[A case of Cowden disease with a germline mutation in exon5 of PTEN gene diagnosed based on typical esophageal multiple polypoid lesions observed on a medical checkup].

A man in his fifties had a medical checkup. Mucosal papillomatosis in his oral cavity and palmoplantar keratosis were observed. Esophagogastroduodenoscopy revealed multiple polypoid lesions both in the esophagus and stomach. In addition, colonoscopy showed schwannoma in the rectum. He underwent an operation for adenomatous goiter. At first his typical esophageal multiple polypoid lesion was a diagnostic cue to Cowden disease (CD). Other clinical findings convinced us that he was suffering from CD. He was, then, diagnosed as CD according to the criteria of International Cowden Consortium although he had no family medical history suspicious of CD. Interestingly, genetic testing revealed that the patient had a germline mutation in exon5 of PTEN on chromosome 10. It was a point mutation of C to T transition at codon130, resulting in nonsense mutation (CGA→TGA). A close follow-up, especially cancer surveillance, is necessary for him since CD is associated with a high risk of developing malignant disease. It is noted that the typical esophageal features can be a diagnostic cue to CD, as shown in the present case.

The evolution of sex-independent transmission ratio distortion involving multiple allelic interactions at a single locus in rice.

Transmission ratio distortion (TRD) is frequently observed in inter- and intraspecific hybrids of plants, leading to a violation of Mendelian inheritance. Sex-independent TRD (siTRD) was detected in a hybrid between Asian cultivated rice and its wild ancestor. Here we examined how siTRD caused by an allelic interaction at a specific locus arose in Asian rice species. The siTRD is controlled by the S6 locus via a mechanism in which the S6 allele acts as a gamete eliminator, and both the male and female gametes possessing the opposite allele (S6a) are aborted only in heterozygotes (S6/S6a). Fine mapping revealed that the S6 locus is located near the centromere of chromosome 6. Testcross experiments using near-isogenic lines (NILs) carrying either the S6 or S6a alleles revealed that Asian rice strains frequently harbor an additional allele (S6n) the presence of which, in heterozygotic states (S6/S6n and S6a/S6n), does not result in siTRD. A prominent reduction in the nucleotide diversity of S6 or S6a carriers relative to that of S6n carriers was detected in the chromosomal region. These results suggest that the two incompatible alleles (S6 and S6a) arose independently from S6n and established genetically discontinuous relationships between limited constituents of the Asian rice population.

Sequencing and comparative analyses of the genomes of zoysiagrasses.

Zoysiais a warm-season turfgrass, which comprises 11 allotetraploid species (2n= 4x= 40), each possessing different morphological and physiological traits. To characterize the genetic systems of Zoysia plants and to analyse their structural and functional differences in individual species and accessions, we sequenced the genomes of Zoysia species using HiSeq and MiSeq platforms. As a reference sequence of Zoysia species, we generated a high-quality draft sequence of the genome of Z. japonica accession 'Nagirizaki' (334 Mb) in which 59,271 protein-coding genes were predicted. In parallel, draft genome sequences of Z. matrella 'Wakaba' and Z. pacifica 'Zanpa' were also generated for comparative analyses. To investigate the genetic diversity among the Zoysia species, genome sequence reads of three additional accessions, Z. japonica'Kyoto', Z. japonica'Miyagi' and Z. matrella'Chiba Fair Green', were accumulated, and aligned against the reference genome of 'Nagirizaki' along with those from 'Wakaba' and 'Zanpa'. As a result, we detected 7,424,163 single-nucleotide polymorphisms and 852,488 short indels among these species. The information obtained in this study will be valuable for basic studies on zoysiagrass evolution and genetics as well as for the breeding of zoysiagrasses, and is made available in the 'Zoysia Genome Database' at http://zoysia.kazusa.or.jp.

[Successful treatment of 5-FU intraarterial infusion on the third postoperative day for a patient with multiple liver metastases from colon cancer and high risk of liver failure].

A 68-year-old man with multiple liver metastases from stage 4 advanced descending colon cancer who underwent partial resection of the colon and simultaneous catheter insertion into the gastroduodenal artery for arterial infusion chemotherapy. On postoperative day 3, the multiple liver metastases had enlarged so rapidly that there was high risk of liver failure. Intraarterial infusion of 5-FU 600 mg/m2 (1,000 mg/body) for 6 hours weekly and intravenous administration of methylpredonisolone 125 mg were started for emergency chemotherapy on the third postoperative day. Only 1 course was sufficient for the patient be rid of oncologic emergencies and liver failure. After 3 courses, liver metastases showed significant reduction.

[A case of protein-losing gastroenteropathy accompanied by Sjögren syndrome and mixed connective tissue disease].

Case reports of protein-losing gastroenteropathy (PLGE) associated with not only mixed connective tissue disease (MCTD) but also Sjögren syndrome (SjS) are very rare. We report a first case of PLGE in a patient with both MCTD and SjS. A 58-year-old Japanese woman was referred and admitted to our hospital because of abdominal fullness and lower leg edema. Her past medical history revealed SjS at age 40. Physical examination demonstrated lower leg edema and Raynaud's phenomenon. Blood chemistry data showed severe hypoproteinemia. Anti RNP antibody was positive. MCTD was diagnosed. The alpha-1 antitrypsin clearance level was high. The (99m)Tc-DTPA human serum albumin scintigraphy demonstrated abnormal accumulation in the intestine. PLGE associated with both MCTD and SjS was diagnosed, but she was successfully treated by prednisolone.