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J Neurol Surg B Skull Base
DOI: 10.1055/a-2531-2230
Original Article

Multi-Institutional Modified Delphi For Genomics in Expert Consensus Survey of Genomic Testing for Anterior Skull Base Malignancies

Anirudh Saraswathula
1   Department of Otolaryngology–Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Shreya Sriram 
1   Department of Otolaryngology–Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Corinna Levine
2   Department of Otolaryngology–Head and Neck Surgery, University of Miami School of Medicine, Miami, Florida, United States
,
Nyall R. London Jr.
1   Department of Otolaryngology–Head and Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States
,
Shirley Y. Su
3   Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas, United States
,
Mathew Geltzeiler
4   Department of Otolaryngology–Head and Neck Surgery, Oregon Health Sciences University, Portland, Oregon, United States
,
Sanjeet V. Rangarajan
5   Department of Otolaryngology–Head and Neck Surgery, University of Tennessee Health Science Center, Nashville, Tennessee, United States
,
Ian Witterick 
6   Department of Otolaryngology–Head and Neck Surgery, University of Toronto, Toronto, Ontario, Canada
,
Brian Thorp
7   Department of Otolaryngology–Head and Neck Surgery, University of North Carolina-Chapel Hill, Chapel Hill, North Carolina, United States
,
Kathleen Kelly Gallagher
8   Department of Otolaryngology–Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, United States
,
Kenneth Byrd
9   Department of Otolaryngology–Head and Neck Surgery, Augusta University, Augusta, Georgia, United States
,
Ricardo Carrau
10   Department of Otolaryngology–Head and Neck Surgery, Ohio State University School of Medicine, Columbus, Ohio, United States
,
Waleed Abuzeid
11   Department of Otolaryngology–Head and Neck Surgery, University of Washington School of Medicine, Seattle, Washington, United States
,
Eric Wang
12   Department of Otolaryngology–Head and Neck Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States
,
Carl Snyderman 
12   Department of Otolaryngology–Head and Neck Surgery, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, United States
,
Erin L. McKean
13   Department of Otolaryngology–Head and Neck Surgery, University of Michigan Medical School, Ann Arbor, Michigan, United States
› Institutsangaben Funding A.S. was supported by the National Institute on Deafness and Other Communication Disorders of the National Institutes of Health (T32DC000027).
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Abstract

Objectives

The use of genomic testing for patients with anterior skull base malignancies has grown dramatically. There are no clear guidelines on indications for testing. As the literature on the subject is still in early stages, there is a need for expert consensus. We conducted a modified Delphi expert consensus process with high-volume North American cranial base surgical programs.

Design, Setting, Participants

A modified Delphi consensus approach was used, following the method laid out by the American Academy of Otolaryngology-Head and Neck Surgery, and included 13 high-volume care centers. An otolaryngologist was appointed at each location to serve as the institutional representative.

Main Outcome Measures

Participant responses to Delphi surveys were tabulated to determine consensus.

Results

Thirteen teams responded comprising 23 otolaryngologists and 10 neurosurgeons. Overall, 11 of 12 institutions reported genomic testing to be fairly or easily available at their location, and 22 of 38 initial statements achieved consensus. Statements achieving consensus focused on primary and recurrent rare tumors without possibility of margin-negative resection, those with family history of anterior skull base malignancies, or rare tumors with distant metastasis. Statements regarding routine genomic sequencing or for primary tumors and cost of care did not achieve consensus.

Conclusions

Expert multidisciplinary teams agreed on several appropriate settings for genomic sequencing in patients with anterior skull base malignancies, including recurrence, distant metastasis, and the inability to achieve a margin-negative resection. Further research is needed to explicitly clarify the role of genomic sequencing in this rare disease group.

Keywords

anterior skull base - genomic testing - Delphi - consensus

Supplementary Material



Publikationsverlauf

Eingereicht: 16. Mai 2024

Angenommen: 02. Februar 2025

Artikel online veröffentlicht:
04. März 2025

© 2025. Thieme. All rights reserved.

