Journal of Genetic Medicine : eISSN 2383-8442 / pISSN 1226-1769

Fig. 2.

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Fig. 2. Biologic progression from plexiform neurofibroma (PN) to malignant peripheral nerve sheath tumor (MPNST). MPNSTs develop through a series of mutations. Initially, mutations in both copies of the NF1 gene in Schwann cells lead to the formation of a PN. Loss of the CDKN2A/B tumor suppressor gene causes this to progress to an atypical neurofibromatous neoplasm (ANNUBP). Further mutations in TP53, EGFR, SUZ12, and EED transform it into a malignant peripheral nerve sheath tumor. LOH, loss of heterozygosity.
Journal of Genetic Medicine 2024;21:51-60 https://doi.org/10.5734/JGM.2024.21.2.51
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