Patients with neurofibromatosis require systematic care

Prof. Jan Styczynski, national consultant in pediatric oncology and hematology:

• Patients with neurofibromatosis require systematic care.
• Pediatric oncology and hematology are mainly rare diseases.
• Each patient may be the one, special one, and we want to provide them with treatment to the highest standards.
• In pediatric oncology, we have been treating patients according to the principles set forth in international programs and protocols for years.
• Patients treated in Poland receive the same treatment as patients in Germany, France, Italy, Switzerland or Austria.
• The group of diseases to which neurofibromatosis (neurofibromatosis) belongs was for many years considered predisposing to cancer. However, according to current standards of knowledge, they are classified as primary neoplastic diseases.
• Therefore, any patient with suspected neurofibromatosis is at risk of developing a malignant tumor, and benign tumors are inherent in the nature of this disease (multiple nodules can significantly reduce quality of life).
• The criteria for diagnosing fibromatosis are strictly defined. The presence of two of seven key symptoms is sufficient: "coffee with milk" type spots, freckled spotting of the armpits or groin, neurofibromas of any type, glioma of the optic pathway, Lisch nodules on the iris, certain bone lesions (wedge dysplasia, pseudarthrosis, curvature of the lower leg bones), and fibromatosis in the family.
• Patients with neurofibromatoses are in dire need of help - multidirectional, multifaceted help. They are waiting for the kind of treatment that will alleviate pain, cosmetic defects, and problems with normal functioning.
• A few years ago, a new drug appeared for this group of patients - selumetinib. As it turned out, it effectively inhibits the formation of neurofibromas. It gives improvement in about 50 percent of patients. This is a very high percentage.
• The Ministry of Health has recognized selumetinib as one of the 10 innovative drugs in recent years.
• We have high hopes for the pilot program of coordinated care for patients with neurofibromatosis.
• The essence of this program is systematic outpatient care and regular monitoring of patients with neurofibromatosis.
• Unfortunately, only 4 centers have signed up for the program (two in Warsaw, one each in Bydgoszcz and Gdansk). These are pediatric centers. We would like and are working to include adult centers in the program.