Abstract
Introduction
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome
caused by pathogenic variants in NF1, which negatively regulates the RAS pathway. Knowledge of the genotype-phenotype
correlation in this disease is an important tool for prognostic evaluation and early
detection of malignant peripheral nerve sheath tumors (MPNST), present in approximately
10% of these patients. We present the case of a teenager with a left jaw MPNST and
a previously unreported germline pathogenic variant on NF1.
Case Presentation
An 11-year-old female with a NF1 clinical diagnosis was referred to our hospital with
a MPNST in an advanced state. A previously unreported NF1 pathogenic variant was obtained (GRCh37: NM_182493.2 c.3299C>G, p.Ser1100*). Despite
great efforts from the surgical and medical teams, the tumor progression couldn't
be halted, resulting in the patient's death.
Discussion
As MPNSTs are refractory to current treatment regimens, early diagnosis, and development
of new therapies, such as MEK inhibitors, is necessary for reducing morbidity and
mortality within NF1 patients. This increases the importance of a more widespread
genetic testing strategy.
Conclusion
The report of a novel NF1 pathogenic variant in a patient with maternally inherited
neurofibromatosis type 1 and a MPNST increases the knowledge of the genotype-phenotype
correlation in the disease.
Keywords
Abbreviations:
NF1 (Neurofibromatosis Type 1), MPNST (Malignant Peripheral Nerve Sheath Tumors), NIH (National Institutes of Health), SARS-CoV2 (Severe Acute Respiratory Syndrome due to Coronavirus Type 2), CT (Computed Tomography), MEK (MAP kinase)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: April 15, 2023
Accepted:
April 14,
2023
Received in revised form:
April 3,
2023
Received:
December 5,
2022
Footnotes
Sources of Support: Invitae Corporation 1400 16th Street, San Francisco, CA 94,103 (acknowledgment for sponsored molecular testing)
No other funding sources to declare.
Identification
Copyright
© 2023 Elsevier Inc. All rights reserved.
