Bone Sarcoma With Fusion: Sarcoma With Varied Morphology and Amplification of Fusion Gene Distinct From Ewing Sarcoma.

Ewing sarcomas are typified by fusion to gene family members. Tumors with fusion partners other than family members and atypical histologic features pose significant diagnostic challenges and controversies as to their classification. In this article, we report a tumor with fusion in the left femur of a 43-year-old man and with unusual morphologic features that resemble undifferentiated high-grade sarcoma.

A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.

Background: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by hypertriglyceridemia. The genetic defect lies in a mutation of the LPL gene.

Methods: A Chinese neonate with non-consanguineous parents was incidentally found to have hypertriglyceridemia.