Early Diagnosis Of Intracranial Germ Cell Tumors In Children

ObjectiveThis study aims to analyze the clinical features of children with intracranial germ cell tumors(icGCTs),including clinical presentation,serum tumor markers(?-hCG and AFP),location and pituitary-target gland hormone levels,to explore early diagnostic indicators of intracranial germ cell tumors in children to guide clinical practice.MethodsThirty-five children with intracranial germ cell tumors from the Department of Pediatric Endocrinology and Tumor Radiology in our hospital from October 2010 to October 2018 were retrospectively reviewed.The information of these patients was collected through the electronic medical record system and telephone follow-up data.Age,gender,clinical symptoms,tumor sites,serum tumor markers(?-hCG and AFP)and pituitary-target gland hormone levels were recorded.Sixteen intracranial tumors suspected of being icGCTs(including 7 cases of craniopharyngioma and 9 cases of other tumors)were selected as the control group,and the level of ?-hCG was recorded and compared with the intracranial germ cell tumor group.According to whether ?-hCG elevated,it was divided into normal group and elevated group.The clinical characteristics of the two groups were analyzed.According to the lesions indicated by pituitary or brain MRI,it was divided into sellar region,pineal region,synchronous lesions in pineal and sellar(bifocal lesion),isolated pituitary stalk thickening and multifocal sites.And the clinical features of tumors at different sites were analyzed.Statistical analysis was performed with SPSS 25.0,the graphics were drawn using Graphpad Prism 7.Results1.Of the 35 patients,32 were diagnosed clinically and 3 were pathologically.There were 22 males(62.9%)and 13 females(37.1%)with an average age of 11.17±3·14 years(5.2 years to 17.3years)·2.Early clinical manifestations were 20 cases(57.1%)with polydipsia and polyuria;6 cases(17.1%)with male precocious puberty that of 5 cases' testicular volume was more than 4 ml and 3 with breast development;1 case with micropenis(2.8%),1 case with amenorrhea(2.8%);3 cases with growth retardation(8.6%);8 cases with headache and vomiting(22.8%);3 cases with decreased vision(8.5%);2 cases with limb hemiplegia(5.7%);2 cases(5.7%)with disturbance of consciousness and deterioration of the memory.In the late stage,there were 5 cases of headache and dizziness,and 8 cases of visual impairment.Delayed diagnosis were 11 cases(55%)with polydipsia and polyuria,4 cases(20%)with precocious puberty,3 cases(15%)with growth retardation,one case(5%)with headache and vomiting,and one case with sexual development retardation.3.Twenty-one of the 35 patients underwent pituitary-target gland hormone testing.There were 6 cases of one pituitary hormone deficiency,and 8 cases of multiple pituitary hormone deficiency.In 20 cases of polydipsia and polyuria,all identified as central diabetes insipidus by the water-deprivation test.Twenty-one patients underwent gonadal hormone concentrations,13 cases were increased in PRL;Six boys with precocious puberty underwent GnRH stimulation test.The peak of LH and FSH were all<1 mlU/mL,accompanied by an obvious increase in testosterone,estradiol and ?-hCG.The level of IGF-1 was detected in 10 cases,4 cases were significantly decreased and 2 cases underwent GH stimulation test,the peak of GH was<5ng/ml.Twenty-one patients underwent thyroid function,ACTH and cortisol test,11 patients with secondary hypothyroidism,and 9 patients with ACTH and cortisol reduction.4.?-hCG was detected in 30 cases,16 cases were elevated and 14 cases were normal.There was a statistically significant difference in ?-hCG between the icGCTs group and the non-icGCTs group(p=0.000).There was a statistically significant difference in precocious puberty between the p-hCG normal group and the elevated group(p=0.019).The p-hCG elevated group was further divided according to gender,and there was also a statistical difference in precocious puberty(p=0.012).All boys with elevated p-hCG and elevated testosterone manifestated as precocious puberty.Moreover,the peaks of LH and FSH in the GnRH test were extremely low,indicating peripheral precocious puberty.There was no precocious puberty in both male and female patients with normal p-hCG Twenty-six patients underwent serum AFP and 5 cases were elevated(accompanied by elevated hCG)with a median duration of symptom 2.3 months(10 days to 10 months).Serum p-hCG and AFP decreased to varying degrees after treatment.5.All patients underwent pituitary or brain Contrast-enhanced magnetic resonance imaging,and the tumors were significantly enhanced or inhomogeneous.The distribution of the tumors was as follows:Sixteen tumors(45.7%)were sellar,four cases in males and 12 cases in females.12 of them had polydipsia and polyuria.Eight in(22.9%)pineal,all were male,and 6 of them suffered from headache and vomiting.One case(2.8%)in bifocal and two cases(5.7%)was isolated pituitary stalk thickening.Eight cases(22.9%)in multifocal lesions with all boys.Follow-up 3 cases were found dynamic changes in MRI.Among them,2 cases manifested posterior pituitary disappeared,and the pituitary stalk gradually thickened,finally the saddle area occupied.One case was initially pituitary stalk thickened,and the saddle area occupied gradually.6.The average follow-up time was 36.3 months(1 month to 101 months).A total of 32 patients survived in 35 patients,and the 5-year survival rate was about 89.0%.Conclusions1.Intracranial germ cell tumors tend to occur in boy aged 11 or so.Polydipsia and polyuria,headache,vomiting,vision loss are more common.And the saddle area and the pineal region are typical sites.2.The initial onset of icGCTs may be accompanied by one or more pituitary-target gland hormone deficiency.In the early stage,it is characterized by polydipsia and polyuria,and male peripheral precocious puberty.3.Serum ?-hCG is an early diagnostic indicator of icGCTs,especially when precocious puberty happened in boy accompanied by elevated ?-hCG and testosterone.4.The absence of high signal in the posterior pituitary and the thickening of the pituitary stalk are the early pituitary MRI features of icGCTs.5.The icGCTs in the saddle area are more common in women.The clinical manifestations are polydipsia and polyuria,followed by headache,vomiting and vision loss.The pineal region is more common in boy,mainly in headache and vomiting.