SDH genetic testing, including tests for large genomic deletions, is indicated in all patients with head and neck and/or thoracic-abdominal or pelvic paraganglioma and can be targeted according to clinical criteria.
Transpetrosal approaches (translabyrinthine, widened retrolabyrinthine) are safe for vestibular schwannoma removal, and rates of postoperative complications and sequelae are decreasing.
The rarity of severe nerve lesions encountered in surgically treated patients raises the question of better selection of candidates for surgery. Surgery is clearly indicated when FP is total, is of immediate onset, and is associated with a bad prognosis electromyogram pattern. In other settings, decisions are to be made based on high-resolution CT data and electromyogram results, thanks to a clinical survey and second electromyogram evaluation.
The recommendation is to change the lifestyle, to use the vestibular rehabilitation in the intercritic period and to propose psychotherapy. As a conservative medical treatment of first line, the authors recommend to use diuretics and Betahistine or local pressure therapy. When medical treatment fails, the recommendation is to use a second line treatment, which consists in the intratympanic injection of steroids. Then as a third line treatment, depending on the hearing function, could be either the endolymphatic sac surgery (when hearing is worth being preserved) or the intratympanic injection of gentamicin (with higher risks of hearing loss). The very last option is the destructive surgical treatment labyrinthectomy, associated or not to cochlear implantation or vestibular nerve section (when hearing is worth being preserved), which is the most frequent option.
Our observations provide evidence that molecular genetic testing for VHL or RET germline mutations in patients with HNP should be done only if personal and/or family history shows evidence for one of these syndromes.
Our data suggest that less surgical treatment may be needed than is usually advocated for T1-T4a tumors and that surgery alone may be appropriate for T1-T3 tumors that have been resected with adequate margins in those patients for whom excellent follow-up is anticipated. No neck irradiation is indicated for N0 disease.
The association of ciprofloxacin and ceftazidime was efficient in countering the increasing resistance of P. aeruginosa to quinolones. We propose a prognostic classification of necrotizing external otitis based on the presence of facial paralysis and/or systemic factors.
Context
Pheochromocytomas and paragangliomas (PPGLs) are characterized by a strong genetic component, with up to 40% of patients carrying a germline mutation in a PPGL susceptibility gene. International guidelines recommend that genetic screening be proposed to all patients with PPGL.
Objective
Our objective was to evaluate how a positive genetic test impacts the management and outcome of patients with SDHx or VHL-related PPGL.
Design
We performed a multicentric retrospective study involving 221 propositi carrying an SDHB, SDHD, SDHC, or VHL germline mutation. Patients were divided into two groups: genetic patients, who were informed of their genetic status within the year following the first PPGL diagnosis, and historic patients, who only benefited from the genetic test several years after initial PPGL diagnosis.
Results
Genetic patients had better follow-up than historic patients, with a greater number of examinations and a reduced number of patients lost to follow-up (9.6% vs 72%, respectively). During follow-up, smaller (18.7 vs 27.6 mm; P = 0.0128) new PPGLs and metastases as well as lower metastatic spread were observed in genetic patients. Of note, these differences were reversed in the historic cohort after genetic testing. Genetic patients who developed metachronous metastases had a better 5-year survival rate than historic patients (P = 0.0127).
Conclusion
Altogether, our data suggest that early knowledge of genetic status had a positive impact on the management and clinical outcome of patients with a germline SDHx or VHL mutation.
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