PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome

    January 2018 in “ Anticancer Research
    Giovanni Ponti, Marco Manfredini, Lorenza Pastorino, Monia Maccaferri, Aldo Tomasi, Giovanni Pellacani
    TLDR NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
    The study suggested that Nevoid Basal Cell Carcinoma Syndrome (NBCCS) and Basaloid Follicular Hamartoma Syndrome (BFHS) might be the same genetic entity rather than two distinct syndromes. It proposed that including Basaloid Follicular Hamartoma (BFH) in the NBCCS cutaneous tumor spectrum could aid in identifying misdiagnosed NBCCS cases. This inclusion could be beneficial for implementing tailored surveillance strategies for affected individuals.
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