Noninvasive Genetic Detection Of Head And Neck Squamous Cell Carcinoma

Main Category: Cancer / Oncology
Also Included In: Ear, Nose and Throat
Article Date: 17 Apr 2008 - 4:00 PST

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Analyzing the DNA in one's saliva may detect early signs of head and neck squamous cell carcinoma (HNSCC), according to researchers from the Henry Ford Hospital in Detroit.

Currently, most cases of HNSCC are diagnosed in advanced stages when prognosis is poor, says lead researcher Seema Sethi, M.D., of the Department of Otolaryngology-Head and Neck Surgery at Henry Ford Hospital in Detroit. "However, the development of the disease in high-risk populations, such as smokers, takes many years. This 'window' period offers a unique opportunity to screen for HNSCC. This exploratory study indicates potential gene-based HNSCC detection," she said.

Sethi and her colleagues took saliva samples from 27 patients with HNSCC and 10 healthy control participants, and extracted DNA from the samples. Using a multiplex ligation-dependent probe amplification assay, the researchers examined 82 genes with known associations to HNSCC.

The data were analyzed to determine whether genetic alterations distinguished subjects with HNSCC from healthy controls. Eleven genes showed a high individual predictive ability for HNSCC.

The researchers then examined PMAIP1, a tumor suppression gene on chromosome 18, and PTPN1, an oncogene on chromosome 20. An increase in PMAIP1 alone or with an increase in PTPN1 identified all subjects with HNSCC with 100 percent sensitivity, the true positive rate, and 100 percent specificity, the true negative rate. Further validation results showed a sensitivity of 96 percent and a specificity of 90 percent.

The other nine genes that showed some predictive ability were: ERBB2, ABCC4, UTY, DNMT1, CDKN2B, CDKN2D, NFKB1, TP53 and DCC.

More than 40,000 Americans are affected by HNSCC and approximately 12,000 die of it annually, according to the researchers. "Early detection of HNSCC will reduce the mortality, devastating morbidities and associated health care costs," Sethi said.

The results of the study are preliminary, Sethi stresses, but she expects that the analysis could detect HNSCC at its earliest stage. As for why these genes in particular were associated with HNSCC detection, Sethi said, "The genes are located at chromosomal segments that have been reported as commonly altered in HNSCC and therefore may be relevant to HSNCC."

This was presented at the 2008 Annual Meeting of the American Association for Cancer Research.

The mission of the American Association for Cancer Research is to prevent and cure cancer. Founded in 1907, AACR is the world's oldest and largest professional organization dedicated to advancing cancer research. The membership includes nearly 27,000 basic, translational, and clinical researchers; health care professionals; and cancer survivors and advocates in the United States and more than 70 other countries. AACR marshals the full spectrum of expertise from the cancer community to accelerate progress in the prevention, diagnosis and treatment of cancer through high-quality scientific and educational programs. It funds innovative, meritorious research grants. The AACR Annual Meeting attracts more than 17,000 participants who share the latest discoveries and developments in the field. Special Conferences throughout the year present novel data across a wide variety of topics in cancer research, treatment, and patient care. AACR publishes five major peer-reviewed journals: Cancer Research; Clinical Cancer Research; Molecular Cancer Therapeutics; Molecular Cancer Research; and Cancer Epidemiology, Biomarkers & Prevention. Its most recent publication and its sixth major journal, Cancer Prevention Research, is the only journal worldwide dedicated exclusively to cancer prevention, from preclinical research to clinical trials. The AACR also publishes CR, a magazine for cancer survivors, patient advocates, their families, physicians, and scientists. CR provides a forum for sharing essential, evidence-based information and perspectives on progress in cancer research, survivorship, and advocacy.

American Association for Cancer Research