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Although gastric juvenile polyposis (GJP) often coexists with gastric cancer, a preoperative accurate diagnosis is still difficult to obtain. A 70-year-old woman was referred for epigastralgia and anemia. Esophagogastroduodenoscopy with a conventional endoscope showed numerous gastric polyps with no cancerous findings. Magnifying endoscopy with narrow-band imaging (M-NBI) showed cancerous findings, and a target biopsy revealed adenocarcinoma. Histopathological findings after endoscopic resection confirmed a diagnosis of juvenile polyposis with intramucosal adenocarcinoma. Genetic analyses revealed a germline pathogenic variant of SMAD4. A target biopsy using M-NBI and endoscopic resection proved useful for confirming the preoperative diagnosis of coexisting cancerous lesions in GJP.

Background: Complete mesocolic excision (CME) with central vascular ligation (CVL) is a well-known concept in colon cancer surgery. However, data on the oncological benefits of CVL are scarce. The objective of this study was to evaluate the prognostic significance of the distribution of lymph node metastases (LND) in patients with stage III colon cancer who underwent CME with CVL., Methods: In total, 446 consecutive patients who underwent curative resection for stage III colon cancer from 2005 to 2011 were analyzed. Patients were classified as having LND1 (metastases in pericolic nodes), LND2 (metastases in intermediate nodes), or LND3 (metastases in main nodes). Survival outcomes were compared among the three groups., Results: LND1, LND2, and LND3 were identified in 299 (67.0 %), 122 (27.4 %), and 25 (5.6 %) patients, respectively. The 5-year overall survival and relapse-free survival (RFS) of all patients were 86.7 and 76.2 %, respectively. The 5-year RFS of patients with LND1, LND2, and LND3 were 82.8, 65.4, and 52.0 %, respectively (p < 0.0001). Multivariate analysis showed that LND2 was an independent prognostic factor for RFS (p = 0.0185), although the significance of LND3 was marginal (p = 0.0621). Among patients with pN1, the 5-year RFS of patients with LND1 and LND2+3 were significantly different (84.4 vs. 71.5 %, respectively, p = 0.0102), and similar tendency was found between patients with pN2-LND1 and pN2-LND2+3 (72.6 vs. 53.1 %, p = 0.0428)., Conclusion: The high 5-year survival rates of patients with stage III colon cancer, even those with LND2 and LND3, would justify CVL as the standard procedure for advanced colon cancer.

We report a male patient with double advanced tumors in the jejunum and descending colon and multiple lung tumors. The intestinal cancers were surgically resected. Immunoprofiling of the specimens revealed a rare phenotype: the jejunal cancer was positive for cytokeratin (CK) 7, partially positive for CK20, and Cdx-2-negative, whereas the colon cancer was CK7(+), CK20(-), and Cdx-2(-). Biopsied lung tumor was diagnosed as tubular adenocarcinoma, and CK7(+)/CK20(+)/Cdx-2(-). Together with clinical information, we deduced that the jejunal adenocarcinoma had presumably metastasized to the lung. Moreover, postoperative oxaliplatin, including chemotherapy, significantly reduced the lung metastases, suggesting that this regimen is a promising treatment option for advanced small bowel adenocarcinoma.

About 60% of familial breast and ovarian cancers in Japan involve germline mutations of the BRCA1 or BRCA2 ( BRCA1/2) genes. These genes contribute to genetic stability and DNA repair and act as tumor suppressor genes. Mutation analysis of the BRCA1/2 genes has improved our understanding of both common mutation patterns in Japanese patients and the clinicopathological features of BRCA1/2-related cancers. BRCA1-related breast cancers are characterized by poor prognosis, a low rate of estrogen receptor positivity, and histological predominance of solid-tubular carcinoma. BRCA1-related ovarian cancers are associated with a high frequency of serous adenocarcinoma and a good outcome. Further large-scale studies are needed to delineate genotype-phenotype relations and penetrance in BRCA1/2-related breast and ovarian cancers in Japan. The development of systems for clinical genetics in Japan, including genetic counseling, has led to the increased use of genetic testing for the clinical management of BRCA1/2-related cancers. Three options are available for carriers of BRCA1/2 mutations: intensive surveillance, chemoprevention, and prophylactic surgery. Studies done in other countries indicate that prophylactic surgery effectively prevents the development of breast and ovarian cancers in carriers of BRCA1/2 mutations. However, prophylactic mastectomy remains controversial in Japan, and now systematic intensive surveillance is generally performed for the prevention of breast cancer in women at high risk. Early detection of ovarian cancer remains challenging, resulting in increased acceptance of the need for prophylactic oophorectomy in women at risk. This review summarizes experimental and clinical findings about familial breast and ovarian cancers, including data on Japanese patients.

In a previous study, of 1,952 patients with lung cancer evaluated, 94 were either MSI-intermediate or -high, but none of the patients had Lynch syndrome.[15] Only three cases of Lynch syndrome associated with lung cancer have been reported.[16]-[18] Here, we report a case of Lynch syndrome-associated lung adenocarcinoma with intramedullary spinal cord metastasis (ISCM) in a patient who exhibited long-lasting shrinkage of his tumor over 20 subsequent treatment-free months after 15 administrations of nivolumab. We observed a nonsmoking, young male patient with suspected Lynch syndrome-associated lung adenocarcinoma diagnosed on the basis of his family history of colorectal cancer and germline genetic testing. The case of Lynch syndrome-associated lung adenocarcinoma demonstrated long-lasting shrinking of the tumor as a result of an immune checkpoint inhibitor, even after discontinuation of the treatment. In summary, we saw a patient with a rare case of Lynch syndrome-associated lung adenocarcinoma that showed a long-lasting response after treatment with nivolumab. [Extracted from the article]