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Next-Generation Sequencing in Patient Case Finds Novel Fusion Gene in Pleomorphic Adenoma

June 15, 2021

Dr. Shuanzeng (Sam) Wei, investigator on the study and associate professor in the Department of Pathology and medical director of the Clinical Genomics Laboratory at Fox Chase.Dr. Shuanzeng (Sam) Wei, investigator on the study and associate professor in the Department of Pathology and medical director of the Clinical Genomics Laboratory at Fox Chase.

PHILADELPHIA (June 15, 2021) – Researchers at Fox Chase Cancer Center recently used RNA next-generation sequencing of a fine-needle aspiration (FNA) sample to identify a novel fusion gene indicative of pleomorphic adenoma (PA), a common benign salivary gland tumor.

“Diagnosing salivary gland neoplasms is difficult on FNA,” said Shuanzeng (Sam) Wei, MD, PhD, associate professor in the Department of Pathology and medical director of the Clinical Genomics Laboratory at Fox Chase. “Using FNA we are able to get a small amount of tissue from the tumor, but sometimes a definitive diagnosis cannot be achieved.”

Wei conducted the study with Fox Chase co-investigators Jianming Pei, MD; Hormoz Ehya, MD; and Jeffrey Chang-Jen Liu, MD, FACS. Their recently published report details the case of a 71-year-old women with cellular PA initially diagnosed on FNA as a low-grade salivary gland neoplasm.

RNA next-generation sequencing (NGS) was performed on samples gained from FNA. Past research has shown that the presence of PLAG1 or HMGA2 fusion can be used to distinguish PA. In this case, a BOC-PLAG1 fusion gene was present. This fusion gene, combined with cytomorphology, supported the diagnosis of PA and this was confirmed in the surgically removed tumor, Wei said.

“To my knowledge, this is the first reported PA case with this fusion gene,” he added. “We would not have found this without the NGS assay, and no other institutions in this region offer such a comprehensive RNA NGS assay, which covers 507 cancer-related fusion genes.”

The accurate diagnosis of salivary gland neoplasms from small specimens is critical for personalized patient management, he said. “With this fusion identified, we provided the clinicians a clear diagnosis.”

The paper, “BOC-PLAG1, a New Fusion Gene of Pleomorphic Adenoma: Identified in a Fine-Needle Aspirate by RNA Next-Generation Sequencing,” was published in Diagnostic Cytopathology.

Fox Chase Cancer Center (Fox Chase), which includes the Institute for Cancer Research and the American Oncologic Hospital and is a part of Temple Health, is one of the leading comprehensive cancer centers in the United States. Founded in 1904 in Philadelphia as one of the nation’s first cancer hospitals, Fox Chase was also among the first institutions to be designated a National Cancer Institute Comprehensive Cancer Center in 1974. Fox Chase is also one of just 10 members of the Alliance of Dedicated Cancer Centers. Fox Chase researchers have won the highest awards in their fields, including two Nobel Prizes. Fox Chase physicians are also routinely recognized in national rankings, and the Center’s nursing program has received the Magnet recognition for excellence five consecutive times. Today, Fox Chase conducts a broad array of nationally competitive basic, translational, and clinical research, with special programs in cancer prevention, detection, survivorship, and community outreach. It is the policy of Fox Chase Cancer Center that there shall be no exclusion from, or participation in, and no one denied the benefits of, the delivery of quality medical care on the basis of race, ethnicity, religion, sexual orientation, gender, gender identity/expression, disability, age, ancestry, color, national origin, physical ability, level of education, or source of payment.

 

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