[Tumor-to-tumor metastasis in a renal carcinoma: A rare and surprising event]. / Métastase d'une tumeur primitive dans un carcinome rénal : un évènement rare et surprenant.

Tumor-to-tumor metastasis is a very rare event. We report three cases of tumor metastasizing in a clear cell renal cell carcinoma: two breast carcinomas and a sigmoid carcinoma. So we objectified a prevalence of 1.5% of renal tumors in our series. It's a rare situation but to be considered in daily practice because it changes oncological management offered to the patient. According to the literature, clear cell renal cell carcinoma is the most common tumor recipient of metastasis. Several physiopathological mechanisms can explain this phenomenon, but many of them are still unknown. A better understanding of this phenomenon makes it possible to improve the diagnosis and thus the management of patients with several cancers.

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder involving developmental abnormalities, tissue and organ hyperplasia and an increased risk of embryonal tumours (most commonly Wilms tumour). This multigenic disorder is caused by dysregulation of the expression of imprinted genes in the 11p15 chromosomal region. Molecular diagnosis of BWS is currently difficult, mostly due to the large spectrum of genetic and epigenetic abnormalities. The other difficulty in managing BWS is the identification of patients at risk of tumour. An imprinted antisense transcript within KCNQ1, called KCNQ1OT (also known as LIT1), was recently shown to be normally expressed from the paternal allele. A loss of imprinting of the KCNQ1OT gene, associated with the loss of maternal allele-specific methylation of the differentially methylated region KvDMR1 has been described in BWS patients. The principal aim of this study was to evaluate the usefulness of KvDMR1 methylation analysis of leukocyte DNA for the diagnosis of BWS. The allelic status of the 11p15 region and the methylation status of the KCNQ1OT and H19 genes were investigated in leukocyte DNA from 97 patients referred for BWS and classified into two groups according to clinical data: complete BWS (CBWS) (n=61) and incomplete BWS (IBWS) (n=36). Fifty-eight (60%) patients (39/61 CBWS and 19/36 IBWS) displayed abnormal demethylation of KvDMR1. In 11 of the 56 informative cases, demethylation of KvDMR1 was related to 11p15 uniparental disomy (UPD) (nine CBWS and two IBWS). Thirteen of the 39 patients with normal methylation of KvDMR1 displayed hypermethylation of the H19 gene. These 13 patients included two siblings with 11p15 trisomy. These results show that analysis of the methylation status of KvDMR1 and the H19 gene in leukocyte DNA is useful in the diagnosis of 11p15-related overgrowth syndromes, resulting in the diagnosis of BWS in more than 70% of investigated patients. We also evaluated clinical and molecular features as prognostic factors for tumour and showed that mosaicism for 11p15 UPD and hypermethylation of the H19 gene in blood cells were associated with an increased risk of tumour.

[Spermatic cord torsion in the newborn: role of surgical exploration]. / Torsion du cordon spermatique chez le nouveau-né: que faut-il attendre de l'exploration chirurgicale?

UNLABELLED: Torsion of the spermatic cord is frequent in neonates suffering from acute scrotal distress. A retrospective study was carried out to determine the viability and the outcome of testis treated by surgical exploration. PATIENTS AND RESULTS: Surgical exploration of 30 neonates presenting acute scrotal distress found: 18 torsions of the spermatic cord, six intrascrotal bleedings or hematoma due to delivery trauma, five tunica vaginalis inflammations and one ischemia without torsion. The torsion occurred in utero in 16 cases and after birth in two cases. The contralateral uninvolved testis was fixed to the scrotum in all cases. The torsion was extravaginal in 17 cases and intravaginal in one case. In all cases of prenatal torsion, there was total necrosis of the testis. One case of postnatal torsion operated on four hours after the beginning of the torsion was saved. CONCLUSION: Although the viability of the torsioned testis is compromised in cases of prenatal torsion, surgical exploration is necessary to confirm diagnosis and to avoid any contralateral torsion because bilateral torsion exists. Only emergency surgical exploration can save a testis that has undergone post-natal torsion as reported in others series.

Identification of asialo GM1 as a binding structure for Escherichia coli colonization factor antigens.

We have examined the binding of colonization factor antigens, (CFAs) of enterotoxigenic Escherichia coli to gangliosides and asialo gangliosides by using immuno-thin layer chromatography. CFA/II and its subcomponents (CS1, CS2 and CS3) as well as the subcomponent CS4 of the CFA/IV complex bound to asialo ganglioside GM1.