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 

  • References

  • 1 Franz L, Zanoletti E, Nicolai P, Ferrari M. Treatment of skull base diseases: a multidisciplinary challenge. J Clin Med 2023; 12 (04) 1492
    CrossrefPubMedSuche in Google Scholar
  • 2 Berger MF, Mardis ER. The emerging clinical relevance of genomics in cancer medicine. Nat Rev Clin Oncol 2018; 15 (06) 353-365
    CrossrefPubMedSuche in Google Scholar
  • 3 Irving RM, Moffat DA, Maher ER. Genetics of familial and non-familial skull base tumours. Clin Otolaryngol Allied Sci 1995; 20 (01) 5-11
    CrossrefPubMedSuche in Google Scholar
  • 4 Yuzawa S, Nishihara H, Tanaka S. Genetic landscape of meningioma. Brain Tumor Pathol 2016; 33 (04) 237-247
    CrossrefPubMedSuche in Google Scholar
  • 5 Lee YS, Lee YS. Molecular characteristics of meningiomas. J Pathol Transl Med 2020; 54 (01) 45-63
    CrossrefPubMedSuche in Google Scholar
  • 6 Venur VA, Santagata S, Galanis E, Brastianos PK. New molecular targets in meningiomas: the present and the future. Curr Opin Neurol 2018; 31 (06) 740-746
    CrossrefPubMedSuche in Google Scholar
  • 7 Sievers P, Hielscher T, Schrimpf D. et al. CDKN2A/B homozygous deletion is associated with early recurrence in meningiomas. Acta Neuropathol 2020; 140 (03) 409-413
    CrossrefPubMedSuche in Google Scholar
  • 8 Bai J, Shi J, Li C. et al. Whole genome sequencing of skull-base chordoma reveals genomic alterations associated with recurrence and chordoma-specific survival. Nat Commun 2021; 12 (01) 757
    CrossrefPubMedSuche in Google Scholar
  • 9 Riobello C, López-Hernández A, Cabal VN. et al. IDH2 mutation analysis in undifferentiated and poorly differentiated sinonasal carcinomas for diagnosis and clinical management. Am J Surg Pathol 2020; 44 (03) 396-405
    CrossrefPubMedSuche in Google Scholar
  • 10 Zhao M, Ma T, He X, Ge M. Targeted next-generation sequencing reveals activating CTNNB1 mutations in SMARCA4/BRG1-deficient sinonasal carcinomas: a report of two new cases and a brief review of the literature with an emphasis on histogenesis. Virchows Arch 2023; 482 (02) 453-460
    CrossrefPubMedSuche in Google Scholar
  • 11 Tenny S, Varacallo M. Chordoma. StatPearls Publishing; 2024. . Accessed March 10, 2024 at: http://www.ncbi.nlm.nih.gov/books/NBK430846/
    Suche in Google Scholar
  • 12 Roychowdhury S, Iyer MK, Robinson DR. et al. Personalized oncology through integrative high-throughput sequencing: a pilot study. Sci Transl Med 2011; 3 (111) 111ra121
    CrossrefPubMedSuche in Google Scholar
  • 13 Passeri T, Dahmani A, Masliah-Planchon J. et al. In vivo efficacy assessment of the CDK4/6 inhibitor palbociclib and the PLK1 inhibitor volasertib in human chordoma xenografts. Front Oncol 2022; 12: 960720
    CrossrefPubMedSuche in Google Scholar
  • 14 Birkeland AC, Burgin SJ, Yanik M. et al. Pathogenetic analysis of sinonasal teratocarcinosarcomas reveal actionable β-catenin overexpression and a β-catenin mutation. J Neurol Surg B Skull Base 2017; 78 (04) 346-352
    Thieme ConnectPubMedSuche in Google Scholar
  • 15 Belardinilli F, De Vincentiis L, D'Ecclesia A, Giannini G, Giangaspero F, Corsi A. PIK3CA somatic mutation in sinonasal teratocarcinosarcoma. Auris Nasus Larynx 2021; 48 (03) 530-534
    CrossrefPubMedSuche in Google Scholar
  • 16 Lopez DC, Wadley AE, London Jr NR. Emerging concepts in sinonasal tumor research. Curr Opin Otolaryngol Head Neck Surg 2022; 30 (01) 33-39
