Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

    April 2015 in “ American journal of medical genetics. Part A ”
    Bianca Russell, Jennifer Johnston, Leslie G. Biesecker, Nancy Kramer, Angela Pickart, William Rhead, Wen Tan, Catherine A. Brownstein, L. Kate Clarkson, Amy Dobson, Avi Z. Rosenberg, Samantha A. Schrier Vergano, Benjamin M. Helm, Rachel Harrison, John M. Graham
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    TLDR Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
    The document discussed the clinical management of patients with Bohring-Opitz syndrome (BOS) and ASXL1 mutations, emphasizing the need for Wilms tumor surveillance. It described eight patients with BOS, noting that two developed bilateral Wilms tumors, suggesting a potential link between ASXL1 mutations and tumor development. The study highlighted the importance of regular renal ultrasounds for early detection of tumors and proposed management strategies for common complications such as feeding difficulties, respiratory infections, and sleep disturbances. The findings underscored the necessity of vigilant monitoring and comprehensive care to improve patient outcomes.
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