Abstract:
:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a rare genetic disorder characterized by cutaneous and uterine leiomyomatosis with RCC. This disorder is caused by a germline mutation in the fumarate hydratase (FH) gene, which encodes an important enzyme of the tricarboxylic acid (TCA) cycle. This mutation distinguishes HLRCC from sporadic RCCs. Herein, we investigated a case of HLRCC in a 32-year-old man who underwent nephrectomy for treatment of a solid-cystic tumor in the left kidney. Histopathology demonstrated a variegated architecture of papillary, tubulocystic and cribriform patterns composed of high-grade tumor cells with enlarged nuclei and eosinophilic nucleoli. Immunostaining and western blotting revealed no FH expression in the tumor. Genomic DNA sequencing identified a heterozygous mutation involving deletion of the 3' end of exon 2 and intron 2 of the FH gene (c.251_267+7delTGACAGAACGCATGCCAGTAAGTG), and RT-PCR confirmed exon 2 skipping in FH mRNA. The somatic FH gene status of the tumor showed only the mutated allele, indicating loss of heterozygosity as the "second hit" of tumor suppressor gene inactivation. These data support that an FH mutation involving the splice site causes exon skipping, changing the conformation of the protein and accelerating carcinogenic cascades under impaired FH functioning in the TCA cycle.
journal_name
Pathol Intjournal_title
Pathology internationalauthors
Matsumoto K,Udaka N,Hasumi H,Nakaigawa N,Nagashima Y,Tanaka R,Kato I,Yao M,Furuya Mdoi
10.1111/pin.12684subject
Has Abstractpub_date
2018-05-24 00:00:00eissn
1320-5463issn
1440-1827pub_type
杂志文章abstract::Homozygous deletion of 9p21, the locus harboring the p16 gene, has been reported as one of the most common genetic alterations in malignant mesotheliomas (MMs). Previous studies showed that this alteration might be useful for differentiating benign from malignant mesothelial tumors in cytology and surgical specimens. ...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2010.02534.x
更新日期:2010-05-01 00:00:00
abstract::The localization of endothelin (ET)-1/big ET-1, ET-3/big ET-3, ET-A and ET-B receptor was immunohistochemically examined in human adrenal glands composed of 36 normal cases, nine hyperplasia, 70 adenomas and seven carcinomas of cortical cells. In normal adrenals, ET-1/big ET-1 and ET-B receptor were regularly detected...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.1997.tb03730.x
更新日期:1997-02-01 00:00:00
abstract::The effects of traditional Chinese medicine (Sairei-to) on experimental glomerulonephritis induced in rats by monoclonal antibody (mAb) 1-22-3 injection was examined. The level of proteinuria in the Sairei-to-treated group was significantly lower than that in the PBS treated group. This suppressive effect was caused b...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.1997.tb04520.x
更新日期:1997-07-01 00:00:00
abstract::Alterations in cell surface carbohydrates on human lymphoma cell lines with different spontaneous metastatic potential in the severe combined immunodeficiency (SCID) mouse model were analyzed. A difference in cell surface carbohydrates between high- (HBL-2, HBL-7 and HBL-8) and no- or low-(HBL-4, HBL-6, Daudi and Raji...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.1996.tb03577.x
更新日期:1996-12-01 00:00:00
abstract::An extremely rare case of unilateral gonadoblastoma with mixed germ cell tumor arising in the ovary of a 27-year-old woman with 46,XX karyotype and two successful pregnancies is reported. The mixed germ cell tumor was composed of choriocarcinoma, embryonal carcinoma, yolk sac tumor, immature teratoma and dysgerminoma....
