Synchronous Pancreatic Ductal Adenocarcinoma and Nasopharyngeal Carcinoma With Associated Novel Pathogenic ATM Mutation.

BACKGROUND/AIM: Patients with synchronous pancreatic ductal adenocarcinoma (PDAC) and nasopharyngeal carcinoma (NPC) have not been previously reported in the English literature. We present such a unique case with both PDAC and NPC.

CASE REPORT

A 72-year-old Asian-American female with a past medical history of primary biliary cholangitis presented with abdominal pain. Initial computer tomography (CT) scans demonstrated a 13 cm solid and cystic mass in the pancreatic body and tail with no mass identified in her liver. A biopsy of the pancreatic mass revealed pancreatic duct adenocarcinoma. Further evaluation with a positron emission tomography (PET) scan revealed a hypermetabolic mass (SUVmax10) in the nasopharynx. Subsequent biopsy results were consistent with nasopharyngeal carcinoma. Genetic counseling and next-generation sequencing (NGS) on her peripheral blood DNA were performed, identifying a pathogenic mutation of ATM c.8545C>T (p.Arg2849*). The patient was treated with gemcitabine-abraxane chemotherapy and FOLFIRINOX (fluorouracil, oxaliplatin, leucovorin and irinotecan) for her PDAC, while radiation therapy was proposed for her NPC. Ultimately, due to the progression of the malignancies, she entered hospice care and passed eight months after the diagnosis of PDAC.

CONCLUSION

To the best of our knowledge, this is the first documented case of synchronous PDAC and NPC in a patient with novel associated pathogenic ATM c.8545C>T (p.Arg2849*) mutation and poor prognosis. More similar case reports are needed to further characterize this entity.