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Biomedical subjects

Takachika Ozawa

Publications and source records attributed to Takachika Ozawa.

17 recordsLinked to original sources

Chromosomal numerical abnormality profiles of gastrointestinal stromal tumors.

BACKGROUND: Biological variations in and the heterogeneity of gastrointestinal stromal tumors (GISTs) are well known, but chromosomal numerical abnormality (CNA) has not been fully examined especially in this context. The aim of this study is to test CNA as a possible biological predictor of biological behavior of GISTs. METHOD: We applied microwave-assisted FISH protocol to pathological archives of GIST tumors displaying different clinical features to characterize the CNA profile of these tumors. A panel of 18 centromere enumeration probes (CEP) and 24 bacterial artificial chromosome (BAC) or P1-derived artificial chromosome (PAC) probes containing genes like Aurora kinases (AURKs) and other candidate genes involved in human carcinogenesis were used. CNA profiles, histopathological risk categorization and Ki-67 labeling indexes of 23 primary and/or metastatic GIST tumors of 12 subjects (both primary and metastatic in 7 subjects) were compared between primary GIST with and without metastases, and between metastatic and primary portions in 7 individuals. RESULTS: CNA in the primary sites was more extensive in the GISTs with recurrence and metastasis than in those without, especially as to the loss of chromosome 20 and genomic imbalance of AURKA-containing BAC probe on 20q in the cases with metastasis. The consistent loss of one allele of chromosome 14q was also noted. Interestingly, both primary and metastatic tumors in identical individuals had similar CNA profiles. CONCLUSION: The extent of CNA differed between GISTS with and without recurrence or metastasis; thus, FISH analysis of specimens from the primary sites may predict the biological behavior of this tumor.

Adult↗

CD7/CD19 double-positive T-cell acute lymphoblastic leukemia.

We report a rare case of T-cell acute lymphoblastic leukemia (T-ALL) with an aberrant phenotype. A 52-year-old man was admitted to our hospital because of lymph node (LN) swelling in the bilateral neck. A computed tomographic scan showed LN swelling in the mediastinum and a right pleural effusion. The tumor cells in the neck LN showed positivity for cytoplasmic CD3, CD7, CD19, and CD79a, whereas the tumor cells in the bone marrow (BM) showed positivity for CD10 and CD13 in addition to the former 4 antigens. The chromosomes in the BM were normal. Neither T-cell receptor gamma nor immunoglobulin heavy chain rearrangement was detected in the neck LN. We diagnosed this case as T-ALL with an aberrant phenotype and started the standard chemotherapy for ALL. The response was so effective that complete remission (CR) was easily attained. The patient is now under maintenance therapy in the first CR without hematopoietic cell transplantation.

Antigens, CD19↗

Positron emission tomography with 18F-fluoro-2-deoxyglucose for the detection of recurrent ovarian cancer.

BACKGROUND: Recurrent ovarian cancer is refractory and resistant to treatment in most patients, and no effective treatment for it has been established. Starting a treatment when tumors still consist of micro foci may contribute to improvement of prognosis. Therefore, the early diagnosis of relapse is important. METHODS: Among patients with epithelial ovarian cancer in whom initial treatment achieved remission between April 1998 and December 2003, those patients in whom the cancer-related antigen (CA)125 level was increased during the subsequent follow-up period, or those who showed abnormal computed tomography (CT)/magnetic resonance imaging (MRI) findings despite normal CA125 levels, were examined by 18F-fluoro-2-deoxyglucose - positron emission tomography (FDG-PET). We compared the rates of accurate diagnosis of recurrence achieved using CT/MRI, CA125, and FDG-PET in patients with a definitive diagnosis of relapse. RESULTS: We investigated 29 patients with epithelial ovarian cancer. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of FDG-PET were 84.6% (22/26), 100% (3/3), 100% (22/22), 42.9% (3/7), and 86.2% (25/29), respectively. These values were higher than the corresponding values obtained using CT/MRI or CA125 levels. CONCLUSION: FDG-PET may be very useful for identifying sites of recurrent ovarian cancer, although this procedure had a low NPV because of the high rate of false-negative findings for micro or cystic lesions.

Adult↗

Simultaneous imaging of membrane antigen and the corresponding chromosomal locus in pathology archives.

