Neurofibromatosis 1
Conditions
Brief summary
The purpose of this study is to find blood plasma based biomarkers of disease progression in neurofibromatosis type 1 (NF1). NF1 is associated with the development of benign cutaneous tumors as well as a variety of malignancies. Analysis of plasma DNA and chemical composition may provide tools for diagnosis and follow-up of NF1. The hypothesis of the study is that NF1-associated tumor burden and malignant transformation of tumors can be detected in plasma. To test this hypothesis, Finnish patients with NF1 are recruited and blood sample is taken. Blood plasma is separated and analyzed chemically. DNA is then also extracted and quantified.
Detailed description
Neurofibromatosis type 1 (NF1) is a dominant hereditary multiorgan disease that causes both benign cutaneous neurofibromas and malignant tumors. Timely detection of malignant transformation in NF1 tumors is of great clinical importance. Also methods to easily monitor individual's overall tumor burden would be useful. Blood plasma is collected from NF1 patients and age- and gender-matched controls. The samples are stored at -80 C until analysis. Free circulating plasma DNA is extracted and quantified using commercial reagents. Also a previously described chemical detection method to observe overall changes in plasma composition is utilized. The analysis results are compared between NF1 patients and healthy controls, and also correlated with NF1 tumor burden and diagnosis of malignancy during five-year follow-up.
Interventions
OTHERBlood sample
10 mL venous blood sample for analysis of plasma
Sponsors
Juha Peltonen
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 85 Years
Healthy volunteers
Yes
Inclusion criteria
* Finnish-speaking * 18-85 years old * For NF1 group: Diagnosis of type 1 neurofibromatosis and visit to Turku Neurofibromatosis Centre * For control group: Suitable as an age- and gender-matched control for some of the NF1 patients
Exclusion criteria
* Non-Finnish-speaking * For control group: diagnosis of neurofibromatosis type 1 or cancer
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict overall tumor burden | Up to 5 years | Tumor burden assessed by clinician on a four-level scale: 1 = 0-5 neurofibromas, 2 = 6-99 neurofibromas, 3 = 100-500 neurofibromas, 4 = over 500 neurofibromas |
| Ability of free circulating plasma DNA concentration and unspecific chemical detection method to predict clinical diagnosis of malignancy | Up to 5 years | Information on clinical diagnoses is obtained from patient records |
Outcome results
None listed