Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.

Ovarian carcinosarcomas (OCS), also known as malignant mixed mesodermal/Müllerian tumors, are rare neoplasms (1%-4% of all malignant ovarian tumors) composed of high-grade malignant epithelial and mesenchymal elements. OCS occurs in older women. It is associated with a poor outcome and is usually not involved in inherited cancer syndromes. We present 2 cases of OCS; one arising in a patient with a pathogenetic BRCA1 mutation and the other in a woman affected by Lynch Syndrome (LS) carrying a MSH6 germline mutation. To the best of our knowledge, this is the first time that this second type of case has been reported. In this study, we investigated somatic impairment of the wild-type BRCA1 and MSH6 alleles in the OCS of these 2 patients. We also explored in both OCS, the occurrence of TP53 loss of function, which is a genetic alteration known to occur in BRCA-linked ovarian tumorigenesis but not in LS tumors. Moreover, we also provide further data about the histogenesis of OCS.

Whorled Urothelial Cell Carcinoma: A Neglected Variant.

Twelve cases of urothelial cell papillary carcinoma with a whorled pattern of growth are described. This variant is reported with clinicopathological correlations and immunohistochemical findings. All cases showed this peculiar and distinctive curlicue histological pattern, ranging from 50% to 100% of the neoplastic population. Despite the disordered/turbulent growth pattern, the cytological grade was uniformly low. All the lesions were Ta staged and no patient experienced progression after transurethral resection, while 2 showed clinical recurrences. The immunophenotype (low p53, high p27, low Ki67, and high GATA3) of the cases contributes to define this rare variant as a low-grade tumor.

Two copies of isochromosome 5p in refractory cytopenia with multilineage dysplasia: A case report.

Isochromosome 5p-i(5)(p10)-represents a rare but recurrent abnormality in myeloid disorders, especially in acute myeloid leukemia. In all published cases, the isochromosome 5p was present in single copy and accompanied by one or more additional anomalies, mostly trisomy 8. Here we report a case of refractory cytopenia with multilineage dysplasia with two copies of isochromosome 5p, a single normal chromosome 5and an apparently balanced translocation between long arms of chromosome 7and 10. To our knowledge, the pentasomia 5p has never been described before the presentstudy.

Coarse vs. fine needle aspiration biopsy for the assessment of diffuse liver disease from hepatitis C virus-related chronic hepatitis.

BACKGROUND/AIMS: Liver biopsy is crucial in defining natural history and therapeutic choices in chronic hepatitis C and it is usually performed with coarse (>1 mm) needles (CN). As fine needles (FN) do not require anaesthesia, are used over a wider range of coagulation values and allow multiple passes, we compared the diagnostic yield of FN vs. CN biopsies. METHODS: Paired samples obtained with FN (0.8 mm) and CN (1.2 mm) on 149 consecutive outpatients from a tertiary care institution were evaluated prospectively. Histologic variables were quantitatively scored. Sensitivity, specificity, positive predictive value, negative predictive value and positive likelihood ratio were calculated as measures of diagnostic ability assuming CN as reference. RESULTS: FN biopsy was adequate in 83 cases, CN in 140 cases (P<0.001). Considering the 83 paired adequate specimens, the best sensitivity of FN vs. CN was for portal inflammation (0.95%) and the worst for cirrhosis (0.33%). Overall discriminant ability of FN was unsatisfactory and histologic variables were systematically underscored. Tolerability was good for both procedures. CONCLUSIONS: The advantages of FN biopsy are lost on its inferior diagnostic performance. Its use in diffuse liver diseases should be restricted to early non-fibrotic lesions.