Separating distant recurrences from second primaries in head and neck squamous cell carcinomas - A DAHANCA group analysis on paired tumor samples.
TP53
distant metastases
human papillomavirus
next‐generation sequencing
secondary primary tumors
Journal
Head & neck
ISSN: 1097-0347
Titre abrégé: Head Neck
Pays: United States
ID NLM: 8902541
Informations de publication
Date de publication:
25 Mar 2024
25 Mar 2024
Historique:
received:
08
02
2024
accepted:
12
03
2024
medline:
26
3
2024
pubmed:
26
3
2024
entrez:
26
3
2024
Statut:
aheadofprint
Résumé
In head and neck squamous cell carcinomas (HNSCC), there is no clinically available method to separate distant metastases (DMs) from SCC secondary primary tumors. The study aimed to assess the genetic relationship in paired tumor samples. Patients with pairs of solid biopsies from the primary HNSCC and suspected DMs were identified (2007-2017). Targeted next-generation sequencing of 22 genes was applied, including TP53, supplemented with human papillomavirus (HPV) genotyping. Of 55 pairs obtained, 33 were successfully analyzed. Distant biopsies included lung, liver, and bone. A genetic match was found in 23/33 (70%) patients, primarily with identical TP53 mutations or HPV genotypes. In 10/33 patients (30%), the genetic relationship was absent, all with lung involvement. In patients with no lung involvement, 8/8 had a match. One-third of patients with DMs in HNSCC lack a genetic relationship with the primary tumors. The risk of misclassification is most prominent for patients with lung involvement.
Sections du résumé
BACKGROUND
BACKGROUND
In head and neck squamous cell carcinomas (HNSCC), there is no clinically available method to separate distant metastases (DMs) from SCC secondary primary tumors. The study aimed to assess the genetic relationship in paired tumor samples.
METHODS
METHODS
Patients with pairs of solid biopsies from the primary HNSCC and suspected DMs were identified (2007-2017). Targeted next-generation sequencing of 22 genes was applied, including TP53, supplemented with human papillomavirus (HPV) genotyping.
RESULTS
RESULTS
Of 55 pairs obtained, 33 were successfully analyzed. Distant biopsies included lung, liver, and bone. A genetic match was found in 23/33 (70%) patients, primarily with identical TP53 mutations or HPV genotypes. In 10/33 patients (30%), the genetic relationship was absent, all with lung involvement. In patients with no lung involvement, 8/8 had a match.
CONCLUSIONS
CONCLUSIONS
One-third of patients with DMs in HNSCC lack a genetic relationship with the primary tumors. The risk of misclassification is most prominent for patients with lung involvement.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Kræftens Bekæmpelse
ID : R231-A14155
Organisme : Kræftens Bekæmpelse
ID : R146-A9519
Informations de copyright
© 2024 The Authors. Head & Neck published by Wiley Periodicals LLC.
Références
Kjems J, Zukauskaite R, Johansen J, et al. Distant metastases in squamous cell carcinoma of the pharynx and larynx: a population‐based DAHANCA study. Acta Oncol. 2021;60:1472‐1480. doi:10.1080/0284186X.2021.1959056
Nielsen SF, Nordestgaard BG, Bojesen SE. Associations between first and second primary cancers: a population‐based study. Can Med Assoc J. 2012;184:E57‐E69. doi:10.1503/CMAJ.110167
Geurts TW, Nederlof PM, van den Brekel MWM, et al. Pulmonary squamous cell carcinoma following head and neck squamous cell carcinoma: metastasis or second primary? Clin Cancer Res. 2005;11:6608‐6614. doi:10.1158/1078‐0432.CCR‐05‐0257
Chuang SC, Scelo G, Tonita JM, et al. Risk of second primary cancer among patients with head and neck cancers: a pooled analysis of 13 cancer registries. Int J Cancer. 2008;123:2390‐2396. doi:10.1002/IJC.23798
