Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is an autosomal dominant inherited disease clinically characterized by gastric cancer and fundic gland polyposis (FGPsis). Germline variants of the APC promotor 1B have been reported as pathogenic variants in GAPPS families. Most GAPPS families have been reported in Western countries; however, only a few GAPPS families have been reported from Japan. Appropriate surveillance including gastrointestinal endoscopy and indication of surgical gastrectomy for GAPPS patients have not been established because of the lack of knowledge of GAPPS and the high positivity rate for Helicobacter pylori infection in Japan. A large-scale investigation of clinicopathological characteristics and pathology is required to establish of a surveillance and treatment strategy for GAPPS.
Appropriate surveillance and risk-reducing surgery based on genetic testing may lead to early diagnosis and the prevention of HBOC. In Japan, the current situation regarding genetic testing or appropriate treatment based on genetic testing for family members of patients with BRCA1/2 pathogenic mutations is not clear. The purpose of this study was to investigate genetic testing rates and background characteristics of examinees in Japanese pedigrees with BRCA1/2 mutations. We statistically analyzed records from the Japanese HBOC consortium. Seventy-five of 180 pedigrees (131 people) with BRCA1/2 mutations underwent genetic testing. The examinees were mostly female, and often belonged to pedigrees having a strong family history. Based on these results, it is important to disseminate correct knowledge about HBOC to medical workers and the general public.
This study investigated interest and knowledge of genetic counseling and testing for hereditary breast and ovarian cancer syndrome among breast cancer patients in our hospital which is one of the community hospitals without established department of medical genetics.
We performed questionnaire surveys and direct interviews by a clinical nurse specialist in cancer care. The surveys and interviews were administered to 22 breast cancer patients who visited the hospital between March 1 and May 31, 2017 and met the criteria for further genetic risk evaluation in NCCN guidelines (version 2.2016). Although 21(95%) and 18(82%) patients knew the words of “hereditary breast cancer” and “genetic test” respectively, only 7(32%) knew “genetic counseling”. Both the questionnaire and direct interview revealed that patients who had strong interest in hereditary breast cancer did not always wish to receive genetic testing. Nineteen(86%) patients answered that a high cost could be a reason to hesitate to undergo genetic testing in the questionnaire surveys, as confirmed by the direct interviews. In conclusion, even community hospitals urgently need to establish a system for patients’ accessing to the correct information on hereditary cancer and genetic counseling.
A 56-year-old male was admitted for surgery for transverse colon cancer. The patient had no paternal family history because his father died in an accident in his 40s. The patient underwent right hemi-colectomy. The histological diagnosis was moderately differentiated tubular adenocarcinoma （tub2>por1）, pT2pN0cM0 pStage I （Japanese Classification of Colorectal Carcinoma, 8th edition）. Microsatellite instability （MSI） test demonstrated the tumor to be MSI-High. Genetic testing revealed a pathogenic mutation in MSH6 and Lynch syndrome was diagnosed. Although the patient did not meet the Amsterdam Criteria II or the revised Bethesda guidelines, universal screening by MSI test led to the diagnosis of Lynch syndrome. Universal screening is useful to identify potential Lynch syndrome patients.
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder caused by germline variants in the NF1 tumor suppressor gene characterized by multiple caféau lait spots and cutaneous neurofibromas. Therefore, NF1 predisposes patients to benign and malignant tumor development. We report a 54-year-old NF1 male with multiple gastrointestinal stromal tumors (GIST) in the small intestine. We resected a part of the small intestine with larger tumors, but left the part with small tumors to avoid short bowel syndrome. Histological examination revealed spindle cells with eosinophilic cytoplasm. The tumors were positive for KIT on immunopathological examination. They were smaller than 3.5 cm and their mitotic activity was less than 5/50 in high-power fields. We left 17 GIST that were smaller than 10 mm, but no progression has been detected to date. (<250 words)