Clinical Analysis Of 192 Cases Of Pheochromocytoma And Paraganglioma

Objective: To analyze the clinical features of pheochromocytoma and paraganglioma(PPGL),which includes clinical manifestations,biochemical and imaging features,perioperative management,pathology and postoperative follow-up,so as to improve the diagnosis and treatment of PPGL.Methods: The clinical data of 192 patients who were initially diagnosed and treated at our hospital from January 2016 to December2020 and pathologically confirmed with PPGL were retrospectively analyzed and divided into head and neck paraganglioma(HNPGL)group and non-HNPGL group.The non-HNPGL group was divided into pheochromocytoma(PCC)group and extra-adrenal PGL group according to the site;it was also divided into small diameter group(diameter ≤ 3 cm,S group),large diameter group(3 cm < diameter ≤ 6 cm,L group)and giant diameter group(diameter > 6 cm,G group)according to the maximum diameter of the tumor.Results:(1)In 192 PPGL patients,the onset age was 8-81 years old,of which median was 50 years old.103 patients were first diagnosed in urology department,each 18 patients in endocrinology and vascular surgery department.Among the three major depart-ments with high consultation rates,15 patients in urology and 6 patients in vascular surgery had a preoperative diagnosis without consideration of PPGL,and1 patient in endocrinology had a diagnosis of non-functional adenoma.109 patients associated with hypertension,and 31 patients were asymptomatic.In addition to the classic symptoms of "headache,palpitation and excessive sweating",others included dizziness,abdominal pain,nausea/vomiting,back pain and chest tightness.(2)Compared with the HNPGL group,the non-HNPGL group had significantly higher maximum tumor diameter and were more likely to associate with hypertension and glucose abnormalities.(3)In non-HNPGL cases,the proportion of preoperative α-adrenergic blockade was significantly higher in the PCC group than in the extra-adrenal PGL group(P < 0.001);the proportion of preoperative preoperative α-adrenergic blockade and open surgery were higher in the L and G groups than in the S group.The numbers of cases carrying HRAS,VHL,RET,NF1,FGFR1 and SDHx gene mutations in PCC group were 16,11,10,9,3 and 3,respectively.While,the numbers of HRAS,VHL,RET,NF1,FGFR1 and SDHx gene mutations in the extra-adrenal PGL group were 12,1,1,1,10 and 5,respectively.(4)5 of the 6 patients secreting NE and 8 of the 9patients secreting mixed CA had a diameter greater than 3 cm;8 of the 14 adrenal PCC secreted mixed CA and 3 of the 7 extra-adrenal PGL secreted NE.(5)In 118 cases of patients who improved gene test,92 cases were positive for gene mutations,mainly including HRAS(28 cases),FGFR1(13 cases),VHL(12 cases),RET(11 cases),NF1(10 cases),SDHx(8 cases),and TMEM127(3 cases),and the rest were seen in IDH1,EPAS1,EGLN1,ATRX,etc.(6)Of the 162 patients(30 cases lost to follow-up),66 were regularly reviewed,and discovered 5 patients with recurrence/metastasis;and 93 were not reviewed again except within 3months after surgery.In 6 patients with recurrence/metastasis(including one patient with metastases at first diagnosed),the youngest was 8 years old and the oldest was 48 years old;all had a maximum tumor diameter greater than 3 cm;3 patients had a positive Ki67 rate greater than 2%;4patients carried genetic mutations,1 had a negative genetic test,and 1 did not have gene test.Conclusion:(1)The peak incidence of PPGL is in the age group of45-55 years.Comprehensive biochemical tests and multidisciplinary cooperation can improve the diagnosis rate of PPGL.(2)The tumor diameters of patients with NE-secreting PPGL and mixed PPGL are mostly larger;while adrenal PCC mainly secretes CA in mixed type,and extra-adrenal PGL mainly secretes NE.(3)Tumor size is one of the factors that determines the surgical approach;the awareness of preoperative oral α-blockers needs to be improved.(4)PPGL patients with negative peripheral blood genetic test results are recommended to improve genetic testing of pathological specimens to clarify the presence or absence of somatic mutations.The frequency of VHL,RET,and NF1 mutations in PCC patients was higher than that in patients with extra-adrenal PGL,while the frequency of FGFR1 and SDHx mutations was reversed.(5)The recurrence/metastasis of PPGL may be related to age of onset,tumor diameter,Ki67 positivity rate and the presence of genetic mutations,and regular follow-up after surgery can help assess recurrence/metastasis.