886 Genetic and pathological analysis of schwannomatosis and schwannoma to clear the hybrid schwannoma/neurofibroma tumor

نویسندگان

چکیده

In schwannomatosis, LZTR1 and SMARCB1 are known as causative genes. previous reports of some schwannomatosis tumors, hybrid schwannoma/ neurofibroma tumor (hybrid tumor) that have both schwannoma features in a been recognized. general, consists mixture schwann cells, fibroblasts, perineural mast cells. Neurofibroma cells to be CD34 positive. On the other hand, mostly. schwannoma, Antoni B loosely cellular area is sometimes tumor, positive were found parts part was considered neurofibroma, leading diagnosis tumor. However definition has not fully understood. The aim this study define originated from or genetic analysis. First, we analyzed skin patient who novel frameshift mutation c.1844delA gene. highly ordered component which cell mostly, diagnosed schwannoma. reports, single schwannomas, diagnosing them Therefore, 64 cases whether observed not. Although shown several B, observed.

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ژورنال

عنوان ژورنال: Journal of Investigative Dermatology

سال: 2023

ISSN: ['1523-1747', '0022-202X']

DOI: https://doi.org/10.1016/j.jid.2023.03.896