We experienced two cases of pancreatic cancer patients with pathogenic variants in the BRCA2 gene, which is a causative gene for hereditary breast and ovarian cancer (HBOC). Case 1 was a woman in her 40s who underwent surgery for pancreatic head cancer with no recurrence after 5 years. Her family history included four maternal relatives with pancreatic cancer. One of which was found at another hospital to have a pathogenic variant in the BRCA2 gene. With the patient's consent, we conducted a BRCA genetic test and detected a pathogenic variant in BRCA2. Case 2 was a woman in her 60s with a history of gastric cancer in her 40s and breast cancer in her 50s. She underwent surgery for pancreatic head cancer, and there was no apparent recurrence after 3 years. Considering her history of breast cancer, we suggested the possibility of HBOC and performed a BRCA genetic test, which revealed a pathogenic variant in BRCA2. Currently, BRCA genetic testing for pancreatic cancer patients is only covered by insurance as a companion diagnostic procedure. Even if the patient or their relatives have HBOC-related cancers, BRCA genetic testing is not covered by insurance. In the future, it is desirable to establish appropriate measures for the HBOC management, including BRCA genetic testing in pancreatic cancer patients.
A 72-year-old man was referred to our institute with a chief complaint of left inguinal bulge. The bulge was observed in the left groin region in the standing position, and disappeared spontaneously in the supine position. Though an inguinal hernia was highly suspected, residual testicular swelling was atypical for the disease. An additional contrast-enhanced CT scan revealed pancreatic adenocarcinoma with retroperitoneal invasion, and para-aortic lymph node metastases. The tumor had invaded a left renal vein, causing a dilation of a left spermatic vein and the varicocele testis.
The patient was diagnosed with advanced pancreatic cancer and received gemcitabine and nab-paclitaxel as a 1st line chemotherapy and irinotecan as a 2nd line treatment. The patient is now alive 12 months after diagnosis.
There have been very few cases of pancreatic cancer detection due to suspected inguinal hernia. Among the cases, only two cases of varicocele testis from renal vein invasion of pancreatic cancer have been reported including this case. Here, we report a very rare case with a literature review.
A 90-year-old woman presented with swelling of the pancreas on plain computed tomography (CT). Contrast-enhanced CT and magnetic resonance imaging (MRI) revealed an irregularly-attenuated mass at the ventral side of the pancreatic head-to-body transition. Swelling of the body and tail of the gland was also noted with a "sausage-like appearance" and homogenous delayed enhancement, skipped narrowing of the main pancreatic duct with "icicle sign", and diffuse swelling of the branch ducts. The serum IgG4 level was 757mg/dl. Upper gastrointestinal endoscopy revealed swelling of the duodenal papilla and multiple fish-egg-like protrusions at the fistula orifice filled with mucin in the duodenal bulb formed by the pancreatic tumor. Biopsy specimens from the papilla showed abundant IgG4-positive plasma cell infiltration, and tissues from the fistula orifice revealed papillary growth of high-grade atypical columnar epitheliums suggesting intraductal papillary mucinous neoplasm (IPMN) with high-grade dysplasia and highly-atypical tubular glands scattered in the stroma with marked infiltration of IgG4-positive cells. Accordingly, a diagnosis of intraductal papillary-mucinous carcinoma (IPMC) invasion was made, and coexisting autoimmune pancreatitis (AIP) was strongly suspected. To our knowledge, invasive IPMC with AIP has not been reported. We report this case and discuss the relationships between AIP and pancreatic cancer or IPMN.
A 71-year-old woman presented with pointed pancreatic swelling on abdominal ultrasonography. On further examination revealed elevated CA19-9. Moreover, computed tomography, magnetic resonance cholangiopancreatography, and endoscopic ultrasound scans revealed a 15cm long intraductal tumor spreading through almost the entire pancreas with significant main pancreatic duct dilation of 25mm. Notably, the results of both biopsy of the exposed papillary tumor from the Vater papilla and cytology of pancreatic juice indicated adenocarcinoma, with no lymphatic and distant metastases; thus, a total pancreatectomy was performed. Furthermore, histological examination of the patient revealed a tumor comprising atypical epithelium arranged in a complex papillary architecture with minimal pancreatic parenchymal invasion. On immunohistochemistry, tumor cells were diffuse positive for MUC1 and MUC5AC, partially positive for MUC6, and negative for MUC2. These findings indicated the diagnosis of pancreatobiliary-type intraductal papillary mucinous carcinoma. Briefly, this case report presents a case of pancreatobiliary-type intraductal papillary mucinous carcinoma of the entire pancreas with minimal invasion presenting significant dilation of the main pancreatic duct.