We retrospectively investigated 14 Japanese patients with Peutz-Jeghers (PJ) syndrome who were treated in six hospitals to determine the prevalence of cancer in Japanese patients with PJ syndrome. The study included seven males and seven females. The mean age at the time of diagnosis of PJ syndrome was 28.1 years (range 2-60 years). Hamartomatous polyps were observed in 13 (92.9%) patients, mucocutaneous pigmentation in 11 (78.6%), and positive family history in six patients (42.9%). The mean observation period after the diagnosis of PJ syndrome was 10.1 years (range 0-34 years). Although one patient died of cancer of unknown primary origin, the remaining 13 patients included in the study completed their last follow-up at each hospital. Cancers were detected in six patients (42.9%), including cancer of the uterine cervix (N=3), breast cancer (N=1), duodenal cancer (N=1), transverse colon cancer (N=1), and cancer of unknown primary origin (N=1). One patient presented with both cervical cancer and breast cancer. No patient presented with pancreatic cancer. This study highlights that patients with PJ syndrome are at high risk for intestinal and extra-intestinal cancers, such as uterine and breast cancer. Routine surveillance for intestinal and extra-intestinal malignancies is warranted in patients with PJ syndrome.
This case involves a 73-year-old man who visited a clinic because he was experiencing dyspnea on exertion and acid reflux. He was diagnosed with anemia and referred for a medical check-up and treatment by his primary care physician. Iron deficiency anemia and prolonged prothrombin time were confirmed with a blood test and an abdominal enhanced CT revealed marked expansion of the afferent loop after a gastrectomy. The medical check-up revealed abnormal blood coagulation due to afferent loop obstruction, which resulted in vitamin K deficiency. He was supplemented with vitamin K, and surgery was performed for the afferent loop obstruction. Postoperatively, his anemia, nutritional status, serum vitamin K levels, and prothrombin time improved steadily. In conclusion, nutrient malabsorption may occur in cases of afferent loop obstruction and abnormal blood coagulation due to vitamin K deficiency.
A 77-year-old Japanese man with a gastrointestinal stromal tumor (GIST) had undergone a duodenectomy 11 years prior. At that time, he had an incidentally detected left renal cell carcinoma, for which he underwent a nephrectomy and was followed-up at our institution. Twenty-four months after the nephrectomy, a 13-mm low-density mass was found on abdominal computed tomography (CT). Contrast-enhanced ultrasonography indicated an irregular hyperenhancement in the vascular phase and a defect on the post-vascular image. A tumor biopsy for differential diagnosis revealed that the tumor was a GIST. Since positron emission tomography-CT and capsule endoscopy revealed no evidence of a primary lesion, we performed a partial hepatectomy without adjuvant treatment. Microscopic examination revealed that the tumor consisted of uniform spindle cells with a fascicular growth pattern. Immunohistochemical examination revealed c-kit and CD34 expressions, similar to those found in the resected duodenal GIST specimen 11 years prior. We diagnosed metastatic liver tumor from the duodenal GIST resected 11 years prior. The patient remains alive without disease recurrence 24 months after the hepatectomy. Long-term surveillance is required after resection of a high-risk primary GIST.
Anaplastic pancreatic carcinoma is a rare form of pancreatic cancer with an extremely poor prognosis. Its diagnosis is often based on surgical specimens and few reports have described the use of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for diagnosis. In this study, we examined six patients (mean age, 70.5 years;sex ratio, 1:1) who were diagnosed with anaplastic pancreatic carcinoma using EUS-FNA. The carcinomas were located in the pancreatic head, body, and tail in one, three, and two patients, respectively. The mean tumor diameter was 49.2mm. Five patients opted for best supportive care due to poor performance status and one underwent chemotherapy (GEM+nab-PTX). The median survival was 40.5 (14-98) days. The characteristic imaging findings of anaplastic pancreatic carcinoma, including central necrosis, marginal contrast enhancement, cystic findings, and internal calcification, were frequently observed in the patients. Anaplastic pancreatic carcinoma can also be diagnosed using biopsy tissue;however, a pathologist's consultation is required to differentiate the disease based on imaging findings for an accurate diagnosis.