Alpha Omega Alpha Honor Medical Society

2010 Research Abstract

Noninvasive detection of phosphatidylinositol 3-kinase, catalytic subunit p110α (PIK3CA) mutations in patients with known head and neck squamous cell carcinoma (HNSCC)

Investigator: Yuna Larrabee, Columbia University College of Physicians and Surgeons

Mentor: Gloria H. Su, PhD, Columbia University College of Physicians and Surgeons

Background: At present, no effective screening modality exists to detect a recurrence of HNSCC. PIK3CA is an oncogene that is mutated in 11% of HNSCC and we are investigating if PIK3CA can be utilized as a component of future HNSCC assessment. The three most frequent mutations of PIK3CA are oncogenic and found within exons 20 and 9 (H1047R, E545K, and E542K). Utilizing mutant-enriched sequencing methods can improve the sensitivity of detecting all three hot-spot changes.

Methods: RNA from the HNSCC cell line Detroit 562 with the known mutation H1047R was converted into cDNA by reverse transcription and then utilized to develop the mutant-enriched sequencing method for each of the three PIK3CA mutations. RNA was extracted from saliva collected from one control and three patients with a history of former HNSCC. The patients' RNA was converted into cDNA and then amplified for each of the three hot-spot mutation sites.

Results: We developed a successful protocol using Detroit RNA for mutant-enriched sequencing using cDNA for each of the three hot-spot mutations in PIK3CA. The protocol must be optimized for use of patient RNA, however preliminary results are promising that this can be accomplished.

Conclusion: If the sensitivity and specificity is high in detecting PIK3CA mutations in saliva samples, it could potentially allow earlier detection of HNSCC, improve clinical diagnosis, impact treatment options, and ultimately improve survival.

Updated on June 16, 2011.

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