Faculty Bibliography

Actinomycetomas are soft tissue bacterial infections that are in the differential for unusual masses of the extremities. Typical infectious agents include Actinomyces and Nocardia and are treated with long-term antibiotics. We report a rare case of Gordonia actinomycetoma that was misdiagnosed as Nocardia and subsequently required surgical excision in addition to antibiotic therapy.

Hidradenitis suppurativa is a debilitating inflammatory skin disease with a chronic course and often disappointing response to treatment. Though a minority of persons (20%) reports symptom remission during pregnancy, the vast majority experiences no relief (72%), and few experience clinical deterioration (8%). Disease flares are also observed post-partum. The pathophysiological basis for pregnancy-associated fluctuations in clinical status is currently unknown. Because most women with HS require ongoing management throughout pregnancy, it is important to evaluate the suitability and safety of current treatment options for pregnant women. The following review will outline current management strategies for HS and their compatibility with pregnancy and lactation.

BACKGROUND: The National Cancer Institute-60 (NCI-60) cell lines are among the most widely used models of human cancer. They provide a platform to integrate DNA sequence information, epigenetic data, RNA and protein expression, and pharmacologic susceptibilities in studies of cancer cell biology. Genome-wide studies of the complete panel have included exome sequencing, karyotyping, and copy number analyses but have not targeted repetitive sequences. Interspersed repeats derived from mobile DNAs are a significant source of heritable genetic variation, and insertions of active elements can occur somatically in malignancy. METHOD: We used Transposon Insertion Profiling by microarray (TIP-chip) to map Long INterspersed Element-1 (LINE-1, L1) and Alu Short INterspersed Element (SINE) insertions in cancer genes in NCI-60 cells. We focused this discovery effort on annotated Cancer Gene Index loci. RESULTS: We catalogued a total of 749 and 2,100 loci corresponding to candidate LINE-1 and Alu insertion sites, respectively. As expected, these numbers encompass previously known insertions, polymorphisms shared in unrelated tumor cell lines, as well as unique, potentially tumor-specific insertions. We also conducted association analyses relating individual insertions to a variety of cellular phenotypes. CONCLUSIONS: These data provide a resource for investigators with interests in specific cancer gene loci or mobile element insertion effects more broadly. Our data underscore that significant genetic variation in cancer genomes is owed to LINE-1 and Alu retrotransposons. Our findings also indicate that as large numbers of cancer genomes become available, it will be possible to associate individual transposable element insertion variants with molecular and phenotypic features of these malignancies.