Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore

Clinical characteristics and genetic testing outcome of suspected hereditary peripheral nerve sheath tumours in a tertiary cancer institution in Singapore

Abstract Background Peripheral Nerve Sheath Tumors (PNST) are a diverse group of mostly benign tumours uncommon in the general population. About 5–10% of PNSTs are hereditary, predominantly arising from germline variants in NF1, NF2, SMARCB1, or LZTR1 gene. Methods We reviewed the clinical character...

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Main Authors: Jerold Loh, Pei Yi Ong, Denise Li Meng Goh, Mark E. Puhaindran, Balamurugan A. Vellayappan, Samuel Guan Wei Ow, Gloria Chan, Soo-Chin Lee
Format: Article
Language:English
Published: BMC 2022-06-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Peripheral nerve sheath tumors
Schwannomatosis
Neurofibromatosis
LZTR1 variants
Genetics
Online Access:https://doi.org/10.1186/s13053-022-00230-4

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