Kanezaki R.,Hirosaki University |
Toki T.,Hirosaki University |
Terui K.,Hirosaki University |
Xu G.,Hirosaki University |
And 16 more authors.
Blood | Year: 2010
Twenty percent to 30% of transient abnormal myelopoiesis (TAM) observed in newborns with Down syndrome (DS) develop myeloid leukemia of DS (ML-DS). Most cases of TAM carry somatic GATA1 mutations resulting in the exclusive expression of a truncated protein (GATA1s). However, there are no reports on the expression levels of GATA1s in TAM blasts, and the risk factors for the progression to ML-DS are unidentified. To test whether the spectrum of transcripts derived from the mutant GATA1 genes affects the expression levels, we classi-fied the mutations according to the types of transcripts, and investigated the modalities of expression by in vitro transfection experiments using GATA1 expression constructs harboring mutations. We show here that the mutations affected the amount of mutant protein. Based on our estimates of GATA1s protein expression, the mutations were classified into GATA1s high and low groups. Phenotypic analyses of 66 TAM patients with GATA1 mutations revealed that GATA1s low mutations were significantly associated with a risk of progression to ML-DS (P < .001) and lower white blood cell counts (P = .004). Our study indicates that quantitative differences in mutant protein levels have significant effects on the phenotype of TAM and warrants further investigation in a prospective study. © 2010 by The American Society of Hematology.
Mori F.,Hirosaki University |
Miki Y.,Hirosaki University |
Tanji K.,Hirosaki University |
Ogura E.,Aomori City Hospital |
And 3 more authors.
Neuropathology | Year: 2011
We report an incipient case of intranuclear inclusion body disease (INIBD) in a 78-year-old woman. No apparent neurological symptoms were noticed during the clinical course. Post mortem examination revealed widespread occurrence of eosinophilic intranuclear inclusions in neuronal and glial cells of the central and peripheral nervous systems, as well as in parenchymal cells of the visceral organs. The inclusions were observed more frequently in glial cells than in neuronal cells. Ultrastructurally, the inclusions consisted of granular and filamentous material. Immunohistochemically, the inclusions were positive for ubiquitin, ubiquitin-related proteins (NEDD8 ultimate buster 1, small ubiquitin modifier-1, small ubiquitin modifier-2 and p62), promyelocytic leukemia protein and abnormally expanded polyglutamine. Consistent with previous studies, the vast majority of inclusion-bearing glial cells were astrocytes. Furthermore, p25α-positive oligodendrocytes rarely contained intranuclear inclusions. These findings suggest that INIBD may occur in non-demented elderly individuals and that oligodendrocyte is also involved in the disease process of INIBD. © 2010 Japanese Society of Neuropathology.
PubMed | Aomori City Hospital, Yonezawa City Hospital, Tsuruoka Municipal Shonai Hospital and Hirosaki University
Type: | Journal: Human pathology | Year: 2016
Sertoli-Leydig cell tumors (SLCTs) are representative of androgenic ovarian tumors, and they show diverse histologic differentiation, including heterologous differentiation. Genetically, SLCTs are characterized by the presence of DICER1 mutations. In the present study, we analyzed the correlation between somatic DICER1 hotspot mutations and clinicopathological features in 10 ovarian SLCTs. Six of the 10 (60%) SLCTs harbored a DICER1 hotspot mutation. Five of the 6 DICER1-mutated SLCT patients showed androgenic manifestations, including amenorrhea and hirsutism, and 4 of the 6 were associated with the significant elevation of serum testosterone. In contrast, none of the 4 DICER1 wild-type SLCT patients showed virilization. The patient age at diagnosis was lower in those with DICER1-mutated SLCTs (average: 24.7, range: 17-43) than in those with DICER1 wild-type tumors (average: 64.8, range: 47-77). Histologically, heterologous differentiation was found in 4 SLCTs, all of which were DICER1-mutant. Heterologous components included gastrointestinal-type mucinous epithelium (n=3), carcinoid (n=1) and rhabdomyosarcoma (n=1). In the latter, the rhabdomyosarcomatous component was dominant to the SLCT component. In summary, DICER1 hotspot mutations are closely associated with androgenic effects in ovarian SLCTs. It is suggested that DICER1 mutations are involved in the dysregulation of sex hormone synthesis in SLCT patients. Somatic DICER1 hotspot mutations are more common in SLCT patients during the reproductive years than in those during the post-reproductive years. DICER1 hotspot mutations may support the pathological diagnosis of SLCTs, in the case that the heterologous component overwhelms and masks the SLCT component.
