Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report.
Cancer Genet
; 274-275: 72-74, 2023 06.
Article
in English
| MEDLINE | ID: covidwho-2317387
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
Full text:
Available
Collection:
International databases
Database:
MEDLINE
Main subject:
Neurofibromatosis 1
/
Neurofibrosarcoma
/
Nerve Sheath Neoplasms
Type of study:
Case report
/
Diagnostic study
/
Experimental Studies
/
Prognostic study
Topics:
Variants
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Cancer Genet
Year:
2023
Document Type:
Article
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