| Background and Objectives Neurofibromatosis type 1(NF1)is a hereditary tumor susceptibility syndrome with various clinical manifestations,including neurofibromatosis,pigment abnormalities,lisch nodules,skeletal malformations,nervous system tumors,vascular abnormalities and neurocognitive defects.At present,with the rapid development of genetic engineering,genetics and molecular biology,new progress has been made in the research on the mechanism of NF1 development,but the retrospective analysis of the clinical data of the disease is rare.In order to further increase the clinician's understanding of NF1,this study comprehensively analyzes the clinical manifestations,imaging findings,surgical treatment and clinical pathology of patients with NF1 in our department,our results have significance for clinicians in the diagnosis and treatment of the disease and improve the therapeutic effect.Methods The clinical data of 52 patients with NF1 admitted and treated by plastic surgery in the First Affiliated Hospital of Zhengzhou University from January 2012 to December 2018 were collected.All patients were confirmed by pathology.The clinical data of gender,age,first-generation blood relatives with or without NF1,the classification of neurofibroma,the distribution area,the length and diameter of the tumor,the imaging manifestations of the tumor,the depth of invasion,the operative methods and pathological results were analyzed retrospectively.SPSS21.0 statistical software was used to analyze the collected data,with P < 0.05 as the significant difference.Results 1.Epidemiology Among the 52 patients with NF1,20 were males,accounting for 38.5%(20/52)and 32 females,accounting for 61.5%(32/52).The age of NF1 patients ranged from 3 years old to 61 years old,with an average age of 23.2 years.The age group was divided into young groups(under 29 years old),accounting for 76.9%(40/52),and young and middle-aged groups(30~39 years old,accounting for 5.8%(3/52),middle-aged group(40~49 years old),accounting for 9.6%(5/52),middle-aged group(over 50 years old),accounting for 7.7%(4 /52).Among the first-generation blood relatives(parents,siblings,and children),15 patients had NF1,accounting for 28.8%(15/52),and 37 patients without NF1,accounting for 71.2%(37/52).Nine patients reported a rapid increase in adolescent tumors in a short period of time,including 2 male patients and 7 female patients;4 of the female patients rapidly increased after pregnancy.There were 5 patients with scoliosis and 3 patients with central nervous system tumors.No malignant peripheral nerve sheath tumors were found in the included patients.2.Clinical Manifestations Coffee milk spots are an important feature of NF1.45 patients had coffee milk spots,accounting for 86.5%(45/52),of which 30 cases were multiple,accounting for 57.7%(30/52).According to the difference in the location of the tumor,the study classified neurofibroma into three clinical types: skin type,subcutaneous type and plexus type,of which 18 cases were skin type patients,accounting for 34.6%(18/52),17 cases were subcutaneous type and 17 cases were plexus type,accounting for 32.7%(17/52),respectively.According to clinical data,neurofibromas were divided into head,face,neck,limbs,trunk and buttock,perineum.Six patients had multiple neurofibromas all over the body.Among the 52 patients,there were 84 areas in which the tumor was distributed,of which 35.7%(30/84)were distributed in the head,face and neck,26.2%(22/84)in the limbs,and the proportion in the trunk.23.8%(20/84),14.3%(12/84)of the buttocks and perineum.The long diameter of the tumor was measured by direct measurement,color Doppler ultrasound and MRI examination.The long diameter range of the tumor was 0.5~70cm,and the average tumor length was 15.7cm.16 cases with long tumor diameter ?5cm,accounting for 30.8.%(16/52),36 cases of >5cm,accounting for 69.2%(36/52).According to color Doppler ultrasound,CT,MRI and intraoperative macroscopic observation,the depth of tumor infiltration was divided into superficial dermis and deep tissue.There were 49 lesions infiltrating into superficial dermis,accounting for 58.3%(49/584)and 35 lesions infiltrating into deep tissue,accounting for 41.7%(35/84).3.Imaging Findings of Neurofibroma 12 patients underwent Doppler ultrasonography,accounting for 23.1%(12/52),and were classified into nodular,plexus and diffuse according to ultrasound imaging.7 patients showed nodular type,accounting for 58.3%(7/12),3 patients showed plexus type 25%(3/12),and 2 patients showed diffuse type 16.7%(2/12).Ultrasound can