Metatropic dysplasia is a clinical heterogeneous skeletal dysplasia characterized by short extremities, a short trunk with progressive kyphoscoliosis, and craniofacial abnormalities that include a prominent forehead, midface hypoplasia, and a squared-off jaw. Dominant mutations in the gene encoding TRPV4, a calcium permeable ion channel, were identified all 10 of a series of metatropic dysplasia cases, ranging in severity from mild to perinatal lethal. These data demonstrate that the lethal form of the disorder is dominantly inherited and suggest locus homogeneity in the disease. Electrophysiological studies demonstrated that the mutations activate the channel, indicating that the mechanism of disease may result from increased calcium in chondrocytes. Histological studies in two cases of lethal metatropic dysplasia revealed markedly disrupted endochondral ossification, with reduced numbers of hypertrophic chondrocytes and presence of islands of cartilage within the zone of primary mineralization. These data suggest that altered chondrocyte differentiation in the growth plate leads to the clinical findings in metatropic dysplasia.

Dedifferentiated Acinic Cell Carcinoma (DAcCC) is a rare salivary gland malignancy. It has a high tendency to recur and metastasize and thus has a poor prognosis. So far, to our knowledge, only one case of DAcCC has been reported in the cytology literature. Herein, we describe a second case of DAcCC from a fine-needle aspiration (FNA) along with its subsequent histological correlation.

We show that TAP/Sec14L2 had a high expression in normal/benign breast, prostate, and liver tissues as compared to lung, colon, and kidney. Its expression was downregulated in breast cancer cell lines shown by quantitative-PCR. Further, 57% of 141 human invasive breast carcinomas had no or markedly reduced TAP/Sec14L2 expression by immunohistochemical staining, and the rate increased to 80% in high grade invasive carcinomas (p < .01). This downregulation of TAP/Sec14L2 was also present in ductal carcinoma in situ (DCIS) associated with invasive carcinomas. These findings raise the possibility that TAP/Sec14L2 may serve as a tumor suppressor in breast carcinogenesis.