Primary subcutaneous mixed-type liposarcoma of the thigh showing three simultaneous dedifferentiations: Report of an unusual case

Liposarcoma most commonly occurs in deep soft tissues of the limb and the retroperitoneum; however, its occurrence in the subcutaneous tissue is rare. Mixed-type liposarcoma (MTL) is the rarest subtype. We herein describe a unique case of MTL with three simultaneous dedifferentiations occurring in subcutaneous tissue of left thigh in a 45-year-old male. We briefly review the pertinent literature and report this case because of extreme rarity

The presynaptic glycine transporter GlyT2 is regulated by the Hedgehog pathway in vitro and in vivo

International audienceThe identity of a glycinergic synapse is maintained presynaptically by the activity of a surface glycine transporter, GlyT2, which recaptures glycine back to presynaptic terminals to preserve vesicular glycine content. GlyT2 loss-of-function mutations cause Hyperekplexia, a rare neurological disease in which loss of glycinergic neurotransmission causes generalized stiffness and strong motor alterations. However, the molecular underpinnings controlling GlyT2 activity remain poorly understood. In this work, we identify the Hedgehog pathway as a robust controller of GlyT2 expression and transport activity. Modulating the activation state of the Hedgehog pathway in vitro in rodent primary spinal cord neurons or in vivo in zebrafish embryos induced a selective control in GlyT2 expression, regulating GlyT2 transport activity. Our results indicate that activation of Hedgehog reduces GlyT2 expression by increasing its ubiquitination and degradation. This work describes a new molecular link between the Hedgehog signaling pathway and presynaptic glycine availability