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An Autopsy Case of Anaplastic Carcinoma of the Pancreas in a 39-Year-Old Woman that Developed from Hereditary Pancreatitis

Rare disease, Rare co-existance of disease or pathology

Shogo Ota, Gensho Tanke, Satsuki Asai, Ryo Ito, Kazuya Hara, Yutaka Takada, Kanna Adachi, Yukari Shimada, Motohito Hayashi, Toshinao Itani, Misa Ishihara, Atsushi Masamune

Japan Department of Gastroenterology, Kobe City Nishi-Kobe Medical Center, Kobe, Hyogo, Japan

Am J Case Rep 2021; 22:e928993

DOI: 10.12659/AJCR.928993

Available online: 2020-12-30

Published: 2021-02-15


#928993

BACKGROUND: Anaplastic carcinoma of the pancreas (ACP) is a rare type of cancer with an extremely poor prognosis. Hereditary pancreatitis is a rare autosomal-dominant disease. It progresses to chronic pancreatitis at a young age, increasing the risk of pancreatic cancer.
CASE REPORT: A 39-year-old woman was diagnosed with chronic pancreatitis at the age of 18 years. The patient was referred to our hospital for epigastralgia and jaundice. We identified a tumor mass at the head of the pancreas using contrast computed tomography (CT) and endoscopic ultrasound (EUS) of the abdomen. Tissue biopsy revealed ACP of the spindle cell type. We started the patient on combination chemotherapy using gemcitabine and nanoparticle albumin-bound (nab) -paclitaxel, but she died 1 month after her first visit. An autopsy revealed a mixture of tubular adenocarcinoma and anaplastic carcinoma. We performed genetic analysis using DNA samples from the biopsy tissues but did not find mutations in the PRSS1 and SPINK1 genes associated with hereditary pancreatitis.
CONCLUSIONS: The risk of pancreatic cancer generally increases in patients with hereditary pancreatitis after 50 years of age. However, in this case, the development of pancreatic cancer occurred at a younger age, suggesting the importance of early detection in such cases. Furthermore, this case suggests that EUS is a useful method for monitoring patients with hereditary pancreatitis and the diagnosis of ACP.

Keywords: Endoscopic Ultrasound-Guided Fine Needle Aspiration, Genetic Diseases, Inborn, Pancreatic Neoplasms, Pancreatitis, Chronic, Adenocarcinoma, Carcinoma, Pancreatic Ductal



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