Chromosomal breakpoints characterization of two supernumerary ring chromosomes 20.

The occurrence of an additional ring chromosome 20 is a rare chromosome abnormality, and no common phenotype has been yet described. We report on two new patients presenting with a supernumerary ring chromosome 20 both prenatally diagnosed. The first presented with intrauterine growth retardation and some craniofacial dysmorphism, and the second case had a normal phenotype except for obesity. Conventional cytogenetic studies showed for each patient a small supernumerary marker chromosome (SMC). Using fluorescence in situ hybridization, these SMCs corresponded to ring chromosomes 20 including a part of short and long arms of chromosome 20. Detailed molecular cytogenetic characterization showed different breakpoints (20p11.23 and 20q11.23 for Patient 1 and 20p11.21 and 20q11.21 for Patient 2) and sizes of the two ring chromosomes 20 (13.6 Mb for case 1 and 4.8 Mb for case 2). Review of the 13 case reports of an extra r(20) ascertained postnatally (8 cases) and prenatally (5 cases) showed varying degrees of phenotypic abnormalities. We document a detailed molecular cytogenetic chromosomal breakpoints characterization of two cases of supernumerary ring chromosomes 20. These results emphasize the need to characterize precisely chromosomal breakpoints of supernumerary ring chromosomes 20 in order to establish genotype-phenotype correlation. This report may be helpful for prediction of natural history and outcome, particularly in prenatal diagnosis.

[Giant colonic or ileo-jejunal diverticulum and infra-mesocolic abdomial pseudocysts: diagnosis, pathalogical and clinical analysis]. / Diverticules géants du grêle et du côlon et formations pseudo kystiques sous-mésocoliques.

Giant diverticula of the small intestine and colon are rare. Four cases treated at our institution in the last year are reported and compared to published cases; specific features and those which differentiate them from abdominal pseudocysts are described. They most commonly present a clinical tableau similar to commonplace diverticular disease. Awareness of this unusual condition and a good CT study are the keys to diagnosis. Giant diverticula may be acquired or congenital. The acquired type is simply a more spectacular version of commonplace diverticulosis while the congenital type, having a muscular wall and myenteric plexus, is more akin to intestinal duplications. Treatment is surgical and, in the case of sigmoid giant diverticula, usually requires a colon resection similar to that required for sigmoid diverticulitis.

[Necrotic eosinophilic angiitis with ileal perforation and peritonitis secondary to abdominal angiostrongyliasis]. / Angéite nécrosante à éosinophiles avec perforation iléale et péritonite secondaire à une angiostrongylose abdominale.

INTRODUCTION: Abdominal angiostrongyliasis caused by the filiform nematode Angiostrongylus costaricensis, is an endemic disease in Central and South America. A case of necrotic eosinophilic angeitis with ileum perforation and peritonitis due to abdominal angiostrongyliasis is reported. OBSERVATION: A 32 year-old man, living in a Paris suburb, underwent segmentary resection of the ileum with end to end anastomosis for perforation with generalized peritonitis. The anatomopathological examination revealed eosinophilic necrotic lesions with thrombosis on the borders of the ileum perforation. The discovery of a section of A. costaricensis in the lumen of a nearby muscular artery initiated an epidemiological survey, revealing that the patient had visited French Guyana 2 months earlier. DISCUSSION: Angiostrongylus costaricensis is a nematode parisiting certain forest rodents that become its permanent host. The intermediate hosts are earth molluscs or slugs of the same family. Humans are accidentally infected following ingestion of vegetables infested with L3 larvae or slugs carrying the disease. The clinical symptomatology is unspecific: prolonged fever, anorexia, and right iliac fossa pain with eosinophilia of the blood. Often benign, the progression of abdominal angiostrongylosis is punctuated by complications: occlusive syndrome, generalised peritonitis due to intestinal perforation and mass syndrome. Hemorrhage, infarct, pseudo-tumoural fibrosis and ulcers represent the surgical or macroscopic rearrangements. In the tissue, 4 lesions characterize abdominal angiostrongylosis: eosinophilic necrotic angeitis, foreign body granulomas, eosinophilia in the digestive wall, and the presence of A. costaricensis in the lumen of the vessels. There is presently no medical treatment and surgery is the only therapeutic option.

Primary squamous cell carcinoma of the endometrium: case history, pathologic findings, and discussion.

Primary squamous cell carcinoma of the endometrium (PSCCE) is an exceedingly rare tumor. Rarely are cytological criteria discussed. We report our experience in the cytological diagnosis of a case. A postmenopausal, 64-yr-old woman suffered from pyometria. An endometrial Pap smear displayed some malignant squamous cells. Curettage of the cervix and the uterine cavity only recovered some fragments of atypical squamous epithelium whose origin could not be precisely identified. A hysterectomy with bilateral adnexectomy was decided upon. Pathological study evidenced a primary squamous cell carcinoma in the uterine cavity while the cervix was tumor-free and the lymph nodes were devoid of metastases (pT1, pN0, pM0). The patient died 46 mo PO with multiple pulmonary and renal metastases. The histological feature of PSCCE is identical to that of any tumor of a similar nature, whatever the site, especially the cervix. Confirmation of the primary endometrial nature is only possible on the hysterectomy specimen.