This report describes a 30-year-old man with a testicular germ cell tumor, which later developed into acute myeloid leukemia (AML) with a common chromosomal abnormality. Testicular germ cell tumors had developed at the age of 26. He was successfully treated with surgery followed by chemotherapy.Four years after the onset of the germ cell tumor, he developed pancytopenia with elevated serum LDH. More than 95% of the bone marrow was occupied by blastic cells. These cells were CD13+, CD34+ but CD45- and MPO-. Amplification of the short arm of chromosome 12 was recognized by fluorescence in situ hybridization using the blastic cells in the bone marrow and the previous testicular tumor specimen. Because testicular germ cell tumor recurrence and other malignant tumors could be ruled out pathologically, he was diagnosed as having AML.Allogeneic stem cell transplantation from a HLA-matched sibling donor was performed after chemotherapy. As of 19 months after the transplantation, recurrence of neither AML nor testicular tumors has been observed. Because the same genetic abnormality was observed in the testicular germ cell tumor and AML in this case, the possibility of AML having a common origin with the testicular germ cell tumor is indicated.

A 83-year-old woman was referred to our hospital due to an abnormal shadow in the right lower lung field and pleural effusion on chest X-ray. Cytology of the pleural fluid showed adenocarcinoma. EGFR sequencing showed exon19 and T790M mutations. Gefitinib was prescribed as first-line treatment for stage IV(pulmonary metastasis)lung adenocarcinoma from March 2011. The response to the treatment was improved pleural effusion and shrunken tumors. She showed recurrence 13 months after administration of gefitinib. Erlotinib was given as second-line treatment from May 2012. She showed good response with shrinkage of the pulmonary metastases, and was alive with no sign of recurrence for 3 months after administration of erlotinib.

Esophageal squamous cell carcinoma accounts for most esophageal cancers in East Asia. Esophageal adenocarcinoma arises from Barrett's esophagus. However, patients with advanced disease remain poor prognosis. Therefore, it is needed to clarify the carcinogenic mechanism and cancer metastatic process in esophageal cancer. Here, we described the recent research approaches of microarray and next generation sequence in esophageal squamous cell carcinoma and esophageal adenocarcinoma.

Although H. pylori causes both gastric cancer and peptic ulcer, duodenal ulcer patients were known to have low risk for gastric cancer. Recently the association of PSCA and ABO with duodenal ulcer were identified by GWAS in the Japanese population. A T-allele of SNP rs2294008 in the PSCA promoter creates the upstream translational initiation codon and affects the protein localization from cytoplasm to cell surface. A T-allele of SNP rs2294008 increased gastric cancer risk but reduced duodenal ulcer risk. In addition, blood type O was shown to increase risk for duodenal ulcer, while blood type A was associated with gastric cancer risk in the Caucasian population. Our finding would partially explain low risk of gastric cancer among duodenal ulcer patients.

Helicobacter pylori, a major stomach pathogen associated with gastritis, gastric/duodenal ulcer, gastric cancer and other diseases, shows extreme diversity at the genome sequence level. It is now possible to sequence whole genomes of Japanese isolates at a reasonable cost. Here I summarize what has been learned from analyzing whole H. pylori genomes. Emphasis is placed on features of East Asian strains, genome dynamics and epigenetics. I cover both long-term evolution with us Homo sapiens and short-term evolution within our bodies. I hope this guide will be helpful for decoding and analyzing H. pylori genomes of clinical isolates, especially those from Japan and other East Asian countries.