Yanagisawa M.,Hirosaki University |
Kakizaki H.,Hirosaki National Hospital |
Okada K.,Akita University |
Torigoe T.,Juntendo University |
Kusumi T.,Aomori City Hospital
Upsala Journal of Medical Sciences | Year: 2013
Background and purpose. Giant cell tumor of bone (GCT) is sometimes difficult to distinguish from other giant-cell-rich tumors such as chondroblastoma (CHB) and aneurysmal bone cyst (ABC). The usefulness of p63 as a diagnostic marker for GCT is controversial. While there have been no reports about p63 as a prognostic marker for local recurrence, various p63-positive rates in GCT have been reported. The purpose of this study was to investigate retrospectively whether p63 is useful as a diagnostic marker and/or a prognostic marker for local recurrence of GCT. Methods. This study included 36 patients diagnosed with either GCT (n = 16), CHB (n = 9), ABC (n = 7), or non-ossifying fibroma (NOF) (n = 4). p63 immunostaining was performed for all specimens. The mean p63-positive rate was compared with the four diseases and between the recurrent and non-recurrent cases of GCT. Results. Although the mean p63-positive rate for GCT (36.3%) was statistically higher than that of all other diseases examined (CHB: 15.2%; ABC: 5.8%; NOF: 3.4%), p63 was not specific for GCT. The mean p63-positive rate for recurrent GCT cases (73.6%) was statistically higher than that for non-recurrent cases (29.1%). Conclusion. In the diagnosis of GCT, p63 is a useful but not a conclusive marker. However, p63 did appear to indicate the biological aggressiveness of GCT. Therefore, p63 may help surgeons to estimate the risk of recurrence after surgery and help them to choose the best treatment for each GCT case. © 2013 Informa Healthcare.
Tobishima H.,Hirosaki University |
Hatayama T.,Aomori City Hospital |
Ohkuma H.,Hirosaki University
Neurologia Medico-Chirurgica | Year: 2014
Mentalis muscle responses to electrical stimulation of the zygomatic branch of the facial nerve are considered abnormal muscle responses (AMRs) and can be used to monitor the success of decompression in microvascular decompression (MVD) surgery. The aim of this study was to compare the long-term outcome of MVD surgery in which the AMR disappeared to the outcome of surgery in which the AMR persisted. From 2005 to 2009, 131 patients with hemifacial spasm received MVD surgery with intraoperative monitoring of AMR. At 1 week postsurgery, spasms had resolved in 82% of cases in the AMR-disappearance group and 46% of cases in the persistent-AMR group, mild spasms were present in 10% of cases in the AMR-disappearance group and 31% of cases in the persistent-AMR group, and moderate were present spasms in 8% of cases in the AMR-disappearance group and 23% of cases in the persistent-AMR group (P < 0.05). At 1 year postsurgery, spasms had resolved in 92% of cases in the AMR-disappearance group and 84% of cases in the persistent-AMR group, mild spasms were present in 6% of cases in the AMRdisappearance group and 8% of cases in the persistent-AMR group, and moderate spasms were present in 3% of cases in the AMR-disappearance group and 8% of the cases in the persistent-AMR group (P = 0.56). These results indicate that the long-term outcome of MVD surgery in which the AMR persisted was no different to that of MVD surgery in which the AMR disappeared.
Chinda D.,Hirosaki University |
Sasaki Y.,Aomori City Hospital |
Tatsuta T.,Hirosaki University |
Tsushima K.,Hirosaki University |
And 3 more authors.
Internal Medicine | Year: 2015
Objective The number of endoscopic submucosal dissection (ESD) procedures for early gastric cancers among patients 75 years of age or older has been increasing. We herein examined both the outcomes and complications of ESD in elderly patients. Methods We investigated the effects of underlying diseases, lesion characteristics, treatment outcomes and complications during and in the postoperative periods of ESD among elderly patients 75 years of age or older versus non-elderly patients less than 75 years of age. Patients A total of 318 early gastric cancers in consecutive 307 patients, all of whom underwent ESD for gastric cancer, were included in this study. Results The number of patients with hypertension and ischemic heart disease was significantly higher in the elderly group than in the non-elderly group. The proportion of lesions with an absolute indication, extended indication or no indication was not significantly different between the groups. During the ESD procedure, the use of atropine sulfate for bradycardia was significantly more frequent in the elderly group. No significant differences were observed between the groups in terms of the treatment for hypertension, oxygen administration or incidence of perforation. In addition, there were no significant differences with respect to oxygen administration, postoperative bleeding or the occurrence of fever and/or pneumonia after the ESD procedure. Conclusion Although bradycardia was more frequently observed in the elderly patients during ESD in this study, ESD was performed safely and managed appropriately, with infrequent postoperative complications. ESD appears to be effective, even in elderly patients. © 2015 The Japanese Society of Internal Medicine.
