The goal of this observational study (retrospective multicenter cohort study) is to learn if precision medicine approaches-including genetic testing, targeted drugs, and coordinated care from multiple specialists-can improve health outcomes and lower medical costs for people with neurocutaneous syndromes (NCS) in Western China, where healthcare resources are limited. NCS includes four main conditions: neurofibromatosis type 1 (NF1), tuberous sclerosis complex (TSC), Sturge-Weber syndrome (SWS), and von Hippel-Lindau disease (VHL). The main questions it aims to answer are: * Do genetic testing and targeted drugs help people with NCS live longer without disease getting worse? * Do these approaches better control seizures (for TSC and SWS) and shrink tumors (for NF1 and VHL)? * Do they reduce the total cost of medical care? Researchers will compare two groups to see the effects: participants who received precision medicine (genetic testing + targeted drugs + multidisciplinary care) versus those who received standard, uncoordinated care. Participants will: * Undergo genetic testing to identify specific gene changes linked to their NCS * Receive targeted drugs (e.g., mTOR inhibitors for TSC, MEK inhibitors for NF1) if eligible * Attend regular checkups, imaging scans (like MRI), and follow-up visits for an average of 11.4 years * For those in the multidisciplinary care group, receive coordinated care from neurologists, geneticists, surgeons, and other specialists (with remote telemedicine visits for those living far from hospitals)
Study Type
OBSERVATIONAL
Enrollment
1,200
West China Hospital of Sichuan University
Chengdu, Sichuan, China
Progression-free survival (PFS)
Proportion of patients from diagnosis to disease progression, malignant transformation, or death
Time frame: 12 months
Seizure control
Engel class I/II refers to the \*\*Engel Epilepsy Surgery Outcome Scale\*\*, a widely used classification system for assessing seizure control after epilepsy surgery. It categorizes patients into four classes based on postoperative seizure frequency: 1. \*\*Engel Class I\*\*: \*\*Seizure-free\*\* or \*\*auras only\*\* (no disabling seizures). 2. \*\*Engel Class II\*\*: \*\*Rare disabling seizures\*\* (≤3 seizure days per year). Higher Engel class (I \> II \> III \> IV) indicates better seizure control.
Time frame: 12 months
Tumor response
volumetric tumor reduction measured with preoperative tumor volume
Time frame: 12 months
Quality of life: SF-36 Score
SF-36 (Short-Form 36) is a 36-item patient-reported survey that measures generic health-related quality of life across eight domains and two summary components. Each domain is scored 0-100, where 0 = maximum disability and 100 = no disability; therefore, \*\*higher values always indicate better health\*\*. Domain structure and score range 1. \*\*Physical functioning (PF)\*\* - 0-100 2. \*\*Role-physical (RP)\*\* - 0-100 3. \*\*Bodily pain (BP)\*\* - 0-100 (higher = less pain) 4. \*\*General health (GH)\*\* - 0-100 5. \*\*Vitality (VT)\*\* - 0-100 6. \*\*Social functioning (SF)\*\* - 0-100 7. \*\*Role-emotional (RE)\*\* - 0-100 8. \*\*Mental health (MH)\*\* - 0-100
Time frame: 12 months
Overall survival Rate
the overall survivial rate in the whole cohort
Time frame: 12 months
treatment costs
the amount of money(Chinese Yuan, ¥) in volved in the medical costs and transportation costs
Time frame: 12 Months
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