TY - JOUR
T1 - Separating distant recurrences from second primaries in head and neck squamous cell carcinomas
T2 - A DAHANCA group analysis on paired tumor samples
AU - Kjems, Julie
AU - Lilja-Fischer, Jacob Kinggaard
AU - Friborg, Jeppe
AU - Tramm, Trine
AU - Overgaard, Jens
PY - 2024/10
Y1 - 2024/10
N2 - 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: 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: 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: 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.
AB - 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: 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: 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: 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.
KW - distant metastases
KW - human papillomavirus
KW - next-generation sequencing
KW - secondary primary tumors
KW - TP53
UR - http://www.scopus.com/inward/record.url?scp=85189561773&partnerID=8YFLogxK
U2 - 10.1002/hed.27750
DO - 10.1002/hed.27750
M3 - Journal article
C2 - 38528796
AN - SCOPUS:85189561773
SN - 1043-3074
VL - 46
SP - 2532
EP - 2539
JO - Head and Neck
JF - Head and Neck
IS - 10
ER -