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2000.01041.x
更新日期:2000-04-01 00:00:00
abstract::Pulmonary tumor thrombotic microangiopathy (PTTM) is a rare clinicopathological entity causing severe pulmonary hypertension. Its histological features include widespread tumor emboli along with fibrocellular intimal proliferation and thrombus formation in the small arteries and arterioles of the lungs. The result is ...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2005.01783.x
更新日期:2005-01-01 00:00:00
abstract::Differentiation of malignant pleural mesothelioma (MPM) from benign mesothelial proliferation remains problematic. Loss of nuclear staining of BRCA1-associated protein 1 (BAP1; detected using immunohistochemistry (IHC)) and homozygous deletion (HD) of p16 (detected using fluorescence in situ hybridization (FISH)) are ...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12453
更新日期:2016-10-01 00:00:00
abstract::Sarcomatoid carcinoma of the pancreas is an uncommon neoplasm. The immunohistochemical characteristics of this unique type of pancreatic tumor were studied. Histologically, there was diffuse proliferation of atypical spindle cells that had hyperchromatic, short, spindle-shaped nuclei and pale cytoplasm. A few tiny foc...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.1999.00877.x
更新日期:1999-05-01 00:00:00
abstract::Epstein-Barr virus (EBV)-associated gastric carcinoma (EBVGC) is defined as a neoplasm comprising monoclonal proliferation of EBV-infected gastric epithelial cells. Although the typical histology is gastric carcinoma with lymphoid stroma (GCLS), the histologic features of the tumor vary. We report herein the case of a...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12613
更新日期:2018-01-01 00:00:00
abstract::The diagnosis of the rare neoplasm histiocytic sarcoma (HS) relies on morphology and the presence of immunophenotypic features of histiocytic lineage. More than 57 cases, including 16 cases involving the gastrointestinal (GI) tract, have been described since the World Health Organization issued its classification syst...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12032
更新日期:2013-02-01 00:00:00
abstract::A very rare case of a double cancer consisting of adenosquamous and hepatocellular carcinomas of the liver in a 65-year-old-man is discussed. The patient was hospitalized with epigastralgia in May 1997. Abdominal computed axial tomography revealed a tumor located in the left lobe of the liver and a left hepatic lobect...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2001.01302.x
更新日期:2001-12-01 00:00:00
abstract::Of the idiopathic interstitial pneumonias (IIPs), usual interstitial pneumonia (UIP) and diffuse alveolar damage (DAD) usually have poor prognoses. The prognoses of cryptogenic organizing pneumonia (COP) and nonspecific interstitial pneumonia (NSIP) are usually more favorable. Although several reports have described n...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12058
更新日期:2013-05-01 00:00:00
abstract::A case of a 9-year-old boy with fibrocartilaginous mesenchymoma located in the distal femur is presented. Fibrocartilaginous mesenchymoma is a rare tumor. There have been 17 cases reported since 1984. The presenting complaint was pain and local discomfort. Radiological examination showed lytic and sclerotic lesions lo...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2001.01247.x
更新日期:2001-08-01 00:00:00
abstract::The histology of basaloid squamous cell carcinoma (BSCC) can resemble that of adenoid cystic carcinoma (AdCC). Herein, we report two cases of BSCC with adenoid cystic-like features (BSCC-AdC). We collected cases of AdCC and BSCC of the head and neck region, extracted two cases with unusual histology, and reexamined th...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12986
更新日期:2020-10-01 00:00:00
abstract::MRL/MpTn-gld/gld (MRL/gld) mice, which are deficient in a functional Fas ligand (FasL), spontaneously develop autoimmune diseases involving both lethal glomerulonephritis and systemic arteritis, while MRL/Mp-+/+ (MRL/+) and C3H/HeJ-gld/gld (C3H/gld) do not. To determine the cells responsible for the development of glo...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2003.01516.x
更新日期:2003-08-01 00:00:00
abstract::Matrix metalloproteinases (MMP) play a role in a wide range of tumorigenesis, including early carcinogenesis events, tumor growth and tumor invasion and metastasis. Given that the ability of tumor cells to infiltrate and disseminate widely is what makes the tumors malignant, a role of MMP in cell migration during this...
journal_title:Pathology international
pub_type: 杂志文章,评审
doi:10.1046/j.1440-1827.2002.01343.x
更新日期:2002-04-01 00:00:00
abstract::We present a case of uterine intravenous leiomyomatosis associated with multiple pulmonary metastases with bullae-like cystic change. A 53-year-old woman who had undergone hysterectomy 5 years previously underwent an operation for multiple pulmonary nodules with bullae formation. After resection of several large bulla...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2001.01205.x
更新日期:2001-05-01 00:00:00
abstract::The role of chemokines, especially CXCL10/interferon-gamma-inducible protein 10 kDa (IP-10), a chemokine to attract CXCR3(+) T-helper 1-type CD4(+) T cells, is largely unknown in the pathophysiology of inflammatory bowel disease; ulcerative colitis and Crohn's disease. The authors have earlier shown that IP-10 neutral...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2007.02117.x
更新日期:2007-07-01 00:00:00
abstract::The RET finger protein (RFP) is a transcription factor belonging to the TRIM (tripartite motif) superfamily of proteins. RFP is expressed in a variety of human and rodent tumor cell lines and in several kinds of human cancer. Expression of RFP is associated with prognosis of colon and endometrial cancers. In the prese...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2012.02797.x
更新日期:2012-05-01 00:00:00
abstract::This report presents a case of neural fibrolipoma arising from the superficial peroneal nerve in the ankle. A 28-year-old woman was referred with a soft tissue mass in the anterior aspect of the right ankle, which had been gradually enlarging for the past 10 years. Magnetic resonance imaging showed a mass lesion, meas...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2002.01412.x
更新日期:2002-11-01 00:00:00
abstract::We previously reported that detection of desmoplastic reaction (DR) in pretreatment biopsy specimens was useful for predicting the depth of submucosal invasion (SM depth) in nonpedunculated early colorectal cancers (ECRCs) in a retrospective study. Here, we performed a prospective multicenter study for verification of...