detect the mass in the soft tissue and present it in real time in the form of an image.It can observe the internal structure of the tumor and the surrounding tissue,and provide effective imaging data for the clinician to diagnose the disease.MRI was performed in 24 patients,accounting for 46.2%(24/52).The expression of neurofibroma in MRI was the involvement of skin and soft tissue.The influence of differentiating neurofibroma on MRI was also different.In the subcutaneous soft tissues and muscular spaces,long T1 long T2 hyperlipidemia signals with different shapes,such as strips,grids and strips,can be seen.In some cases,signals of short T1 long T2,long T1 long T2 and long T1 short T2 can be seen.MRI can determine the depth of invasion of tumors and the relationship between tumors and surrounding tissues and bones.4.Surgical Treatment We used three surgical methods commonly used in plastic surgery,namely,direct suturing after surgical resection,local flap transfer and free skin grafting.Among them,17 patients were treated with direct suture,accounting for 32.7.%(17/52),32 patients with partial flap transfer,accounting for 61.5(32/52),3 patients with free skin graft,accounting for 5.8%(3/52).The degree of resection was divided into complete resection and palliative resection.There were 20 cases with complete resection,accounting for 38.5%(20/52),and 32 cases with palliative resection,accounting for 61.5%(32/52).The number of operations in all NF1 patients was counted.The number of operations was from 1 to 7 times,and the average number of operations was 1.7 times.5.Clinical Pathology All 52 patients with NF1 were diagnosed by pathology in our hospital.The pathological signs were as follows: neurofibromatosis,plexiform neurofibroma,pigmented neurofibromatosis and invasive neurofibromatosis.Its histological appearance is mainly composed of spindle cells,the main components are glial and Schwann cells.47 patients underwent immunohistochemical examination,46 patients with S-100 positive,accounting for 97.9%(46/47),16 patients with SOX-10 positive,accounting for 21.3%(10/47),15 cases Patients were positive for CD34,accounting for 31.9%(15/47),11 patients were positive for Nestin,accounting for 23.4%(11/47),and 6 patients were positive for Vimentin,accounting for 12.8%(6/47).6.Follow-up and Prognosis After 52 cases of NF1 patients underwent surgical treatment,49 cases healed in the first stage,1 case of necrotic infection in the skin graft area,and healed well after the second operation;2 cases had necrosis of the flap,debridement treatments and vacuum negative pressure drainage were given for many times,and the healing was good.Through the statistical test of the degree of resection of tumors on the regeneration of tumors after operation,P < 0.05,it shows that the different degree of resection of tumors has statistical significance on the regeneration of tumors after operation;Statistical analysis of the regeneration of tumors after different surgical methods,P > 0.05,shows that the influence of different surgical methods on the regeneration of tumors after operation is not statistically significant;regardless of which method is used.There is no correlation between the regeneration of the tumors and the degree of resection of the tumors.Statistical test of patients' satisfaction after different surgical methods was carried out,P < 0.05,which showed that there was significant difference in patients' satisfaction after different surgical treatments.Conclusions 1.There are more female patients than male patients in NF1 patients,and the age of consultation is mostly concentrated in the youth group(under 29 years old).However,for atypical clinical manifestations,unclear medical history and family history,imaging examination,skin biopsy and gene detection are needed to make a definite diagnosis.2.NF1 ultrasound images and MRI images have certain characteristics,and the recognition and recognition of these image features provide imaging assistance for clinical diagnosis of NF1.3.Neurofibroma is mainly composed of spindle cell tumors,the main components are glial and Schwann cells.In immunohistochemistry,the tissue cells were mainly S-100 and SOX-10,and CD34,Nestin and Vimentin were positive.4.Surgical removal of the tumor is the main treatment for neurofibromatosis.For the extensive distribution of the tumor or the deep infiltration,the use of palliative surgical resection,surgery can not cure,relieve clinical symptoms and improve quality of life is the key. |
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