    CrossrefPubMedSuche in Google Scholar
  • 17 Strickland MR, Gill CM, Nayyar N. et al. Targeted sequencing of SMO and AKT1 in anterior skull base meningiomas. J Neurosurg 2017; 127 (02) 438-444
    CrossrefPubMedSuche in Google Scholar
  • 18 Youngblood MW, Duran D, Montejo JD. et al. Correlations between genomic subgroup and clinical features in a cohort of more than 3000 meningiomas. J Neurosurg 2019; 133 (05) 1345-1354
    CrossrefPubMedSuche in Google Scholar
  • 19 Rosenfeld RM, Nnacheta LC, Corrigan MD. Clinical consensus statement development manual. Otolaryngol Head Neck Surg 2015; 153 (2, Suppl): S1-S14
    CrossrefPubMedSuche in Google Scholar
  • 20 North American Skull Base Society. Multidisciplinary teams of distinction. NASBS; 2023. . Accessed May 24, 2023 at: https://www.nasbs.org/nasbs-mtd/
    Suche in Google Scholar
  • 21 Lee VHF, Tsang RKY, Lo AWI. et al. SMARCB1 (INI-1)-deficient sinonasal carcinoma: a systematic review and pooled analysis of treatment outcomes. Cancers (Basel) 2022; 14 (13) 3285
    CrossrefPubMedSuche in Google Scholar
  • 22 Qin D. Next-generation sequencing and its clinical application. Cancer Biol Med 2019; 16 (01) 4-10
    CrossrefPubMedSuche in Google Scholar
  • 23 Rehder C, Bean LJH, Bick D. et al; ACMG Laboratory Quality Assurance Committee. Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2021; 23 (08) 1399-1415
    CrossrefPubMedSuche in Google Scholar
  • 24 Phillips KA, Douglas MP, Wordsworth S, Buchanan J, Marshall DA. Availability and funding of clinical genomic sequencing globally. BMJ Glob Health 2021; 6 (02) e004415
    CrossrefPubMedSuche in Google Scholar
  • 25 Kaufman D, Curnutte M, McGuire AL. Clinical integration of next generation sequencing: a policy analysis. J Law Med Ethics 2014; 42 (Suppl 1, Suppl 1): 5-8
    CrossrefPubMedSuche in Google Scholar
  • 26 Deverka PA, Dreyfus JC. Clinical integration of next generation sequencing: coverage and reimbursement challenges. J Law Med Ethics 2014; 42 (Suppl 1, Suppl 1) 22-41
    CrossrefPubMedSuche in Google Scholar
  • 27 Schwarze K, Buchanan J, Taylor JC, Wordsworth S. Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature. Genet Med 2018; 20 (10) 1122-1130
    CrossrefPubMedSuche in Google Scholar
  • 28 Zitsch III RP, Lee BW, Smith RB. Cervical lymph node metastases and squamous cell carcinoma of the lip. Head Neck 1999; 21 (05) 447-453
    CrossrefPubMedSuche in Google Scholar
  • 29 Shen Y, Li X, Tao L, Chen Y, Xie R. Clinical efficacy of intraoperative ultrasound for prophylactic lymphadenectomy of the lateral cervical neck in stage CN0 papillary thyroid cancer: a prospective study. J Invest Surg 2023; 36 (01) 2154416
    CrossrefPubMedSuche in Google Scholar
  • 30 Ruiz EML, Niu T, Zerfaoui M. et al. A novel gene panel for prediction of lymph-node metastasis and recurrence in patients with thyroid cancer. Surgery 2020; 167 (01) 73-79
    CrossrefPubMedSuche in Google Scholar
  • 31 Thompson LDR. Olfactory neuroblastoma. Head Neck Pathol 2009; 3 (03) 252-259
    CrossrefPubMedSuche in Google Scholar
  • 32 Joshi VV, Thombare P, Verma M, Kamat N, Patkar D. Primary skull base neuroendocrine carcinoma-a case report and review of literature. Radiol Case Rep 2020; 15 (07) 1071-1077
    CrossrefPubMedSuche in Google Scholar
  • 33 Goel R, Ramalingam K, Ramani P, Chandrasekar T. Sino nasal undifferentiated carcinoma: a rare entity. J Nat Sci Biol Med 2012; 3 (01) 101-104
    CrossrefPubMedSuche in Google Scholar
