Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi.

We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevelopmental outcome.

[Cervical disease in postmenopausal HIV-1-infected women]. / Dysplasies cervicales chez les patientes ménopausées infectées par le VIH.

INTRODUCTION: An increasing number of HIV-1-infected women reaches the age of menopause. This infection is associated with a higher incidence of cervical squamous intraepithelial lesions (low-grade or LSIL, high grade or HSIL). The aim of our study was to describe the cervical disease in these patients during menopause. PATIENTS AND METHODS: Retrospective study, identifying all Pap smears and colposcopy in HIV-1-infected postmenopausal women between 1995 and 2008, in our hospital. RESULTS: Eighteen postmenopausal women, aged of 54 years (43-63), have HIV-1 infection since 7.5 years (2-25). Fifty-one pathological exams were reviewed in which 27 (50.98%) abnormal, including four (7.84%) ASC-US, 15 (29.41%) LSIL lesions, and seven (13.73%) HSIL. Ten patients had surgery (laser, conisation, hysterectomy) during the period. The evolution of cervical lesions was: stability in 40.48%, regression in 35.71% and progression in 23.81%. The median time to develop an HSIL at menopause was 5 years. CONCLUSION: In our study, postmenopausal HIV-1-infected women have most frequently LSIL and persistent. Monitoring of these postmenopausal women should be continued, the attitude to realise an initial HPV typing and confirmation of an abnormal annually Pap smear with colposcopic exam should be confirmed by larger study.

Intrapericardial teratoma with hydrops leading to in utero demise.

We report a case of intrapericardial teratoma following in utero demise at 29 weeks with nonimmune hydrops. The diagnosis was strongly suggested by ultrasound findings and confirmed by fetopathology. The mechanism whereby intrapericardial teratomas may lead to hydrops and death is massive pericardial effusion responsible for compressive tamponade. When prenatal diagnosis is performed before this stage, in utero interventions can obtain decompression, and the birth can be planned with rapid and appropriate management of the neonate.

Papillary thyroid carcinoma: 6 cases from 2 families with associated lymphocytic thyroiditis harbouring RET/PTC rearrangements.

Familial papillary thyroid carcinoma (PTC) is a well recognized disease. However, genetic predisposition to familial PTC is rare and the molecular alterations at the origin of the pathology are unknown. The association between PTC and lymphocytic thyroiditis (LT) has been reported recently. We communicate here 6 cases of PTC associated with LT in 2 unrelated families. PTC was diagnosed on classical nuclear and architectural criteria. It was bilateral in 5 cases. Architecture was equally distributed between typical PTC and its follicular variant. LT was present in variable degrees, including in 4 cases, oncocytic metaplasia. Using the RT-PCR technique, we observed a RET/PTC rearrangement in the carcinomatous areas of patients of both families: PTC1 in family 1 and PTC3 in family 2 and a RET/PTC rearrangement in non-malignant thyroid tissue with LT in family 2. The RET/PTC band was weaker or absent in pure LT areas. Furthermore, using a polyclonal ret antibody, an apical or a diffuse cytoplasmic ret onc protein immunolabelling was observed in the three patients with RET/PTC1 rearrangement and in the three patients with RET/PTC3 rearrangement. In conclusion our data: (1) show the presence of a RET/PTC 1 or 3 rearrangement (depending on the family) together with a variable expression of ret protein in all the PTCs; (2) suggest that the molecular event at the origin of the PTCs seems to be particular to each one of the studied families; and (3) confirm that the ret proto-oncogene activating rearrangement(s) is an early event in the thyroid tumorigenic process and that it can be observed in association with LT.