Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Osteosarcomas are aggressive bone tumours with a high degree of genetic heterogeneity, which has historically complicated driver gene discovery. Here we sequence exomes of 31 tumours and decipher their evolutionary landscape by inferring clonality of the individual mutation events. Exome findings are interpreted in the context of mutation and SNP array data from a replication set of 92 tumours.

Enthesopathy of the pectoralis major tendon mimicking osteoid osteoma. A case report with an unfortunate series of events.

Background: we present the case of an enthesopathy at the proximal humerus which was initially - due to the clinical history and a positive bone scintigraphy - regarded suspicious for metastatic breast cancer in a 50-year-old woman.

Case Report: after complementing radiographs and a magnetic resonance (MR) examination exhibiting a focally contrast enhancing juxtacortical osteolysis of the humerus, a metastasis seemed radiologically unlikely, but besides a traction-related periosteal reaction of the pectoralis major tendon an unusual osteoid osteoma could not unequivocally be ruled out. Although radiological follow-up was recommended the patient insisted on a surgical resection that was performed subsequently and confirmed an enthesopathy.

The neonatal lung--physiology and ventilation.

This review article focuses on neonatal respiratory physiology, mechanical ventilation of the neonate and changes induced by anesthesia and surgery. Optimal ventilation techniques for preterm and term neonates are discussed. In summary, neonates are at high risk for respiratory complications during anesthesia, which can be explained by their characteristic respiratory physiology.

Do malignant bone tumors of the foot have a different biological behavior than sarcomas at other skeletal sites?

We analyze the delay in diagnosis and tumor size of malignant bone tumors of the foot in a retrospective study. We compared the oncological and surgical long-term results with identical tumor at other anatomical sites in order to analyze the biological behavior of sarcomas that are found in the foot. Thirty-two patients with a histologically proven malignant bone tumor (fifteen chondrosarcomas, nine osteosarcomas, and eight Ewing sarcomas) between the years 1969 and 2008 were included.

The role of the thymus in allogeneic hematopoietic stem cell transplantation.

Allogeneic haematopoietic stem cell transplantation (HSCT) is used to treat an increasing number of congenital and acquired disorders of the haematopoietic system. Even though cytoreductive conditioning regimens vary in intensity, all clinically used protocols invariably cause side effects that compromise transiently or long-term the response of the natural and the adaptive immune systems. However, in the context of the reconstruction of immunity, the generation of naïve T cells constitutes a slow process, and requires a functionally competent thymus.