Medical genetics

No abstract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/38266/1/28_ftp.pd

Management of hepatic epithelioid haemangio-endothelioma in children: what option?

Hepatic epithelioid haemangio-endothelioma (HEHE) is an endothelium-derived tumour of low-to-medium grade malignancy. It is predominantly seen in adults and is unresponsive to chemotherapy. Liver transplantation is an accepted indication when the tumour is unresectable. Hepatic epithelioid haemangio-endothelioma is very rare in children and results after transplantation are not reported. The aim of this study is to review the experience of three European centres in the management of HEHE in children. A retrospective review of all paediatric patients with HEHE managed in three European centres is presented. Five children were identified. Four had unresectable tumours. The first had successful resection followed by chemotherapy and is alive, without disease 3 years after diagnosis. One child died of sepsis and one of tumour recurrence in the graft and lungs 2 and 5 months, respectively, after transplant. Two children who had progressive disease with ifosfamide-based chemotherapy have had a reduction in clinical symptoms and stabilisation of disease up to 18 and 24 months after the use of platinum-based chemotherapy. HEHE seems more aggressive in children than reported in adults and the curative role of transplantation must be questioned. Ifosfamide-based chemotherapy was not effective. Further studies are necessary to confirm if HEHE progression in children may be influenced by platinum-based chemotherapy

HPL-positive infiltrating trophoblastic cells in normal and abnormal pregnancy

In a series of 24 pregnant women, placental bed biopsies were performed in the third trimester at cesarean section. All the resulting specimens contained infiltrating trophoblast with both small and giant cells, and eight also contained vascular trophoblast. On immunoperoxidase staining for HPL, some small interstitial trophoblastic cells were positive in 12 cases. Some cells of the vascular intramural trophoblast and practically all cells of the vascular intraluminal trophoblast were positive. Seven cases were normal pregnancies whereas 17 were complicated by arterial hypertension and/or fetal growth retardation. A significant correlation between abnormal pregnancy and absence of HPL-positive interstitial cells in the placental bed biopsy was found. This probably indicates a diminished overall number of HPL-positive interstitial cells in the group of abnormal pregnancies and might reflect some defect of interstitial trophoblast. Such a defect may play a role in the arrest of the physiological changes of pregnancy in spiral arteries, which has been described in pre-eclampsia and in many cases of idiopathic fetal growth retardatio

Syndrome d'ataxie-télangiectasie

Syndrome d'ataxie-télangiectasi