PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients

Konstantin Krüger; Audrey Grust; David Muallah; Adrian Patenge; Harriet Wikman; Maria Medina Mesa; Eike Sören Knust; Alexander Sartori; Ralf Smeets; Lan Kluwe; Reinhard E Friedrich; Simon Burg

doi:10.21873/anticanres.17044

PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients

Standard

PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients. / Krüger, Konstantin ; Grust, Audrey; Muallah, David; Patenge, Adrian; Wikman, Harriet; Mesa, Maria Medina; Knust, Eike Sören; Sartori, Alexander; Smeets, Ralf ; Kluwe, Lan ; Friedrich, Reinhard E ; Burg, Simon.

In: ANTICANCER RES, Vol. 44, No. 6, 06.2024, p. 2369-2376.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Krüger, K , Grust, A, Muallah, D, Patenge, A, Wikman, H, Mesa, MM, Knust, ES, Sartori, A, Smeets, R , Kluwe, L , Friedrich, RE & Burg, S 2024, 'PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients', ANTICANCER RES, vol. 44, no. 6, pp. 2369-2376. https://doi.org/10.21873/anticanres.17044

APA

Krüger, K., Grust, A., Muallah, D., Patenge, A., Wikman, H., Mesa, M. M., Knust, E. S., Sartori, A., Smeets, R., Kluwe, L., Friedrich, R. E., & Burg, S. (2024). PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients. ANTICANCER RES, 44(6), 2369-2376. https://doi.org/10.21873/anticanres.17044

Vancouver

Krüger K , Grust A, Muallah D, Patenge A, Wikman H, Mesa MM et al. PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients. ANTICANCER RES. 2024 Jun;44(6):2369-2376. https://doi.org/10.21873/anticanres.17044

Bibtex

@article{e7c993a00831491a811f5bf752103cec,

title = "PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients",

abstract = "BACKGROUND/AIM: This study aimed at the analogous detection of PIK3CA mutations, common in oral squamous cell carcinoma (OSCC), in matched tumor and saliva samples.PATIENTS AND METHODS: Tissue and saliva samples were obtained from 29 patients diagnosed with primary OSCC. Saliva samples were obtained preoperatively; tissue specimens were acquired during tumor resection. Tumor DNA was extracted from both tissue and saliva samples. All samples were controlled for DNA quantity and quality and genetic matching of sample pairs was confirmed using the iPlex Pro Exome QC Panel. Variant detection was performed using the MassARRAY{\textregistered} System, a mass-spectrometry based detection system. Mutational analysis in tissue tumor DNA was made using the multiplexed ClearSEEK{\texttrademark} PIK3CA v1.0 Panel covering 20 hotspot mutations in PIK3CA. In saliva samples, variants were analyzed using both the ClearSEEK{\texttrademark} and the UltraSEEK{\textregistered} Lung v1.1 Panel, with a higher limit of detection but covering less PIK3CA variants.RESULTS: Overall, a PIK3CA variant was found in seven of the 29 tumor tissue samples (24%) by ClearSEEK{\texttrademark}; UltraSEEK{\textregistered} additionally confirmed the variant in four of these seven positive samples. Of the three variants not detected by UltraSEEK{\textregistered}, two were not included in the panel and one was included but not detected. Of the seven variants found in tissue, five could also be detected in the matching saliva samples (71%), either by utilizing ClearSEEK{\texttrademark} or UltraSEEK{\textregistered} Conclusion: The detection of PIK3CA hotspot mutations in OSCC and their simultaneous occurrence in saliva underline the potential benefit of liquid biopsies for non-invasive cancer detection and follow-up care of OSCC patients.",

keywords = "Humans, Class I Phosphatidylinositol 3-Kinases/genetics, Saliva, Mouth Neoplasms/genetics, Mutation, Biomarkers, Tumor/genetics, Female, Male, Middle Aged, Aged, Carcinoma, Squamous Cell/genetics, DNA Mutational Analysis/methods, Aged, 80 and over, Adult",

author = "Konstantin Kr{\"u}ger and Audrey Grust and David Muallah and Adrian Patenge and Harriet Wikman and Mesa, {Maria Medina} and Knust, {Eike S{\"o}ren} and Alexander Sartori and Ralf Smeets and Lan Kluwe and Friedrich, {Reinhard E} and Simon Burg",

year = "2024",

month = jun,

doi = "10.21873/anticanres.17044",

language = "English",

volume = "44",

pages = "2369--2376",

journal = "ANTICANCER RES",

issn = "0250-7005",

publisher = "International Institute of Anticancer Research",

number = "6",

}

RIS

TY - JOUR

T1 - PIK3CA Hotspot Mutations in Saliva as a Diagnostic Marker in Oral Squamous Cell Carcinoma Patients

