genomic hybridisation (array CGH) to screen patients who have CDH and additional phenotypic anomalies consistent with FS for cryptic chromosome aberrations. Results: We present three probands who were previously diagnosed with FS who had submicroscopic chromosome deletions detected by array CGH after normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving chromosome band 15q26.2 and one male had a deletion of chromosome band 8p23.1. Conclusions: We conclude that phenotypes similar to FS can be caused by submicroscopic chromosome deletions and that high resolution karyotyping, including array CGH if possible, should be performed prior to the diagnosis of FS to provide an accurate recurrence risk in patients with CDH and physical anomalies consistent with FS.     

Genetic characterization of immortalized human prostate epithelial cell cultures. Evidence for structural rearrangements of chromosome 8 and i(8q) chromosome formation in primary tumor-derived cells

We have utilized a combination of conventional and spectral karyotyping (SKY) techniques and allelotype analysis to assess numerical and structural chromosome alterations in two cell lines derived from normal human prostatic epithelium, and three cell lines derived from human prostate primary tumor epithelium, immortalized with the E6 and E7 transforming genes of human papilloma virus (HPV) 16 or the large T-antigen gene of simian virus 40 (SV40). These studies revealed trisomy for chromosome 20 and rearrangements involving chromosomes 3, 4, 8, 9, 10, 16, 17, 18, 19, 21, or 22. In addition, the four HPV-immortalized cell lines exhibited extensive duplications or translocations involving the 11q chromosomal region. Interestingly, allelotyping data disclosed loss of 8p sequences in two of the three primary tumor-derived cell lines, and SKY data revealed that the loss of 8p sequences was directly due to i(8q) chromosome formation and/or other structural alterations of chromosome 8. This provides intriguing evidence that 8p loss in primary human prostate tumors may, in some cases, result from complex structural rearrangements involving chromosome 8. Moreover, the data reported here provide direct evidence that such complex structural rearrangements sometimes include i(8q) chromosome formation.