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Is SDH gene mutation screening usefull to improve surgical outcomes in patients with neck paragangliomas?
Michele Piazza, M.D.1, Federico Boschiero, M.D.1, Mirko Menegolo, M.D.1, Elena Molon, M.D.1, Michele Antonello, M.D.1, Joseph J. Ricotta, Jr., M.D.2, Franco Grego, M.D.1.
1Clinic of Vascular and Endovascular Surgery, Padova University, School of Medicine, Italy, 2Vascular and Endovascular Surgery, Emory University, School of Medicine, GA, USA.

OBJECTIVES: To compare the outcomes in patients who underwent surgery for neck paragangliomas (NPs) before and after preoperative Succinate Deidrogenase (SDH) gene mutation analysis and genetic screening.
METHODS: Between 1995 and 2010, 36 consecutive patients underwent surgery. Two patients (5.5%) were excluded because of a post-operative histological diagnosis of schwannoma. Two groups were compared: Group A (1995-2003; n= 12/34, 35.29%) retrospectively evaluated for SDH gene mutation; Group B (2004-2010; n= 22/34, 64.7%) underwent preoperative genetic evaluation for SDH gene mutation and if positive the screening was extended to family members. Primary endpoints were: mass diameter, preoperative endovascular procedures (PEP), estimated blood loss (EBL), and cranial nerve injury (CNI). The secondary endpoint was to compare the number of new silent masses (NSM) discovered after genetic evaluation.
RESULTS: Overall, there was a higher incidence of females (n=23/34, 68%), mean age of 49±18 years, with no difference in demographics between groups A and B. The SDH mutation was found in 1 patients (8.3%) in Group A and 7 (31,8%) in Group B (p=.061). Of these, further evaluation led to the discovery of 4 NSM in Group B and 1 in Group A (18.2% vs 8.3%, p=.41). There was a significant increase in the number of small NP (Shamblin I or 5cm) compared to Group A (7.7% vs 13.6%, p=.31). PEP was performed in 5 cases only in group B (22% vs 0%, p<.05). EBL was less in Group B (104±286ml vs 396±554ml, p=.043) as was incidence of postoperative CNI at 30 days (21.7%, vs 53.8% p=.02) compared to Group A. No surgical related strokes or deaths were reported, as no signs of recurrence during follow-up (mean 49±11 months).
CONCLUSIONS: Even if larger number of patients are needed, preoperative genetic screening for SDH mutation together with new advanced technique in the treatment of NPs, has the potential to lead to earlier diagnosis and better surgical outcomes.


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