The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease.

Aim: The aim of this study is to assess the role of Frizzled-4 (FZD4) in familial exudative vitreoretinopathy (FEVR) and Coats disease.

Methods: Tissue samples were collected for DNA extraction and automated DNA sequencing of the two coding exons of FZD4 in both directions. Cases carrying a FZD4 mutation and demonstrating extreme disease severity were selected for direct automated sequencing of all coding exons of LRP5, NDP and TSPAN12.

Primary cutaneous PEComa.

A 48-year-old woman attended a physician because of a solitary cutaneous nodule on the left lower leg. Microscopic examination of the excisional specimen revealed a dermal tumor composed of nests of epithelioid cells exhibiting clear cytoplasm. They had centrally located vesicular nuclei with distinct nucleoli.

Detection of tyrosinase mRNA in the sentinel lymph nodes of melanoma patients is not a predictor of short-term disease recurrence.

Sentinel lymph node evaluation has enabled identification of patients with cutaneous melanoma who might benefit from elective regional lymph node dissection. Sentinel nodes are currently assessed by histologic and reverse transcription polymerase chain reaction (RT-PCR) evaluation for melanocyte-specific markers. The clinical significance of positive findings by RT-PCR in the absence of histologic evidence of metastasis (HIS(NEG)/PCR(POS)) remains unclear.