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  • Hereditary syndromes with increased risk for

    2019-05-13

    Hereditary syndromes with increased risk for gastric cancer include: 1) hereditary diffuse gastric cancer, 2) Lynch syndrome/hereditary non-polyposis colorectal cancer, 3) juvenile polyposis syndrome, 4) Peutz-Jeghers syndrome and 5) familial adenomatous polyposis. Hereditary diffuse gastric cancer (HDGC) is an autosomal azilsartan medoxomil syndrome characterized by the development of diffuse (signet ring cell) gastric cancers at a young age. Mutation of the CDH1 gene (the gene encoding the cell adhesion molecular E-cadherin) mutation noted in 30–50% of gastric cancer patients. The lifetime cumulative risk in CDH1 mutation carriers to develop gastric cancer is estimated at 67% for men and 83% for women by the age of 80 years, and the risk of developing lobular breast cancer in women is up to 60% by age 80. According to the NCCN guidelines, cases meeting any the following criteria should undergo further risk assessment and genetic evaluation: a) a known mutation in a gastric cancer susceptibility gene within the family, b) early-age-onset gastric cancer (<50 years of age), c) a diffuse gastric cancer occurring before age 40 years, d) personal or family history of diffuse gastric cancer and lobular gastric cancer, one diagnosed before age 50 years, e) two gastric cancer cases in family, one individual under age 50 years with confirmed diffuse gastric cancer, and f) three confirmed diffuse gastric cancer cases in first and second degree relatives independent of age.
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    Introduction When carcinoma of the ampulla of Vater is diagnosed, it is generally recognized to be a rarely occurring tumor. The overall incidence rate of the ampulla of Vater cancer was around 0.49 per 100,000 individuals in the United States, and represents only 0.2–0.5% of all gastrointestinal malignancies. Cutaneous metastasis from internal malignancy is also uncommon, and estimated to represent around 0.7%–9% of all patients with internal cancers. Lookingbill et al found that only 367 (5%) of 7316 oncology patients developed cutaneous metastasis in the tumor registry as noted in the Milton S. Hershey Medical Center (Hershey, PA, USA). Of that final 367 patients, 59 (0.8%) had skin involvement as their first sign of undiagnosed cancer. Breast cancer was the most commonly reported primary cancer involving skin (64.6%). Rosen and Schwartz describe neoplasm of the breast, colon, kidney, lung and ovary relatively likely to have cutaneous metastasis. Abdomen and chest were the most reported sites of skin metastasis. In a Taiwanese report, Hu et al found 124 cases (1.02%) with cutaneous metastases from 12,146 patients with internal malignancies at Kaohsiung Medical University Hospital (Kaohsiung, Taiwan). The rate of skin metastasis was highest in patient with breast cancer (2.42%), followed by cancer of the lung (1.78%), oral mucosa (1.75%), colorectum (0.81%), stomach (0.80%) and esophagus (0.74%). Compared to Caucasians, the overall rate of cutaneous metastasis appears to be lower in Taiwanese patient. Here, we have presented a case of progressive ampullary cancer with cutaneous metastasis. Generally, pancreaticoduodenectomy (Whipple procedure) is the standard treatment for ampullary and periampullary adenocarcinoma. If metastatic disease is noted, chemotherapy schemes generally recommended for pancreatic cancer or intestinal malignancy may be considered according to the histological type.
    Case report In February 2012, a 55-year-old man without previous systemic disease suffered from abdominal pain radiating to the back, and yellowish skin color. Ampulla of Vater cancer, cT2N1M1, cstage IV, with local and left neck lymph node metastasis were formally diagnosed by esophagogastroduodenoscopic biopsy, magnetic resonance cholangiopancreatography (MRCP) and positron emission tomography and computerized tomography (PET/CT) (Fig. 1A–C). Plastic and metallic biliary stents were placed for obstructive jaundice. Due to the patient\'s metastatic disease, chemotherapy with high-dose fluorouracil was started. However, severe vomiting was noted after the first chemotherapy treatment. Therefore, the chemotherapy regimen was shifted to gemcitabine plus oxaliplatin. The patient\'s disease was deemed stabilized after 6 cycles of therapy, and he received uracil/tegafur (UFUR) as maintenance therapy.