A new procedure for the simultaneous staining of membranous antigens, such as tyrosine kinase-type cell surface receptor HER2 (c-erbB2), and the corresponding chromosome (chromosome 17 for c-erbB2) in the same cell for use in examining pathology archives is presented. A multistep procedure involving microwave-assisted fluorescence in situ hybridization and immunofluorescence yielded cell images having c-erbB2 on the membrane and genomic signals from the chromosome 17 centromere and the c-erbB2 locus. Furthermore, a combination of microwave-assisted chromogenic in situ hybridization and immunohistochemistry found colorized signals from both chromosome 17 centromere in the nuclei and c-erbB2 on the membranes of individual cells. Quantitative image analysis further confirmed the presence of a significantly stronger c-erbB2 immunoreactivity on cells containing three or more signals from chromosome 17 than from those with less than three signals. It was possible to extend the constellation of cell surface markers and corresponding chromosomes or locus-specific makers to several other genes including CDH1. In this case, the disappearances of CDH1 expression, a CDH1 locus signal, and a centromere enumeration probe (CEP) 16 signal were simultaneously demonstrated in the less-adhesive tumor cells. Thus, it is believed that this procedure might pave the way for exploiting pathology archives for the genotype-phenotype analysis of individual cells.

Antigens, Surface↗

CD5+ diffuse large B-cell lymphoma with c-myc/IgH rearrangement presenting as primary effusion lymphoma.

We report an instructive case of diffuse large B-cell lymphoma presenting as acute heart failure. A 69-year-old human immunodeficiency virus-negative man was admitted to our hospital for general fatigue. A computed tomographic scan of the chest and abdomen showed pericardial effusion, but there was no evidence of tumor masses, lymph node enlargement, or hepatosplenomegaly. During the chemotherapy, increased lactate dehydrogenase and pleural effusion appeared. The tumor cells in the effusion showed positivity for CD5, CD19, CD20, kappa chain, and Bcl-2 and negativity for CD10 and CD23. The chromosomes showed t(8;14)(q24;q32) with c-myc/immunoglobulin (Ig)H rearrangement, and the MIB-1 index was not high (60%). Neither human herpes virus 8 nor Epstein-Barr virus DNA was detected in the cells by polymerase chain reaction. The response to chemotherapy was very poor, and the patient died 4 months after the diagnosis. A spectrum of the symptoms of CD5+ lymphoma encompasses pericardial effusion and also can accompany c-myc/IgH rearrangement.

Aged↗

A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

The MYH gene encodes a DNA glycosylase involved in the excision repair of adenines paired with 8-hydroxyguanines, a major component of oxidative DNA damage, and bi-allelic germline MYH mutations have been reported to predispose individuals to multiple colorectal adenomas and carcinoma. To determine whether the MYH gene is involved in gastric carcinogenesis, we examined blood specimens from 20 Japanese familial gastric cancer (GC) patients for MYH mutations by polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis followed by direct sequencing. Bi-allelic germline MYH mutations were not found in any of the specimens, but in addition to four known variants, a novel splice-site variant, IVS10-2A > G (c.892-2A > G), was found in two patients as its heterozygote. Reverse transcription-PCR analysis revealed that the IVS10-2A > G variant caused the production of an aberrant mRNA transcript encoding a truncated MYH protein. Immunofluorescence analysis showed that the wild-type MYH protein, but not the variant-type, is localized in the nucleus. We then searched for the IVS10-2A > G variant in 128 digestive tract cancer patients by PCR with confronting two-pair primers, and eight cancers from six patients with the IVS10-2A/G genotype were identified. However, no other germline MYH mutations or inactivation of the remaining wild-type allele was detected. We next tested the presumed correlation of the IVS10-2G allele with GC risk in a case-control study of 148 GC cases and 292 controls, but no significant difference in the distribution of the IVS10-2A > G variant was found between the cases and controls. Interestingly, the homozygote for the IVS10-2G allele was found in one GC case, but not in any controls. These results suggested that the ability to repair 8-hydroxyguanine in nuclear DNA may differ among Japanese individuals due to the splicing abnormality based on the MYH IVS10-2A > G variant, and that the bi-allelic IVS10-2A > G variation may be responsible for the occurrence of GC.

Adult↗

Cystic hamartoma of the renal pelvis.

Cystic hamartoma of the renal pelvis is a rare benign tumor in the same category as mixed epithelial and stromal tumors. We present a 33-year-old woman with a solid and cystic intrarenal tumor extending into the renal pelvis. She underwent radical nephrectomy and ureterectomy under the diagnosis of renal tumor or renal pelvic tumor. Histopathologically, the tumor was composed of a biphasic proliferation of epithelial and mesenchymal elements. We believe the present case is best classified as a cystic hamartoma of the renal pelvis in the category of mixed epithelial and stromal tumors because of the coexistence of hamartomatous lesions, such as the proliferation of adipose cells and well to poorly differentiated fibromuscular lesions.

Adult↗

Gastric outlet obstruction caused by a heterotopic pancreas in a pregnant woman: report of a case.

