Questions around mutation T1010I in MET gene: results of next generation sequencing in Polish patient with suspected hereditary adenoid cystic carcinoma

A. Grenda, P. Krawczyk, I. Chmielewska, M. Nicoś, J. Milanowski

Chair and Department of Pneumology, Oncology and Allergology, Medical University of Lublin, Lublin, Poland. an.grenda@gmail.com

---

• Oncology

OBJECTIVE: Adenoid cystic carcinoma (ACC) is a slowly growing cancer, which is the most common malignant tumor of the salivary glands. It is claimed that it is a non-inherited cancer. People with family history of ACC are reported extremely rarely. We present patients with suspected hereditary ACC.

MATERIALS AND METHODS: Next generation sequencing (NGS) was performed for both RNA and DNA isolated from FFPE material.

RESULTS: In DNA from tumor tissue we detected the mutation in MET gene, in exon 14 c.3029C>T (p.Thr1010Ile). It has never been proven that this mutation may play a role in the pathogenesis of ACC. The most important for our case report seems to be the patient’s family history of cancer occurrence which indicates presence of familial cancer aggregation (familial cancer syndrome) and even familial lung cancer.

CONCLUSIONS: ACC is extremely rare; it is difficult to observe a specific genetic pattern and NGS can provide a lot of information about the genetic causes of this disease. Our work shows that the MET p.Thr1010Ile mutation can be associated with the hereditary occurrence of ACC.

Free PDF Download