BACKGROUND AND PURPOSE:Chronic cerebrospinal venous insufficiency is a postulated etiologic factor for multiple sclerosis, but the higher frequency with longer disease duration and progressive disability suggests that chronic cerebrospinal venous insufficiency is secondary to chronic disease. We evaluated the presence of chronic cerebrospinal venous insufficiency in pediatric-onset MS.
Embryonal rhabdomyosarcoma (ERMS), a malignant soft tissue sarcoma, is one of the most common paediatric cancers. Certain ERMS tumours are associated with the DICER1 syndrome, a distinctive tumour predisposition syndrome caused by germ-line mutations in the microRNA-maturation pathway gene, DICER1. In addition to germ-line DICER1 mutations, highly characteristic somatic mutations have been identified in several DICER1-associated tumour types. These so-called “hotspot” mutations affect highly conserved amino acid residues central to the catalytic activity of the DICER1 ribonuclease IIIb domain.
Primary ovarian ERMS (oERMS) is extremely rare. We present a case of a 6-year-old girl with an oERMS found to harbour two mutations in DICER1. In addition to the oERMS, the girl also exhibited other DICER1 phenotypes, including cystic nephroma (CN) and multinodular goitre. Somatic investigations of the CN revealed the presence of a hotspot DICER1 mutation different from that in the oERMS. Of particular interest is the CN presented at the age of 12 years, which is much older than previously reported age range of susceptibility (birth to four years of age).
This report documents both germ-line and highly characteristic somatic DICER1 mutations in a case of oERMS, adding to the expanding spectrum of rare childhood tumours in the DICER1 syndrome.
Osteosarcoma is the most common pediatric malignant bone tumor. Concomitant osteoporosis has typically been attributed to oncologic therapy. The present case series is aimed to describe 3 patients who presented with osteoporosis or osteopenia before, or early in, their oncology treatment. In our patients, bone health and its complications had significant impacts including pain, reduced mobility, prolonged admission, and delays in recovery. Our patients experienced improvement with resection of their primary tumor and with bisphosphonate infusion. Future studies are required to determine the prevalence osteoporosis at presentation of osteosarcoma and the role of bisphosphonates.
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