Isochromosome Xq in Klinefelter syndrome: report of 7 new cases.

In this collaborative study we report on 2 prenatally and 5 postnatally diagnosed cases with a 47,X,i(Xq),Y chromosomal constitution. Excepting tall stature, the 5 adult patients showed all typical manifestations of Klinefelter syndrome. Taken together with previously reported cases, these data suggest that Klinefelter syndrome with isochromosome Xq has a favorable prognosis with normal mental development, and with normal-to-short stature. The prevalence of this Klinefelter variant is calculated to be between 0.3-0.9% in males with X chromosome polysomies.

Cytogenetic survey of 32 cancers of the prostate.

Cytogenetic studies after short-term culture were performed on 32 adenocarcinomas of the prostate from patients without prior treatment. The tumor specimens, ranging from stage B1 to D1, were obtained by radical prostatectomy or diagnostic biopsies. Fourteen tumors showed a normal diploid chromosome complement in all metaphases examined. Clonal chromosomal alterations were detected in 16 tumor samples and the remaining two cases contained double minute (dmin) chromosomes in some cells. The most frequent numerical changes included loss the Y chromosome and trisomy 7, both found in four cases. The only recurrent structural aberration was del(10)(q24), seen in three cases both as a sole anomaly and within multiple rearrangements. Six patients showed cytogenetically unrelated clones. The occurrence of the chromosomal changes found in this study shows no relationship to certain histopathologic characteristics of the tumors. The recurrent finding of del(10)(q24) as sole anomaly and the evidence for clonal evolution in one patient demonstrates that this change is an early karyotypic event which may be important for the pathogenesis in at least a subset of prostatic cancers.

Analysis of K-ras mutations in pancreatic tissue after fine needle aspirates.

The majority of pancreatic carcinomas contain a mutation at codon 12 of the K-ras oncogene. We have analysed 87 samples from 76 patients who underwent surgery because of different pancreatic diseases to evaluate whether the detection of K-ras mutations may be helpful to discriminate between chronic inflammation and neoplastic growth. Mutation analysis was performed using a semi-nested PCR followed by a selective restriction enzyme digestion. The correlation of clinical follow ups with the results of the molecular analysis was performed from 47 patients. K-ras mutations were detected in 50% of adenocarcinomas and no point mutation was found in normal pancreatic tissue and in tumor tissue from entities other than pancreas. Otherwise, K-ras mutations were detected in tissue samples from two patients with chronic pancreatitis, and one patient was found to have an adenocarcinoma after additional clinical investigation. Further studies especially follow ups will be helpful to get a better insight into the pathogenesis of pancreatic tumors and may be useful as an early diagnostic test.