A 26-year-old Japanese woman who was 23 weeks pregnant presented with nausea, vomiting, and abdominal pain. Gastroduodenal endoscopic examination revealed an oval-shaped submucosal tumor obstructing the gastric outlet at the prepyloric area in the stomach. Magnetic resonance imaging showed a 5-cm cystic tumor and we suspected a degenerated gastrointestinal stromal tumor. No other radiological tests were done because of the associated risks to the fetus. Distal gastrectomy was performed and a histological diagnosis of heterotopic pancreas was confirmed. The patient had an uneventful postoperative course and was discharged 19 days after her operation. She delivered a healthy, full-term male infant 3 months later. This case of an ectopic pancreas obstructing the gastric outlet in a pregnant woman is reported and discussed due to its rarity.

Adult↗

Extrahepatic biliary schwannoma.

Schwannoma (neurilemoma or neurinoma) rarely develops in the biliary tract. We report here a case of extrahepatic biliary schwannoma found in a 47-yr-old Japanese woman presenting with obstructive jaundice. The radiological imaging studies were suggestive of nonepithelial tumor involving the common bile duct. The patient underwent tumor resection. The tumor extended inward and outward from the wall of the common bile duct in the shape of a dumbbell. The extraductal tumor was solid with microcystic changes, while the intraductal lesion presented cystic changes. Microscopically, the tumor was predominantly composed of spindle-shaped cells with nuclear palisading, and it contained lymphoid aggregates. Immunohistochemically, the tumor cells were positive for S-100 protein. The final diagnosis was benign schwannoma of the common bile duct. The tumor differed from usual soft tissue schwannoma and closely resembled gastrointestinal schwannoma.

Bile Duct Neoplasms↗

Pancreatic tuberculosis.

A 63-year-old Japanese man visited our institute with fever of unknown origin. Findings on preoperative imaging modalities were consistent with pancreatic carcinoma, but a positive tuberculin skin test indicated tuberculosis infection. Negative results for MycobacteriumDNA polymerase chain reaction from sputum and bone-marrow aspiration biopsy specimens ruled out pulmonary and miliary tuberculosis, respectively. Positron emission tomography (PET) with 2-[fluorine-18]-fluoro-2-deoxy- d-glucose (FDG) showed multiple labeled spots within the pancreas body and chest. Distal pancreatectomy was performed with a diagnosis of suspected pancreatic carcinoma, but the histological and microbiological diagnosis was Mycobacterium infection. A rare case of pancreatic tuberculosis evaluated by FDG PET is reported and discussed herein.

Diagnosis, Differential↗

Solitary splenic metastasis from gastric cancer: report of a case.

We report a rare case of metachronous and solitary metastasis to the spleen from gastric cancer. A 69-year-old man who had undergone a distal gastrectomy for gastric cancer 48 months earlier was found to have a solitary lesion in the spleen, and an increased serum carcinoembryonic antigen (CEA) level. The patient underwent a laparotomy for suspected metastasis to the spleen. At laparotomy, a tumor was found in the upper pole of the spleen without involvement of other organs, and a splenectomy was performed. Histological examination confirmed that the splenic tumor was a well-differentiated adenocarcinoma similar to the primary gastric cancer. The postoperative course was uneventful and his serum CEA decreased to within normal levels. The patient died of multiple metastases to the liver and peritoneal dissemination 40 months after the splenectomy.

Adenocarcinoma↗

An acquired giant vascular tumour of the breast.

We present a rare case of an acquired giant vascular tumour of the breast that was diagnosed as angiomatosis. It was characterised by the mixture of blood-filled haemangiomatous, and apparently empty lymphangiomatous, vascular channels. The breast remnant returned to a normal configuration and contour without breast reduction.

Adult↗

Successful surgical treatment for metachronous advanced cancers of the gallbladder and the common bile duct--case report.

A 73-year-old woman with a tentative diagnosis of gallbladder cancer had undergone cholecystectomy with liver resection and dissection of regional lymph nodes. Pathological examination of the resected specimen revealed well-differentiated papillary adenocarcinoma of the gallbladder with subserosal invasion. No evidence of metastasis was noted in the dissected lymph nodes. After surgery, she had been disease free in the follow-up study. Ten years after surgery, however, carcinoma arising from the common bile duct was newly found, and pancreaticoduodenectomy with regional lymph nodes dissection was performed. Histological examination confirmed well-differentiated adenocarcinoma of the common bile duct. Lymph nodes had no evidence of malignancy. The patient has been doing well with no evidence of recurrence 20 and 10 years after each operation, respectively. Apparently, these two cancers occurred independently and each surgical treatment for this patient was successful.

Aged↗