Crippen MM, Brady JS, Burke LA, Eloy JA, Baredes S, Park RCW. Second primary lung malignancy following head and neck squamous cell carcinoma. Laryngoscope. 2019;129:903‐909. doi:10.1002/LARY.27422
Daher T, Tur MK, Brobeil A, et al. Combined human papillomavirus typing and TP53 mutation analysis in distinguishing second primary tumors from lung metastases in patients with head and neck squamous cell carcinoma. Head Neck. 2018;40:1109‐1119. doi:10.1002/hed.25041
Tvilum M, Lutz CM, Knap MM, et al. Different benefits of adaptive radiotherapy for different histologies of NSCLC. Acta Oncol. 2023;62(11):1426‐1432. doi:10.1080/0284186X.2023.2260944
Van Oijen MGCT, Leppers Vd Straat FG, Tilanus MG, Slootweg P. The origins of multiple squamous cell carcinomas in the aerodigestive tract. Cancer. 2000;88:884‐893. doi:10.1002/(SICI)1097‐0142(20000215)88:4<884::AID‐CNCR20>3.0.CO;2‐S
Lilja‐Fischer JK, Sakso M, Stougaard M, Steiniche T, Overgaard J. Distinguishing recurrence and new primary tumor as well as the origin of neck metastases in head and neck cancer clinical trials by targeted DNA sequencing. Acta Oncol. 2019;58:1506‐1508. doi:10.1080/0284186X.2019.1629015
The Danish Pathology Register. Accessed November 14, 2023. https://ncrr.au.dk/danish-registers/the-danish-pathology-register
Lilja‐Fischer JK, Kristensen MH, Lassen P, et al. HPV testing versus p16 immunohistochemistry in oropharyngeal squamous cell carcinoma: results from the DAHANCA 19 study. Acta Oncol. 2023;62:1384‐1388. doi:10.1080/0284186X.2023.2266127
Geurts TW, Van Velthuysen MLF, Broekman F, et al. Differential diagnosis of pulmonary carcinoma following head and neck cancer by genetic analysis. Clin Cancer Res. 2009;15:980‐985. doi:10.1158/1078‐0432.CCR‐08‐1968
Campbell JD, Yau C, Bowlby R, et al. Genomic, pathway network, and immunologic features distinguishing squamous carcinomas. Cell Rep. 2018;23:194‐212. doi:10.1016/J.CELREP.2018.03.063
Lawrence MS, Sougnez C, Lichtenstein L, et al. Comprehensive genomic characterization of head and neck squamous cell carcinomas. Nature. 2015;517:576‐582. doi:10.1038/NATURE14129
van Ginkel JH, de Leng WWJ, de Bree R, et al. Targeted sequencing reveals TP53 as a potential diagnostic biomarker in the post‐treatment surveillance of head and neck cancer. Oncotarget. 2016;7:61575‐61586. doi:10.18632/ONCOTARGET.11196
Nathan CA, Khandelwal AR, Wolf GT, et al. TP53 mutations in head and neck cancer. Mol Carcinog. 2022;61:385‐391. doi:10.1002/MC.23385
COSMIC – Catalogue of Somatic Mutations in Cancer. Accessed November 9, 2023. https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=TP53
Lin DC, Meng X, Hazawa M, et al. The genomic landscape of nasopharyngeal carcinoma. Nat Genet. 2014;46:866‐871. doi:10.1038/NG.3006
Bhatia A, Burtness B. Treating head and neck cancer in the age of immunotherapy: a 2023 update. Drugs. 2023;83:217‐248. doi:10.1007/S40265‐023‐01835‐2
Kjems J, Laursen MRT, Kristensen CA, et al. The potential for local ablative therapy of oligometastases in head and neck squamous cell carcinoma: a real‐world data analysis. Acta Oncol. 2023;62:1091‐1095. doi:10.1080/0284186X.2023.2241986
de Roest RH, Mes SW, Poell JB, et al. Molecular characterization of locally relapsed head and neck cancer after concomitant chemoradiotherapy. Clin Cancer Res. 2019;25:7256‐7265. doi:10.1158/1078‐0432.CCR‐19‐0628
Gram SB, Alosi D, Bagger FO, et al. Clinical implication of genetic intratumor heterogeneity for targeted therapy in head and neck cancer. Acta Oncol. 2023;62:1831‐1839. doi:10.1080/0284186X.2023.2272293