Impact of clinical and histopathological characteristics on the disease-free survival of stage I-II acral melanoma patients.

BACKGROUND: Acral melanoma is rare and associated with a worse prognosis compared to cutaneous melanoma in other locations. Despite this, few studies have focused on the prognosis of acral melanoma, particularly in patients with initial clinical stage. The aim of this study was to assess the impact of clinical and histopathological characteristics on the disease-free survival (DFS) of stage I-II patients. METHODS: We analyzed 154 stage I-II acral melanoma cases, all of whom underwent a review of the histopathological and clinical parameters. Patients were divided into groups based on the presence or absence of disease recurrence within 5 years. We used Cox proportional regression to analyze independent risk factors and computed DFS curves using the Kaplan-Meier method. RESULTS: Within 5 years, 27.9% of patients experienced disease recurrence, with 90.4% occurring during the first 3 years. Univariate and multivariate analyses did not identify any clinical parameters with a significant influence on DFS. The DFS rate at 5 years was 72.7%. The median duration of disease recurrence after the initial diagnosis was 21 months. However, Breslow thickness, presence of ulceration, >3 mitosis/mm2 , presence of tumor-infiltrating lymphocytes (TIL), and perineural invasion were significantly associated with a decrease in time to first recurrence. CONCLUSIONS: Despite the favorable prognosis of stage I-II acral melanoma compared with advance stage, clinical and histopathological characteristics can impact prognosis. In addition to Breslow thickness and ulceration, attention should be paid to mitotic rate, presence of TIL, and perineural invasion to optimize follow-up of acral melanoma patients diagnosed in the initial clinical stage.

Gene expression profile of human Down syndrome leukocytes.

AIM: Identification of differences in the gene expression patterns of Down syndrome and normal leukocytes. METHODS: We constructed the first Down syndrome leukocyte serial analysis of gene expression (SAGE) library from a 28 year-old patient. This library was analyzed and compared with a normal leukocyte SAGE library using the eSAGE software. Reverse transcriptase polymerase chain reaction (RT-PCR) was used to validate the results. RESULTS: We found that a large number of unidentified transcripts were overexpressed in Down syndrome leukocytes and some transcripts coding for growth factors (e.g. interleukin 8, IL-8), ribosomaproteins (e.g. L13a, L29, and L37), and transcription factors (e.g., Jun B, Jun D, and C/EBP beta) were underexpressed. The SAGE data were successfully validated for the genes IL-8, CXCR4, BCL2A1, L13a, L29, L37, and GTF3A using RT-PCR. CONCLUSION: Our analysis identified significant changes in the expression pattern of Down syndrome leukocytes compared with normal ones, including key regulators of growth and proliferation, ribosomal proteins, and a large number of overexpressed transcripts that were not matched in UniGene clusters and that may represent novel genes related to Down syndrome. This study offers a new insight into transcriptional changes in Down syndrome leukocytes and indicates candidate genes for further investigations into the molecular mechanism of Down syndrome pathology.