PubMed | Aomori City Hospital
Type: | Journal: Interactive cardiovascular and thoracic surgery | Year: 2017
An unusual case of posteromedial papillary muscle (PPM) rupture due to isolated left anterior descending (LAD) artery ischaemia, associated with severe myocardial bridge contraction, is presented. The unusual blood supply to the PPM was associated with its apical origin and apex-forming LAD.
PubMed | Aomori City Hospital, Mito Brain Heart Center, Aomori Prefectural Central Hospital and Jichi Medical University
Type: | Journal: World neurosurgery | Year: 2016
Hemifacial spasm occurs when a blood vessel compresses against an area near the root exit zone of the facial nerve. Developments in diagnostic neuroimaging have allowed three-dimensional (3D) observation of artery and nerve locations, an effective aid for treatment selection. However, an accurate interpretation of the 3D data remains challenging because imaging representations of complex small vessels are drowned out by noise. We used a noise elimination method to analyze artery and nerve locations and to determine their 3D relationship.Fifteen patients treated for hemifacial spasm were included. Images fused from 3 modalities of magnetic resonance imaging, 3D computed tomography, and angiography were used as source images. Using the images, models of the nerve and candidate vessels were created and shown in 3D to observe how the arteries were compressing the nerve and to identify the portions of the offending vessels that were closest to the nerve. These preoperative results were then compared with operative field observations during surgery. 3D models of the unaffected side were created and evaluated as controls.We confirmed that these models were accurate reconstructions of the source images as the tubular nerve and artery cross-sections showed good alignment onto magnetic resonance imaging axial slice images. The preoperative diagnoses of the compression sites and offending arteries all matched intraoperative findings.An accurate identification of the offending arteries and compression sites was possible, and this method is anticipated to offer effective means of preoperative simulation.
PubMed | Aomori City Hospital
Type: Case Reports | Journal: Gan to kagaku ryoho. Cancer & chemotherapy | Year: 2016
A 61-year-old man was admitted to our hospital because of a complaint of blood in stool. He was diagnosed with advanced colon and gastric cancers. Computed tomography (CT) revealed a sigmoid tumor with invasion to the bladder, a metastatic tumor in the lateral segmental branch of the left hepatic lobe, and ascites. He was diagnosed with initially unresectable double cancer. Ileostomy was performed immediately, and he was treated with modified (m) FOLFOX6 regimen (oxaliplatin in combination with infusional 5-fluorouracil/Leucovorin). After 6 courses of the mFOLFOX6 regimen, CT revealed that the primary lesion of the sigmoid colon and liver metastasis had reduced in size, and the ascites had disappeared. Gastroscopy revealed that the gastric cancer had disappeared. Biopsy results were negative. Accordingly, his gastric cancer was diagnosed as treatment effect Grade 3. After 8 courses of mFOLFOX6 therapy, sigmoidectomy, partial resection of the bladder, and partial resection of the liver were performed. Gastric cancer was not resected in accordance with his will. Although 40 months has passed after the radical resection, neither the sigmoid colon cancer nor the gastric cancer recurred.
PubMed | Hirosaki National Hospital, Aomori City Hospital, Kanagawa Cancer Center, Qingdao University and Nihon University
Type: Journal Article | Journal: Pathology, research and practice | Year: 2016
We herein described two cases of adenomyoepithelioma (AME) with carcinoma of the breast. Both of them were Japanese women, and they presented with a mass in their breast. Post-operative specimens revealed encapsulated and well-circumscribed tumors with local invasion, necrosis, cytological atypia, and a high mitotic rate. In immunohistochemistry, coincidentally with the loose adhesion pattern of myoepithelial cells in both cases, the intensities of E-cadherin and beta-catenin were much weaker in myoepithelial than luminal epithelial cells, with almost negative finding of beta-catenin in one case. We first found deletion of CDH1 and polysomy of CEP16 in myoepithelial cells by double color-fluorescence in situ hybridization. The two cases have been followed up for 5-8 years, and both remained free from local recurrence and distant metastases. We also presented an overview of 47 cases of AME with carcinoma in English-language literatures.