journal_title:Pathology international
pub_type: 杂志文章,多中心研究
doi:10.1111/j.1440-1827.2012.02840.x
更新日期:2012-08-01 00:00:00
abstract::Angioleiomyoma is a solitary subcutaneous tumor characterized by pain in about half of patients with this tumor, and the pathogenesis of this pain has been a cause of much debate. To clarify the mechanism of pain and cytoskeletal property of tumor cells, 50 angioleiomyomas were studied clinicopathologically and immuno...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.1994.tb02587.x
更新日期:1994-01-01 00:00:00
abstract::Rheumatoid nodule is a frequent and characteristic extra-articular manifestation of rheumatoid arthritis (RA). Its involvement of central nervous system is a rare occurrence with only a few reported cases. A 78-year-old man with severe arthritis showing the formation of rheumatoid nodule-like granulomas in the dura an...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.1996.tb03649.x
更新日期:1996-07-01 00:00:00
abstract::Therapy related acute lymphoblastic leukemia (t-ALL) of B cell origin is rare and constitutes approximately 2% of all ALL. Previously compiled data on the complete cytogenetic analysis of 48 t-B-ALL cases suggested that MLL rearrangement at 11q23 gene locus is the most common abnormality. Philadelphia chromosome (Ph) ...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12337
更新日期:2015-10-01 00:00:00
abstract::BRCA1-associated protein 1 (BAP1) or methylthioadenosine phosphorylase (MTAP) immunohistochemistry (IHC) or 9p21 fluorescence in situ hybridization (FISH) are useful for the diagnosis of malignant pleural mesothelioma (MPM). However, the effect of these assays on the diagnostic yield of effusion cytology in MPM cases ...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/pin.12973
更新日期:2020-09-01 00:00:00
abstract::Bronchiolitis obliterans (BO) is generally believed to be a marker of pulmonary manifestation of graft-versus-host disease (GVHD) in patients who have undergone bone marrow transplantation for hematological malignancy. Pulmonary manifestations reported as GVHD (other than BO) include lymphocytic bronchiolitis with cel...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2009.02492.x
更新日期:2010-02-01 00:00:00
abstract::Changes in cerebrospinal fluid (CSF) composition have been shown to accurately reflect pathological processes in the CNS, and are potential indicators of abnormal CNS states, such as tumor growth. To detect biomarkers in high-grade astrocytomas, the differential expression of proteins in the cerebrospinal fluid was an...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2009.02447.x
更新日期:2009-11-01 00:00:00
abstract::Many human colorectal adenocarcinoma cell lines have been developed. However, differentiated type colorectal cancer cell lines, particularly, the goblet-cell differentiated type, are scarce. In the present study a novel colorectal adenocarcinoma cell line (designated as COLM-6) with predominant goblet-cell differentia...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1111/j.1440-1827.2005.01868.x
更新日期:2005-09-01 00:00:00
abstract::Telomerase activity is thought to contribute to the immortality of cancers. Recently, some investigators described a correlation between the activity of telomerase and the proliferative activity of cancer cells. The aim of this study was to evaluate the correlation between the expression of telomerase-associated prote...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2003.01551.x
更新日期:2003-11-01 00:00:00
abstract::Giant cell tumor (GCT) of bone is a primary osteolytic tumor that is characterized by the formation of osteoclast-like giant cells. In addition to GCT of bone, extraskeletal GCT are known to be formed in several soft tissues. Giant cells in GCT of bone were suggested to be identical to osteoclasts, but the characteriz...
journal_title:Pathology international
pub_type: 杂志文章
doi:10.1046/j.1440-1827.2003.01503.x
更新日期:2003-07-01 00:00:00