AU - Krüger, Konstantin

AU - Grust, Audrey

AU - Muallah, David

AU - Patenge, Adrian

AU - Wikman, Harriet

AU - Mesa, Maria Medina

AU - Knust, Eike Sören

AU - Sartori, Alexander

AU - Smeets, Ralf

AU - Kluwe, Lan

AU - Friedrich, Reinhard E

AU - Burg, Simon

PY - 2024/6

Y1 - 2024/6

N2 - BACKGROUND/AIM: This study aimed at the analogous detection of PIK3CA mutations, common in oral squamous cell carcinoma (OSCC), in matched tumor and saliva samples.PATIENTS AND METHODS: Tissue and saliva samples were obtained from 29 patients diagnosed with primary OSCC. Saliva samples were obtained preoperatively; tissue specimens were acquired during tumor resection. Tumor DNA was extracted from both tissue and saliva samples. All samples were controlled for DNA quantity and quality and genetic matching of sample pairs was confirmed using the iPlex Pro Exome QC Panel. Variant detection was performed using the MassARRAY® System, a mass-spectrometry based detection system. Mutational analysis in tissue tumor DNA was made using the multiplexed ClearSEEK™ PIK3CA v1.0 Panel covering 20 hotspot mutations in PIK3CA. In saliva samples, variants were analyzed using both the ClearSEEK™ and the UltraSEEK® Lung v1.1 Panel, with a higher limit of detection but covering less PIK3CA variants.RESULTS: Overall, a PIK3CA variant was found in seven of the 29 tumor tissue samples (24%) by ClearSEEK™; UltraSEEK® additionally confirmed the variant in four of these seven positive samples. Of the three variants not detected by UltraSEEK®, two were not included in the panel and one was included but not detected. Of the seven variants found in tissue, five could also be detected in the matching saliva samples (71%), either by utilizing ClearSEEK™ or UltraSEEK® Conclusion: The detection of PIK3CA hotspot mutations in OSCC and their simultaneous occurrence in saliva underline the potential benefit of liquid biopsies for non-invasive cancer detection and follow-up care of OSCC patients.

AB - BACKGROUND/AIM: This study aimed at the analogous detection of PIK3CA mutations, common in oral squamous cell carcinoma (OSCC), in matched tumor and saliva samples.PATIENTS AND METHODS: Tissue and saliva samples were obtained from 29 patients diagnosed with primary OSCC. Saliva samples were obtained preoperatively; tissue specimens were acquired during tumor resection. Tumor DNA was extracted from both tissue and saliva samples. All samples were controlled for DNA quantity and quality and genetic matching of sample pairs was confirmed using the iPlex Pro Exome QC Panel. Variant detection was performed using the MassARRAY® System, a mass-spectrometry based detection system. Mutational analysis in tissue tumor DNA was made using the multiplexed ClearSEEK™ PIK3CA v1.0 Panel covering 20 hotspot mutations in PIK3CA. In saliva samples, variants were analyzed using both the ClearSEEK™ and the UltraSEEK® Lung v1.1 Panel, with a higher limit of detection but covering less PIK3CA variants.RESULTS: Overall, a PIK3CA variant was found in seven of the 29 tumor tissue samples (24%) by ClearSEEK™; UltraSEEK® additionally confirmed the variant in four of these seven positive samples. Of the three variants not detected by UltraSEEK®, two were not included in the panel and one was included but not detected. Of the seven variants found in tissue, five could also be detected in the matching saliva samples (71%), either by utilizing ClearSEEK™ or UltraSEEK® Conclusion: The detection of PIK3CA hotspot mutations in OSCC and their simultaneous occurrence in saliva underline the potential benefit of liquid biopsies for non-invasive cancer detection and follow-up care of OSCC patients.

KW - Humans

KW - Class I Phosphatidylinositol 3-Kinases/genetics

KW - Saliva

KW - Mouth Neoplasms/genetics

KW - Mutation

KW - Biomarkers, Tumor/genetics

KW - Female

KW - Male

KW - Middle Aged

KW - Aged

KW - Carcinoma, Squamous Cell/genetics

KW - DNA Mutational Analysis/methods

KW - Aged, 80 and over

KW - Adult

U2 - 10.21873/anticanres.17044

DO - 10.21873/anticanres.17044

M3 - SCORING: Journal article

C2 - 38821622

VL - 44

SP - 2369

EP - 2376

JO - ANTICANCER RES

JF - ANTICANCER RES

SN - 0250-7005

IS - 6

ER -