Classification of gastrointestinal stromal tumor syndromes.

Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract, thought to derive from neoplastic outgrowth of the interstitial cells of Cajal. Building on recent advances in recognition, classification and diagnosis, the past two decades have seen a changing paradigm with molecular diagnostics and targeted therapies. KIT and PDGFRA mutations account for 85-90% of GIST carcinogenesis. However, the remaining 10-15% of GISTs, which until recently were called KIT/PDGFRA wild-type GISTs, have been found to have one of the several mutations, including in the SDHA, B, C, D, BRAF and NF1 genes. Though most of such GISTs are sporadic, a number of families with high incidence rates of GISTs and other associated clinical manifestations have been reported and found to harbor germline mutations in KIT, PDGFRA, SDH subunits and NF1 The goal of this review is to describe the mutations, clinical manifestations and therapeutic implications of syndromic and inherited GISTs in light of recent studies of their clinicopathologic range and pathogenesis.

Acute pneumonitis secondary to subcutaneous silicone injection.

Following silicone injection, end organ toxicity can occur. To our knowledge this report documents the first case of silicone embolization in the Caribbean and serves to highlight an emergent danger associated with its illicit use for cosmetic purposes in this region.

Severe pretibial myxedema.

Although pretibial myxedema (PTM) occurs in 4.3% of patients with Graves's disease, the most severe variant, elephantiasis nostras verrucosa, is found in less than 1% of cases. The most frequent location of infiltration is the lower extremities, especially the pretibial areas and on the dorsum of the foot. The authors report one of the most severe cases of elephantiasis nostras verrucosa, following radioactive iodine therapy.