Cauda equina syndrome due to leptomeningeal carcinomatosis of the ovary.

BACKGROUND: Serous cystadenocarcinoma is the most common malignant ovarian tumor. 85% are associated with extraovarian spread at the time of diagnosis. Cauda equina syndrome due to leptomeningeal ovarian serous cystadenocarcinomatosis is rare. CASE: A 66-year-old female with stage IV ovarian papillary serous cystadenocarcinoma presented with perianal numbness and sphincter dysfunction. On exam she had decreased anal tone with saddle anesthesia. Her MRI did not demonstrate any leptomeningeal involvement. CSF showed malignant cells consistent with metastatic ovarian adenocarcinoma. She received intrathecal methotrexate, capecitabine and bevacizumab. She expired 8 months later. CONCLUSION: Ovarian cancer metastasizng to the cauda equina should be highly suspected based on the clinical presentation alone, even with unremarkable imaging studies. CSF cytology should be checked in cases presenting with cauda equina syndrome.

Identification of functionally variant MDR1 alleles among European Americans and African Americans.

MDR1 (P-glycoprotein) is an important factor in the disposition of many drugs, and the involved processes often exhibit considerable interindividual variability that may be genetically determined. Single-strand conformational polymorphism analysis and direct sequencing of exonic MDR1 deoxyribonucleic acid from 37 healthy European American and 23 healthy African American subjects identified 10 single nucleotide polymorphisms (SNPs), including 6 nonsynonymous variants, occurring in various allelic combinations. Population frequencies of the 15 identified alleles varied according to racial background. Two synonymous SNPs (C1236T in exon 12 and C3435T in exon 26) and a nonsynonymous SNP (G2677T, Ala893Ser) in exon 21 were found to be linked (MDR1*2 ) and occurred in 62% of European Americans and 13% of African Americans. In vitro expression of MDR1 encoding Ala893 (MDR1*1 ) or a site-directed Ser893 mutation (MDR1*2 ) indicated enhanced efflux of digoxin by cells expressing the MDR1-Ser893 variant. In vivo functional relevance of this SNP was assessed with the known P-glycoprotein drug substrate fexofenadine as a probe of the transporter's activity. In humans, MDR1*1 and MDR1*2 variants were associated with differences in fexofenadine levels, consistent with the in vitro data, with the area under the plasma level-time curve being almost 40% greater in the *1/*1 genotype compared with the *2/*2 and the *1/*2 heterozygotes having an intermediate value, suggesting enhanced in vivo P-glycoprotein activity among subjects with the MDR1*2 allele. Thus allelic variation in MDR1 is more common than previously recognized and involves multiple SNPs whose allelic frequencies vary between populations, and some of these SNPs are associated with altered P-glycoprotein function.

Familial occurrence of cancer in Basel city.

The Basel Familial Cancer Study was established in 1982. Data collection and statistical analysis suggest that genetic mechanisms play an important role in most cancer types. This is illustrated in breast and colorectal cancer patients whose first degree relatives were studied. The establishment of a familial cancer registry is most helpful for cancer risk determinations, surveillance and management programmes, identification of new cancer prone genotypes and etiological family studies. The family history should be included into future cancer control activities.