Recent Advances in the Diagnosis and Pathogenesis of Neurofibromatosis Type 1 (NF1)-associated Peripheral Nervous System Neoplasms.

Advances in Anatomic Pathology
Jody F LongoSteven L Carroll

Abstract

The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients. Further, other genetic diseases affecting the Ras signaling cascade (RASopathies) mimic many of the clinical features of NF1. Here, we review the clinical manifestations of NF1 and compare and contrast them with those of the RASopathies. We also consider current approaches to genetic testing for germline NF1 mutations. We then focus on NF1-associated neurofibromas, considering first the complicated clinical behavior and pathology of these neoplasms and then discussing our current understanding of the genomic abnormalities that drive their pathogenesis, including the mutations encountered in atypical neurofibromas. As several neurofibroma subtypes are capable of und...Continue Reading

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Citations

Aug 7, 2019·Journal of the Endocrine Society·Henrik FalhammarCarl Christofer Juhlin
Aug 17, 2019·Cancers·Sioletic Stefano, Scambia Giovanni
Jul 10, 2020·Neuro-oncology Advances·Alexander PemovDavid T Miller
Apr 22, 2020·The Journal of Clinical Investigation·Marta Palomo-IrigoyenAshwin Woodhoo
Jul 13, 2021·Frontiers in Oncology·Haoying WangYongning Zhou

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Methods Mentioned

BETA
GTPase
exome sequencing
electron microscopy
exome
RNA-Seq
xenograft

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