FOLFCIS Treatment and Genomic Correlates of Response in Advanced Anal Squamous Cell Cancer

Background

Treatment of advanced anal squamous cell cancer (SCC) is usually with the combination of cisplatin and 5-fluorouracil, which is associated with heterogeneous responses across patients and significant toxicity. We examined the safety and efficacy of a modified schedule, FOLFCIS (leucovorin, fluorouracil, and cisplatin), and performed an integrated clinical and genomic analysis of anal SCC.

Atypical teratoid/rhabdoid tumor evolving from an optic pathway ganglioglioma: case study

We report an atypical teratoid/rhabdoid tumor arising in a ganglioglioma from an 11-year-old male who had been treated over a nine-year period. A combined histologic, immunohistochemical, and molecular genetic analysis confirmed this diagnosis. Molecular genetic studies demonstrated a mutation in exon 9 of the INI1 gene in the tumor, which was not present in the patient's blood. This report is the first to describe progression of a ganglioglioma to atypical teratoid/rhabdoid tumor.     

Nodular Lymphoid Hyperplasia and Colo-Rectal Carcinoma

Two cases of colo-rectal carcinoma with prominent nodular lymphoid hyperplasia in adjacent bowel are presented. The normal incidence and associated conditions are discussed.     

Fusobacterium nucleatum: an emerging gut pathogen?

The Gram-negative, non-sporulating, obligately anaerobic species, Fusobacterium nucleatum, is rapidly gaining notoriety as a pathogen with a surprising number of associated diseases. Recently, we have found that F. nucleatum is a more common resident of the GI tract than originally thought, and thus, through several studies, we have attempted to determine its gut-relevant potential for virulence. We have found that F. nucleatum possesses a number of pathogenic traits with relevance to gut diseases such as inflammatory bowel disease (IBD), however, we have also documented strain-associated differences in virulence. An intriguing picture emerges that paints F. nucleatum as both conferring beneficial as well as detrimental effects on host cells; and we suggest that the ultimate effects of F. nucleatum infection in the gut are a consequence of the microbes with which this species aggregates.     

Ganglioglioma arising from dysplastic cortex

We report the case of a child who presented at 3 months of age with complex partial seizures, a linear facial nevus, and magnetic resonance imaging (MRI) showing delayed myelination and thickened cortex in the left temporal, parietal, and occipital regions. A repeat 3Tesla MRI scan with and without contrast at 6 months again showed cortical dysplasia of the left hemisphere. No other abnormalities were seen. A third scan at 3 years 6 months showed a 2.5 cm, round, hyperintense lesion on both T(2) and T(1) sequences. The lesion and surrounding dysplastic cortex were resected. Palmini grade IIA dysplasia and a ganglioglioma were diagnosed. These findings suggest that cellular components of cortical dysplasias have oncogenic potential.