  • 34 Papadaki H, Kounelis S, Kapadia SB, Bakker A, Swalsky PA, Finkelstein SD. Relationship of p53 gene alterations with tumor progression and recurrence in olfactory neuroblastoma. Am J Surg Pathol 1996; 20 (06) 715-721
    CrossrefPubMedSuche in Google Scholar
  • 35 Romani C, Bignotti E, Mattavelli D. et al. Gene expression profiling of olfactory neuroblastoma helps identify prognostic pathways and define potentially therapeutic targets. Cancers (Basel) 2021; 13 (11) 2527
    CrossrefPubMedSuche in Google Scholar
  • 36 Gordon LG, White NM, Elliott TM. et al. Estimating the costs of genomic sequencing in cancer control. BMC Health Serv Res 2020; 20 (01) 492
    CrossrefPubMedSuche in Google Scholar
  • 37 Sahm F, Schrimpf D, Jones DTW. et al. Next-generation sequencing in routine brain tumor diagnostics enables an integrated diagnosis and identifies actionable targets. Acta Neuropathol 2016; 131 (06) 903-910
    CrossrefPubMedSuche in Google Scholar
  • 38 Lemmon CA, Zhou J, Hobbs B, Pennell NA. Modeling costs and life-years gained by population-wide next-generation sequencing or single-gene testing in nonsquamous non-small-cell lung cancer in the United States. JCO Precis Oncol 2023; 7 (07) e2200294
    CrossrefPubMedSuche in Google Scholar
  • 39 Vanderpoel J, Stevens AL, Emond B. et al. Total cost of testing for genomic alterations associated with next-generation sequencing versus polymerase chain reaction testing strategies among patients with metastatic non-small cell lung cancer. J Med Econ 2022; 25 (01) 457-468
    CrossrefPubMedSuche in Google Scholar
  • 40 Zou D, Ye W, Hess LM. et al. Diagnostic value and cost-effectiveness of next-generation sequencing-based testing for treatment of patients with advanced/metastatic non-squamous non-small-cell lung cancer in the United States. J Mol Diagn 2022; 24 (08) 901-914
    CrossrefPubMedSuche in Google Scholar
  • 41 Grether A, Ivanovski I, Russo M. et al. The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Mol Genet Genomic Med 2023; 11 (05) e2148
    CrossrefPubMedSuche in Google Scholar
  • 42 Davidson AL, Dressel U, Norris S. et al. The clinical utility and costs of whole-genome sequencing to detect cancer susceptibility variants-a multi-site prospective cohort study. Genome Med 2023; 15 (01) 74
    CrossrefPubMedSuche in Google Scholar
  • 43 Waarts MR, Stonestrom AJ, Park YC, Levine RL. Targeting mutations in cancer. J Clin Invest 2022; 132 (08) e154943
    CrossrefPubMedSuche in Google Scholar
  • 44 Majeed H, Gupta V. Adverse Effects of Radiation Therapy. Stat Pearls; 2022
    Suche in Google Scholar
  • 45 Castelnuovo P, Turri-Zanoni M, Battaglia P, Antognoni P, Bossi P, Locatelli D. Sinonasal malignancies of anterior skull base: histology-driven treatment strategies. Otolaryngol Clin North Am 2016; 49 (01) 183-200
    CrossrefPubMedSuche in Google Scholar
  • 46 Mangat PK, Halabi S, Bruinooge SS. et al. Rationale and design of the targeted agent and profiling utilization registry (TAPUR) study. JCO Precis Oncol 2018; 2018 (02) 1-14
    CrossrefPubMedSuche in Google Scholar
  • 47 Chapman PB, Hauschild A, Robert C. et al; BRIM-3 Study Group. Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 2011; 364 (26) 2507-2516
    CrossrefPubMedSuche in Google Scholar
  • 48 Hyman DM, Puzanov I, Subbiah V. et al. Vemurafenib in multiple nonmelanoma cancers with BRAF V600 mutations. N Engl J Med 2015; 373 (08) 726-736
    CrossrefPubMedSuche in Google Scholar