Digital gene expression analysis might aid in the diagnosis of thyroid cancer.

Background: Thyroid cancer represents approximately 90% of endocrine cancers. Difficulties in diagnosis and low inter-observer agreement are sometimes encountered, especially in the distinction between the follicular variant of papillary thyroid carcinoma (fvptc) and other follicular-patterned lesions, and can present significant challenges. In the present proof-of-concept study, we report a gene-expression assay using NanoString nCounter technology (NanoString Technologies, Seattle, WA, U.S.A.) that might aid in the differential diagnosis of thyroid neoplasms based on gene-expression signatures. Methods: Our cohort included 29 patients with classical papillary thyroid carcinoma (ptc), 13 patients with fvptc, 14 patients with follicular thyroid carcinoma (ftc), 14 patients with follicular adenoma (fa), and 14 patients without any abnormality. We developed a 3-step classifier that shows good correlation with the pathologic diagnosis of various thyroid neoplasms. Step 1 differentiates normal from abnormal thyroid tissue; step 2 differentiates benign from malignant lesions; and step 3 differentiates the common malignant entities ptc, ftc, and fvptc. Results: Using our 3-step classifier approach based on selected genes, we developed an algorithm that attempts to differentiate thyroid lesions with varying levels of sensitivity and specificity. Three genes-namely SDC4, PLCD3, and NECTIN4/PVRL4-were the most informative in distinguishing normal from abnormal tissue with a sensitivity and a specificity of 100%. One gene, SDC4, was important for differentiating benign from malignant lesions with a sensitivity of 89% and a specificity of 92%. Various combinations of genes were required to classify specific thyroid neoplasms. Conclusions: This preliminary proof-of-concept study suggests a role for nCounter technology, a digital gene expression analysis technique, as an adjunct assay for the molecular diagnosis of thyroid neoplasms.

Expression of transmembrane 4 superfamily member, CD9, is related to improved progression-free survival in patients with diffuse non-Hodgkin's lymphoma.

Decreased expression of the transmembrane 4 superfamily member, CD9, is associated with poor prognosis in patients with breast or non-small cell lung cancer. The expression of CD9 in lymphoma was examined in this study. Fifty-one sections with diffuse lymphomas were examined. Thirty-seven had low expression and 14 high expression of CD9. At 5 years the progression-free survival rates were 83.3+/-10.8% and 32.8+/-9.2% (p=0.018), and the actual survival were 83.3+/-10.8% and 56.8+/-8.9% (p=0.256) for those with high and low CD9 expression respectively. Decreased expression of CD9 appears to be a prognostic factor for poor survival in patients with diffuse lymphomas.

Blood lead levels in preschool children in Cape Town.

Blood lead levels were assessed in 293 children aged between 4 and 6 years attending preschool centres in metropolitan Cape Town in order to establish the degree of lead absorption. Anthropometric data, blood count, zinc protoporphyrin and blood lead level were obtained for each child. A questionnaire was used to determine socio-economic status, dietary habits and history of pica. Thirteen children, or 4,4% of those sampled, had blood levels of greater than or equal to 30 micrograms/dl. The majority of these children lived in close proximity to one another in a socially deprived inner urban environment. Environmental sampling for lead was carried out in the homes of children with the highest blood levels as well as in the homes of a matched control group with low levels living in the same area. The only difference was a significantly higher incidence of pica in the children with high levels.

Sinusoidal CD30-positive large B-cell lymphoma: a morphologic mimic of anaplastic large cell lymphoma.

Anaplastic large cell lymphoma (ALCL) has been recognized recently as a distinct clinicopathologic entity, restricted to a subset of CD30-positive diffuse large cell lymphomas of T/null lineage. Some of the characteristic features of ALCL, such as CD30 antigen expression and the presence of large pleomorphic lymphoid cells infiltrating lymph node sinuses, can be found rarely in diffuse large B-cell lymphomas. We collected 11 such cases, and their clinical, morphologic, and immunophenotypic features are reviewed. The age of the patients ranged from 36 to 82 years (mean, 63.2 years) with a male to female ratio of 1:1.2. All neoplasms were nodal with a sinusoidal infiltrative pattern, although four neoplasms also had foci of confluent growth. Eight tumors were composed predominantly of large pleomorphic cells with occasional Reed-Sternberg-like cells. The other three tumors had a higher proportion of large monomorphic lymphoid cells. Necrosis and admixed granulocytes were other common features. Immunophenotypically, all cases were positive for CD30 and CD20 or CD79a. All eight cases examined for anaplastic lymphoma kinase-1 immunoreactivity were negative. In situ hybridization for Epstein-Barr virus RNA was performed in eight cases; two were positive. Excluding one consultation case with no available clinical follow-up data, six patients died of the disease within 3 years and one had disease relapse within 1 year. We conclude that an unusual variant of diffuse large B-cell lymphoma can closely mimic ALCL. However, these neoplasms can be distinguished from ALCL by virtue of their B-lineage and lack of anaplastic lymphoma kinase-1 expression. Evidence of Epstein-Barr virus infection can be found in a small subset of these neoplasms.